Materiały źródłowe

• #1 Gaucher disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/gauchers-disease/symptoms-causes/syc-20355546

  There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common. […] Most people who have Gaucher disease have varying degrees of the following problems: […] Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended. […] Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die. […] Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds. […] More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.

• #2 Gaucher Disease: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/16234-gaucher-disease

  Gaucher disease is an inherited genetic disorder. It causes bone pain, anemia, enlarged organs, a swollen, painful belly, and bruising and bleeding problems. Some types of Gaucher disease can lead to severe brain damage and death. But Gaucher disease type 1 (the most common in the U.S.) is treatable. […] Symptoms can appear at any age, from early childhood to late adulthood. […] Symptoms range from mild to severe and include: Anemia: As lipids build up in bone marrow, they destroy red blood cells. […] Enlarged organs: Your spleen and liver get bigger as fatty chemicals build up, which causes your belly to become enlarged and tender. […] Bruising, bleeding and clotting issues: A low platelet count causes people with Gaucher disease to bruise easily. […] Fatigue: As a result of anemia, people with Gaucher disease often experience fatigue (feeling tired all the time).

• #3 Gaucher Disease Life Expectancy & Prognosis | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/life-expectancy/

  Gaucher disease has a wide variety of symptoms. You may be relatively symptom-free, or you may experience more severe symptoms. […] Symptoms may not appear until adulthood or at all. […] Gaucher disease type 1 causes symptoms and complications such as swollen belly due to enlarged spleen and/or liver, bone problems such as easily fractured bones, early onset osteoporosis and severe arthritis, easy bruising and fatigue due to anemia (low platelet and low red blood cell counts). […] Gaucher disease type 2 involves severe neurological problems and also affects the organs that are involved in type 1. Because of the devastating brain damage, Gaucher disease type 2 is typically fatal within the first 2 years of life. […] Symptoms resemble those of Gaucher disease type 1, with the addition of slowly progressing neurological problems.

• #4 Progression and Symptoms | Cerezyme® (imiglucerase)

  https://www.cerezyme.com/about-gaucher/symptoms

  Recognize symptoms of Gaucher disease type 1 and understand the consequences of delayed diagnosis. […] Gaucher disease type 1 is a lifelong condition with diverse symptoms. The age of onset and disease severity of this progressive disease are unpredictable. […] Symptoms are diverse, unpredictable, and variable. Onset may occur at any age. […] Some patients may be asymptomatic, while others may experience one or more symptoms. Some symptoms may fluctuate as the disease progresses. […] The nature and severity of some symptoms may fluctuate as the disease progresses. […] Early diagnosis and timely management remain important, as damage caused by Gaucher disease type 1 may be irreversible. […] Symptoms can mimic other diseases, and many people are misdiagnosed. […] Even if you are asymptomatic or have very mild symptoms, it is important to manage your disease, as Gaucher disease type 1 can progress without noticeable signs.

• #5 What Is Gaucher Type 1?

  https://www.cerdelga.com/symptoms-testing

  Gaucher disease type 1 symptoms can appear similar to those of other diseases and can begin at any age. Some people have been told they have the wrong diagnosis or think they were already tested for Gaucher disease. […] Onset of GD1 can occur at any age. GD1 advances differently for everyone and can be unpredictable. For some it may be very slow, with long periods of time when little or no symptoms are present. Others may experience sudden or worsening symptoms with no warning. Gaucher disease is a lifelong condition no matter how you experience your symptoms. […] Early diagnosis and timely treatment remain important, as damage caused by Gaucher disease type 1 may be irreversible.

• #6 Symptoms of Gaucher Disease | Cerezyme® (imiglucerase)

  https://www.cerezyme.com/hcp/treating-gaucher-disease/symptoms

  The signs and symptoms of Gaucher disease type 1 may not be obvious. The early signs and symptoms of Gaucher disease type 1 tend to reflect the hematologic aspects of the disease, but skeletal manifestations are often present. Splenomegaly and/or thrombocytopenia are 2 of the most prominent and frequent symptoms. Symptoms can begin at any age, and the clinical progression ranges from asymptomatic to life-threatening. […] A delayed diagnosis can lead to further disease progression and multisystemic complications. When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years. Gaucher disease type 1 is progressive and over time may lead to bleeding due to thrombocytopenia/ coagulopathy, anemia, progressive visceral enlargement, bone pain, osteonecrosis and fractures, growth failure in children, cytokine storm, markedly reduced quality of life, shortened life and increased cancer risk. Early diagnosis and proper management remain important, as damage caused by Gaucher disease type 1 may be irreversible.

• #7 Symptoms of Gaucher Disease | Cerezyme® (imiglucerase)

  https://www.cerezyme.com/hcp/treating-gaucher-disease/symptoms

  The signs and symptoms of Gaucher disease type 1 may not be obvious. The early signs and symptoms of Gaucher disease type 1 tend to reflect the hematologic aspects of the disease, but skeletal manifestations are often present. Splenomegaly and/or thrombocytopenia are 2 of the most prominent and frequent symptoms. Symptoms can begin at any age, and the clinical progression ranges from asymptomatic to life-threatening. […] A delayed diagnosis can lead to further disease progression and multisystemic complications. When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years. Gaucher disease type 1 is progressive and over time may lead to bleeding due to thrombocytopenia/ coagulopathy, anemia, progressive visceral enlargement, bone pain, osteonecrosis and fractures, growth failure in children, cytokine storm, markedly reduced quality of life, shortened life and increased cancer risk. Early diagnosis and proper management remain important, as damage caused by Gaucher disease type 1 may be irreversible.

• #8 A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

  https://www.mdpi.com/1422-0067/18/2/441

  Type-1 GD (GD1), usually distinguished by the absence of neurological impairment, is the most common form of the disease (prevalence: 90%–95% in Europe and North America). Its clinical presentation is variable, ranging from asymptomatic throughout life to early-onset forms presenting in childhood. […] Fatigue is common (50% of patients) and often has an impact on school life or socio-professional activities. In children, growth retardation and delayed puberty are common (growth <5th percentile in 34% of children). [...] Splenomegaly is observed in more than 90% of patients and is sometimes massive, with a spleen weighing up to several kilograms and causing abdominal pain or distension. [...] Hepatomegaly is noted in 60%–80% of patients. [...] Bone involvement causes acute pain manifested as very painful bone crises, predominantly in the pelvis and lower limbs (more rarely in the upper limbs), and/or chronic pain that should be assessed using a visual analog scale or digital scale.

• #9 Gaucher Disease – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1269/

  Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. […] Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. […] Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. […] Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. […] The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis.

• #10 Gaucher Disease Symptoms | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/symptoms/

  The symptoms of Gaucher disease (pronounced go-SHAY) often vary from person to person. While you may experience severe Gaucher disease symptoms, it is also possible to have no symptoms or signs at all. Treatment can reduce symptoms and prevent irreversible damage to your body. […] The most common symptoms of Gaucher Disease include: Swollen belly (enlarged spleen and liver), Easy bruising (low platelet count), Bleeding that is difficult to stop, Anemia (low red blood counts), Fatigue (excessive tiredness), Bone pain/easily fractured bones, In some cases, respiratory problems. […] Gaucher disease symptoms involving the blood and organs include: Enlarged spleen and liver: When Gaucher cells build up in the spleen and/or liver, these organs become enlarged and can cause your belly to become swollen and painful. Low platelet count: A normally functioning spleen disposes of old blood cells. A spleen enlarged by Gaucher disease destroys blood cells too rapidly, including platelets that are responsible for clotting even after minor injuries. Bleeding and clotting problems: With fewer platelets, patients with Gaucher disease can have bleeding issues. Low platelet counts can cause problems like frequent nosebleeds, gum bleeding and easy bruising. Low platelets can also result in more serious bleeding problems, particularly after dental work, surgery, trauma and delivering a baby. Anemia: Gaucher cells in bone marrow reduce the production of blood cells, and the spleen quickly destroys blood cells the body does make. These processes can cause anemia, or low levels of red blood cells that carry energy-producing oxygen to all parts of the body. Patients can also become anemic for other reasons such as iron deficiency or vitamin B12 deficiency. A Gaucher specialist can help you understand and address anemia problems. Fatigue: Anemia causes fatigue, and its common for patients with Gaucher disease to experience excessive tiredness. However, not all fatigue in Gaucher disease is due to anemia. Lungs: In some cases, glucocerebroside may accumulate in the lungs, causing respiratory problems.

• #11 Gaucher Disease > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/gaucher-disease

  Symptoms include a swollen belly, bone pain, anemia, and bruising […] Symptoms of Gaucher disease type 1 can differ vastly and can range from severe to none at all. Some signs include: […] Swollen belly (from spleen and liver enlargement) […] Bone pain and easily fractured bones […] Anemia (low red blood cell counts) and fatigue […] Bleeding (frequent nosebleeds, gum bleeding) and bruising problems (caused by decrease in blood platelets) […] The organs enlarge sometimes as much as 50 times its normal size for the spleen and bones are affected, which increases the risk of fracture and severe bone pain (called a bone crisis) that requires joint replacement.

• #12 Gaucher Disease: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/16234-gaucher-disease

  Gaucher disease is an inherited genetic disorder. It causes bone pain, anemia, enlarged organs, a swollen, painful belly, and bruising and bleeding problems. Some types of Gaucher disease can lead to severe brain damage and death. But Gaucher disease type 1 (the most common in the U.S.) is treatable. […] Symptoms can appear at any age, from early childhood to late adulthood. […] Symptoms range from mild to severe and include: Anemia: As lipids build up in bone marrow, they destroy red blood cells. […] Enlarged organs: Your spleen and liver get bigger as fatty chemicals build up, which causes your belly to become enlarged and tender. […] Bruising, bleeding and clotting issues: A low platelet count causes people with Gaucher disease to bruise easily. […] Fatigue: As a result of anemia, people with Gaucher disease often experience fatigue (feeling tired all the time).

• #13 Gaucher Disease Symptoms | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/symptoms/

  The symptoms of Gaucher disease (pronounced go-SHAY) often vary from person to person. While you may experience severe Gaucher disease symptoms, it is also possible to have no symptoms or signs at all. Treatment can reduce symptoms and prevent irreversible damage to your body. […] The most common symptoms of Gaucher Disease include: Swollen belly (enlarged spleen and liver), Easy bruising (low platelet count), Bleeding that is difficult to stop, Anemia (low red blood counts), Fatigue (excessive tiredness), Bone pain/easily fractured bones, In some cases, respiratory problems. […] Gaucher disease symptoms involving the blood and organs include: Enlarged spleen and liver: When Gaucher cells build up in the spleen and/or liver, these organs become enlarged and can cause your belly to become swollen and painful. Low platelet count: A normally functioning spleen disposes of old blood cells. A spleen enlarged by Gaucher disease destroys blood cells too rapidly, including platelets that are responsible for clotting even after minor injuries. Bleeding and clotting problems: With fewer platelets, patients with Gaucher disease can have bleeding issues. Low platelet counts can cause problems like frequent nosebleeds, gum bleeding and easy bruising. Low platelets can also result in more serious bleeding problems, particularly after dental work, surgery, trauma and delivering a baby. Anemia: Gaucher cells in bone marrow reduce the production of blood cells, and the spleen quickly destroys blood cells the body does make. These processes can cause anemia, or low levels of red blood cells that carry energy-producing oxygen to all parts of the body. Patients can also become anemic for other reasons such as iron deficiency or vitamin B12 deficiency. A Gaucher specialist can help you understand and address anemia problems. Fatigue: Anemia causes fatigue, and its common for patients with Gaucher disease to experience excessive tiredness. However, not all fatigue in Gaucher disease is due to anemia. Lungs: In some cases, glucocerebroside may accumulate in the lungs, causing respiratory problems.

• #14 Gaucher disease Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/gaucher-disease

  Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). […] Bleeding because of low platelet count is the most common symptom seen in Gaucher disease. Other symptoms may include: Bone pain and fractures, Cognitive impairment (decreased thinking ability), Easy bruising, Enlarged spleen, Enlarged liver, Fatigue, Heart valve problems, Lung disease (rare), Seizures, Severe swelling at birth, Skin changes. […] How well a person does depends on their subtype of the disease. The infantile form of Gaucher disease (Type 2) may lead to early death. Most affected children die before age 5. Adults with the type 1 form of Gaucher disease can expect a normal life expectancy with enzyme replacement therapy.

• #15 Gaucher Disease – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1269/

  The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. […] Bone disease ranges from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis. […] Acute bone pain manifests as „bone crises” or episodes of deep bone pain that are usually confined to one extremity or joint and are often accompanied by fever, leukocytosis, and sterile blood culture. […] Bone disease in GD may not correlate with the severity of hematologic or visceral problems. […] Cytopenias are almost universal in untreated individuals with GD. Anemia, thrombocytopenia, and leukopenia may be present simultaneously or independently. […] Thrombocytopenia may result from hypersplenism, splenic pooling of platelets, or marrow infiltration or infarction.

• #16 Monitoring | Know Gaucher Disease

  https://www.knowgaucherdisease.com/hcp/monitoring/

  The age of onset and the severity of symptoms of type 1 Gaucher disease (GD1) can vary considerably. The main clinical manifestations include: Splenomegaly occurs in 95% of patients with GD1. It may be one of the first and most physically prominent presentations of GD1 in patients. Splenomegaly results in abdominal distension and early satiety. Many patients complain of acute abdominal pain, which can be worsened by splenic infarction. […] Enlargement of the liver occurs in 80% of patients with GD1, also contributing to abdominal pain and early satiety. Hepatomegaly may progress to liver disease and cirrhosis. […] Bruising, bleeding, and nosebleeds occur due to thrombocytopenia. Fatigue is common, occurring in 50% of patients with GD1. […] Skeletal involvement occurs in 70-100% of patients with GD1 and includes abnormal bone shaping, bone pain, bone infections, and fractures. Osteonecrosis of the femoral head may lead to joint collapse and osteoarthritis. Skeletal manifestations are associated with considerable pain, limitations in mobility, and a significantly reduced quality of life. In severe cases, they can lead to potentially irreversible complications or long-term disability.

• #17 Gaucher’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Gaucher%27s_disease

  Painless hepatomegaly and splenomegaly: the size of the spleen can be 1,5003,000 g (3.36.6 lb), as opposed to the normal size of 50200 g (0.110.44 lb). Splenomegaly may decrease the affected individual’s capacity for eating by exerting pressure on the stomach. While painless, enlargement of the spleen increases the risk of splenic rupture. […] Hypersplenism and pancytopenia, the rapid and premature destruction of blood cells, leads to anemia, neutropenia, leukopenia, and thrombocytopenia (with an increased risk of infection and bleeding). […] Severe pain associated with joints and bones occurs, frequently presenting in hips and knees. […] Neurological symptoms occur only in some types of Gaucher’s (see below): Type I: impaired olfaction and cognition; Type II: serious convulsions, hypertonia, intellectual disability, and apnea; Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia. […] Osteoporosis: 75% of patients develop visible bony abnormalities due to the accumulated glucosylceramide. A deformity of the distal femur in the shape of an Erlenmeyer flask is commonly described. […] Yellowish-brown skin pigmentation.

• #18 Monitoring | Know Gaucher Disease

  https://www.knowgaucherdisease.com/hcp/monitoring/

  The age of onset and the severity of symptoms of type 1 Gaucher disease (GD1) can vary considerably. The main clinical manifestations include: Splenomegaly occurs in 95% of patients with GD1. It may be one of the first and most physically prominent presentations of GD1 in patients. Splenomegaly results in abdominal distension and early satiety. Many patients complain of acute abdominal pain, which can be worsened by splenic infarction. […] Enlargement of the liver occurs in 80% of patients with GD1, also contributing to abdominal pain and early satiety. Hepatomegaly may progress to liver disease and cirrhosis. […] Bruising, bleeding, and nosebleeds occur due to thrombocytopenia. Fatigue is common, occurring in 50% of patients with GD1. […] Skeletal involvement occurs in 70-100% of patients with GD1 and includes abnormal bone shaping, bone pain, bone infections, and fractures. Osteonecrosis of the femoral head may lead to joint collapse and osteoarthritis. Skeletal manifestations are associated with considerable pain, limitations in mobility, and a significantly reduced quality of life. In severe cases, they can lead to potentially irreversible complications or long-term disability.

• #19 Signs and Symptoms | Know Gaucher Disease

  https://www.knowgaucherdisease.com/hcp/signs-and-symptoms/

  The main clinical manifestations include splenomegaly, which occurs in 95% of patients with GD1, and hepatomegaly, which occurs in 80% of patients with GD1. […] Skeletal involvement occurs in 70-100% of patients with GD1 and includes abnormal bone shaping, bone pain, bone infections, and fractures. […] The age of onset and the severity of symptoms of type 1 Gaucher disease (GD1) can vary considerably.

• #20

  https://www.womenshealthmag.com/health/a62488745/gaucher-disease-symptoms/

  My digestion was off, tooI could barely eat anything without feeling bloated, let alone dining hall food, eating out at restaurants, and late-night pizza on campus. […] My stomach was rock hard, bloated, and swollen, and I had tons of burping, gas, and irritation after eating. […] My case of Gaucher disease was different from anything the specialist had ever seen. It turned out my enlarged organs were squeezing my whole digestive tract, which was causing all of the painful GI symptoms. […] Typically, if the condition is in your body long enough, it can spread to your bones, which often causes bone pain or bone fractures. […] I started waking up feeling more energized, refreshed, and without brain fog, gas, and a bloated gut. […] Today, I still receive regular infusion treatments to keep Gaucher symptoms at bay, and I will need this medication for the rest of my life.

• #21 Monitoring | Know Gaucher Disease

  https://www.knowgaucherdisease.com/hcp/monitoring/

  The age of onset and the severity of symptoms of type 1 Gaucher disease (GD1) can vary considerably. The main clinical manifestations include: Splenomegaly occurs in 95% of patients with GD1. It may be one of the first and most physically prominent presentations of GD1 in patients. Splenomegaly results in abdominal distension and early satiety. Many patients complain of acute abdominal pain, which can be worsened by splenic infarction. […] Enlargement of the liver occurs in 80% of patients with GD1, also contributing to abdominal pain and early satiety. Hepatomegaly may progress to liver disease and cirrhosis. […] Bruising, bleeding, and nosebleeds occur due to thrombocytopenia. Fatigue is common, occurring in 50% of patients with GD1. […] Skeletal involvement occurs in 70-100% of patients with GD1 and includes abnormal bone shaping, bone pain, bone infections, and fractures. Osteonecrosis of the femoral head may lead to joint collapse and osteoarthritis. Skeletal manifestations are associated with considerable pain, limitations in mobility, and a significantly reduced quality of life. In severe cases, they can lead to potentially irreversible complications or long-term disability.

• #22 Signs and Symptoms | Know Gaucher Disease

  https://www.knowgaucherdisease.com/hcp/signs-and-symptoms/

  The main clinical manifestations include splenomegaly, which occurs in 95% of patients with GD1, and hepatomegaly, which occurs in 80% of patients with GD1. […] Skeletal involvement occurs in 70-100% of patients with GD1 and includes abnormal bone shaping, bone pain, bone infections, and fractures. […] The age of onset and the severity of symptoms of type 1 Gaucher disease (GD1) can vary considerably.

• #23 Clinical Roundtable Monograph: Disease State Awareness in Gaucher Disease: A Q&A Expert Roundtable Discussion – Hematology & Oncology

  https://www.hematologyandoncology.net/supplements/clinical-roundtable-monograph-disease-state-awareness-in-gaucher-disease-a-qa-expert-roundtable-discussion/

  Type 2 Gaucher disease, the acute neuronopathic variant, is the most severe form of the disease and causes death at an early age. In some cases, type 2 Gaucher disease can result in nonviable infants. In other cases, the disease progresses rapidly during the first 1–2 years of life, with infants showing neurologic manifestations such as bulbar involvement, stridor, dysphagia, head retroflection, opisthotonos, spasticity, and cognitive impairment. The condition invariably causes death, typically before the age of 3 years, even with attentive supportive care. […] Type 3 Gaucher disease, the subacute or chronic neuronopathic variant, is more clinically heterogeneous. Some individuals with type 3 Gaucher disease are fully functional and able to work, while others may have significant impairments. Mild manifestations include oculomotor apraxia, while more severe forms of type 3 Gaucher disease are characterized by extrapyramidal manifestations such as myoclonic or generalized seizures, cerebellar ataxia, and intellectual regression.

• #24 Gaucher disease symptoms and early signs | Gaucher Disease News

  https://gaucherdiseasenews.com/symptoms/

  Neurological symptoms, such as seizures, abnormal eye movements, and cognitive difficulties, are not observed in people with type 1 Gaucher disease, so they aren’t usually considered common symptoms. However, they are present in all patients with types 2 and 3, making them a hallmark of these forms of the disease. […] Without treatment, low levels of red blood cells and/or platelets are present in virtually all patients, and can give rise to Gaucher disease signs and symptoms such as: fatigue or persistent tiredness and low energy even when well-rested; frequent or easy bruising; unusual bleeding, including prolonged bleeding when injured, nosebleeds, bleeding from the gums, and heavy menstrual periods. […] Bone abnormalities, which are observed in about 75%-100% of people with Gaucher type 1, may manifest with signs and symptoms such as: bone pain, including severe episodes called “bone crises” that mainly affect the pelvis and lower limbs, due to reduced blood flow to the bones; decreased bone density, which may be moderate (osteopenia) or more severe (osteoporosis), due to loss of calcium and other minerals; increased risk of bone fractures, which can occur even without trauma, due to weakened bones; skeletal abnormalities such as Erlenmeyer flask deformities, where bones become abnormally widened, due to the infiltration of Gaucher cells into the bone marrow; joint problems and arthritis; osteonecrosis (also called avascular necrosis or bone infarction) where bone tissue deteriorates and dies, causing significant bone deformities, due to reduced oxygen supply.

• #25 Gaucher Disease Symptoms | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/symptoms/

  Bone problems are common in people with Gaucher disease. With early treatment, you can minimize any permanent harm to your bones and joints. […] Gaucher disease symptoms affecting the bones include: Bone pain and bone crisis: Patients often experience bone pain, including severe episodes called bone crisis resulting from reduced blood flow to the bones. Bone infarction or avascular necrosis (AVN): This condition occurs when parts of the bone dont get enough oxygen, causing bone tissue to deteriorate and die. Bone infarction often leads to hip or shoulder problems, severe arthritis and increased fracture risk. Osteopenia and osteoporosis: Gaucher disease causes loss of calcium and mineral content in the bones (osteopenia and osteoporosis) in male and female patients of all ages. Smoking, excessive alcohol use, lack of physical activity and certain medications can add to the risk of osteoporosis in patients with Gaucher disease. Spontaneous fractures: Osteopenia (bone loss) and osteoporosis weaken the bones, making them more likely to break. Bone fractures in patients with Gaucher disease can occur even without trauma. Joint pain, arthritis and joint damage: It is common for patients with Gaucher disease to experience joint pain. Gaucher disease can cause severe arthritis and joint damage, which can be permanent if the disease is untreated. […] Neurological (brain stem) symptoms and signs of Gaucher disease are present only in patients with type 2 or type 3 Gaucher disease. These Gaucher disease signs and symptoms can be severe and may cause early death.

• #26 A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

  https://www.mdpi.com/1422-0067/18/2/441

  Acute painful bone crises are more common in children (30% of children with GD1). […] Bone infarcts with clinical consequences, AVN and pathological fractures are considered as severe bone complications of GD and are defined as bone events. […] Moderate losses of bone mass (osteopenia) or more severe declines (osteoporosis) increase with age and menopause in normal subjects. Loss of bone mass occurs earlier and is more severe in patients with GD and may cause pathological fractures (of long bones, vertebrae, etc.). […] When magnetic resonance imaging (MRI) is not available, standard radiographs may be used to observe bone remodeling disorders with enlargement of the metaphyseal/diaphyseal region of the femur’s lower part, referred to as the Erlenmeyer flask bone deformity, appearing during childhood.

• #27 Gaucher Disease Symptoms | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/symptoms/

  Bone problems are common in people with Gaucher disease. With early treatment, you can minimize any permanent harm to your bones and joints. […] Gaucher disease symptoms affecting the bones include: Bone pain and bone crisis: Patients often experience bone pain, including severe episodes called bone crisis resulting from reduced blood flow to the bones. Bone infarction or avascular necrosis (AVN): This condition occurs when parts of the bone dont get enough oxygen, causing bone tissue to deteriorate and die. Bone infarction often leads to hip or shoulder problems, severe arthritis and increased fracture risk. Osteopenia and osteoporosis: Gaucher disease causes loss of calcium and mineral content in the bones (osteopenia and osteoporosis) in male and female patients of all ages. Smoking, excessive alcohol use, lack of physical activity and certain medications can add to the risk of osteoporosis in patients with Gaucher disease. Spontaneous fractures: Osteopenia (bone loss) and osteoporosis weaken the bones, making them more likely to break. Bone fractures in patients with Gaucher disease can occur even without trauma. Joint pain, arthritis and joint damage: It is common for patients with Gaucher disease to experience joint pain. Gaucher disease can cause severe arthritis and joint damage, which can be permanent if the disease is untreated. […] Neurological (brain stem) symptoms and signs of Gaucher disease are present only in patients with type 2 or type 3 Gaucher disease. These Gaucher disease signs and symptoms can be severe and may cause early death.

• #28 A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

  https://www.mdpi.com/1422-0067/18/2/441

  Acute painful bone crises are more common in children (30% of children with GD1). […] Bone infarcts with clinical consequences, AVN and pathological fractures are considered as severe bone complications of GD and are defined as bone events. […] Moderate losses of bone mass (osteopenia) or more severe declines (osteoporosis) increase with age and menopause in normal subjects. Loss of bone mass occurs earlier and is more severe in patients with GD and may cause pathological fractures (of long bones, vertebrae, etc.). […] When magnetic resonance imaging (MRI) is not available, standard radiographs may be used to observe bone remodeling disorders with enlargement of the metaphyseal/diaphyseal region of the femur’s lower part, referred to as the Erlenmeyer flask bone deformity, appearing during childhood.

• #29 Living With Gaucher Disease

  https://www.webmd.com/children/living-with-gauchers-disease

  Gaucher can cause your bones to hurt. The pain, called bone crises, can be intense enough to keep you up at night. People with Gaucher disease can have joint pain related to arthritis. Tell your doctor about how you feel so you can get relief. […] Another common complaint from Gaucher is fatigue. Anemia — a lack of enough red blood cells — can make you feel tired. To help manage this problem: […] If your pain and fatigue make it harder for you to walk or climb stairs, go to a physical therapist. They can teach you exercises that help you move around more easily. […] The ideal activity program for Gaucher combines strength training, balance exercises, and aerobics (movement that gets your heart pumping). […] If Gaucher gives you an enlarged spleen or liver, it can put pressure on your stomach. You might feel full after just a few bites of food. […] Gaucher disease can affect the way they look. They may be shorter than their friends, or their stomach may look round because of an enlarged liver or spleen.

• #30 A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

  https://www.mdpi.com/1422-0067/18/2/441

  Acute painful bone crises are more common in children (30% of children with GD1). […] Bone infarcts with clinical consequences, AVN and pathological fractures are considered as severe bone complications of GD and are defined as bone events. […] Moderate losses of bone mass (osteopenia) or more severe declines (osteoporosis) increase with age and menopause in normal subjects. Loss of bone mass occurs earlier and is more severe in patients with GD and may cause pathological fractures (of long bones, vertebrae, etc.). […] When magnetic resonance imaging (MRI) is not available, standard radiographs may be used to observe bone remodeling disorders with enlargement of the metaphyseal/diaphyseal region of the femur’s lower part, referred to as the Erlenmeyer flask bone deformity, appearing during childhood.

• #31 Living with Gaucher Disease

  https://www.gaucher.org.uk/just_diagnosed_living_with_gaucher_disease

  The pain associated with Gaucher disease can range from very mild to extremely severe. Coping with the pain if it does become severe can be a major challenge for people with Gaucher disease. At times painful episodes may occur involving enlarged organs or affected bones. These episodes usually resolve within a week or two, but they can last longer. Sometimes potent medication may be necessary to control the pain during these episodes. […] Some people with Gaucher disease go through periods of severe skeletal pain known as „bone crises.” Joints swell, become shiny, red and inflamed, and actually feel warm to the touch. Sometimes the slightest movement can elicit excruciating pain. if the pain becomes sufficiently severe, it may prevent people from moving about comfortably, or make it difficult to sleep.

• #32 A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

  https://www.mdpi.com/1422-0067/18/2/441

  Type-1 GD (GD1), usually distinguished by the absence of neurological impairment, is the most common form of the disease (prevalence: 90%–95% in Europe and North America). Its clinical presentation is variable, ranging from asymptomatic throughout life to early-onset forms presenting in childhood. […] Fatigue is common (50% of patients) and often has an impact on school life or socio-professional activities. In children, growth retardation and delayed puberty are common (growth <5th percentile in 34% of children). [...] Splenomegaly is observed in more than 90% of patients and is sometimes massive, with a spleen weighing up to several kilograms and causing abdominal pain or distension. [...] Hepatomegaly is noted in 60%–80% of patients. [...] Bone involvement causes acute pain manifested as very painful bone crises, predominantly in the pelvis and lower limbs (more rarely in the upper limbs), and/or chronic pain that should be assessed using a visual analog scale or digital scale.

• #33 Clinical Roundtable Monograph: Disease State Awareness in Gaucher Disease: A Q&A Expert Roundtable Discussion – Hematology & Oncology

  https://www.hematologyandoncology.net/supplements/clinical-roundtable-monograph-disease-state-awareness-in-gaucher-disease-a-qa-expert-roundtable-discussion/

  Fatigue is a common feature of Gaucher disease. Although fatigue can be due to anemia, fatigue is an independent feature of Gaucher disease that occurs regardless of the degree of anemia. […] Gaucher disease is quite variable in its clinical presentation and disease progression. In many cases, disease progression is sporadic and unpredictable. The disease may be relatively silent for long periods of time, with these quiescent periods punctuated by episodes of acute crises or evidence of disease advancement. […] Unfortunately, this delay in diagnosis can lead to severe and potentially life-threatening complications, including avascular necrosis, severe bleeding, chronic bone pain, sepsis, pathologic fractures, growth abnormalities, and liver disease. Delay in diagnosis also causes tremendous psychologic stress for patients, as they often move from one physician to another seeking an explanation for their symptoms.

• #34 Monitoring | Know Gaucher Disease

  https://www.knowgaucherdisease.com/hcp/monitoring/

  For younger patients with GD1, delayed growth and puberty can often arise as complications in the disease course. Around half of younger patients with GD exhibit delayed growth, with approximately 25% having a shorter stature than expected when compared with midparental height. Patients who exhibit significantly stunted growth during childhood are likely to have severe visceral involvement and can also experience delayed puberty. […] As a result of the variable clinical course seen in GD1 patients, life expectancy can be highly variable. GD1 patients can fall anywhere on a spectrum between a severe form of the disease with onset in early childhood to an indolent or even asymptomatic disorder presenting in elderly adults. The average life expectancy of GD1 patients has been reported to be approximately a decade shorter than that of the general population; however, it has been acknowledged that the positive effects of appropriate, modern management and treatment have not yet been taken into account.

• #35 Living with Gaucher Disease

  https://www.gaucher.org.uk/just_diagnosed_living_with_gaucher_disease

  Children with Gaucher disease may grow more slowly than other children. They may be smaller and shorter because more of their energy is used to cope with the disease, and less is available for the growth process. […] Teenagers with Gaucher disease frequently experience a delay in the onset of puberty. […] Depending on the severity of the disease, Gaucher children with reduced agility, with a tendency toward bleeding or bone fractures, or with enlarged spleens may be advised by their physicians to avoid contact sports. […] For individuals with Gaucher disease who first experience disabling symptoms in adulthood, the psychological impact can be great. Adults may feel that they used to have much more stamina to be able to enjoy the varied pleasures of life. They were busy with their families, careers, and social lives. They were independent and mobile. An abrupt onset of severe symptoms may suddenly interfere with career and life plans.

• #36 Gaucher Disease – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/gaucher-disease

  Gaucher disease occurs when the body lacks enzymes needed to break down glucocerebrosides. […] Symptoms vary by type but may include liver, spleen, and bone problems. […] Gaucher disease leads to an enlarged liver and spleen and a brownish pigmentation of the skin. Accumulations of glucocerebrosides in the eyes cause yellow spots called pingueculae to appear. Accumulations in the bone marrow can cause pain and destroy bone. […] Type 1 Gaucher disease may lead to severe liver disease, including increased risk of bleeding from the stomach and esophagus and liver cancer. […] Type 2 Gaucher disease is the rarest form. It occurs during infancy and usually causes death by age 2 years. Affected infants have an enlarged spleen and severe neurologic problems (such as seizures and rigid limbs).

• #37 Gaucher Disease Symptoms | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/symptoms/

  The symptoms of Gaucher disease (pronounced go-SHAY) often vary from person to person. While you may experience severe Gaucher disease symptoms, it is also possible to have no symptoms or signs at all. Treatment can reduce symptoms and prevent irreversible damage to your body. […] The most common symptoms of Gaucher Disease include: Swollen belly (enlarged spleen and liver), Easy bruising (low platelet count), Bleeding that is difficult to stop, Anemia (low red blood counts), Fatigue (excessive tiredness), Bone pain/easily fractured bones, In some cases, respiratory problems. […] Gaucher disease symptoms involving the blood and organs include: Enlarged spleen and liver: When Gaucher cells build up in the spleen and/or liver, these organs become enlarged and can cause your belly to become swollen and painful. Low platelet count: A normally functioning spleen disposes of old blood cells. A spleen enlarged by Gaucher disease destroys blood cells too rapidly, including platelets that are responsible for clotting even after minor injuries. Bleeding and clotting problems: With fewer platelets, patients with Gaucher disease can have bleeding issues. Low platelet counts can cause problems like frequent nosebleeds, gum bleeding and easy bruising. Low platelets can also result in more serious bleeding problems, particularly after dental work, surgery, trauma and delivering a baby. Anemia: Gaucher cells in bone marrow reduce the production of blood cells, and the spleen quickly destroys blood cells the body does make. These processes can cause anemia, or low levels of red blood cells that carry energy-producing oxygen to all parts of the body. Patients can also become anemic for other reasons such as iron deficiency or vitamin B12 deficiency. A Gaucher specialist can help you understand and address anemia problems. Fatigue: Anemia causes fatigue, and its common for patients with Gaucher disease to experience excessive tiredness. However, not all fatigue in Gaucher disease is due to anemia. Lungs: In some cases, glucocerebroside may accumulate in the lungs, causing respiratory problems.

• #38 Gaucher Disease – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1269/

  Anemia may result from hypersplenism, hemodilution (e.g., pregnancy), iron deficiency, vitamin B12 deficiency, and, in advanced disease, decreased erythropoiesis as a result of bone marrow failure from Gaucher cell infiltration or medullary infarction. […] Individuals with GD have an increased risk of multiple myeloma. […] The increased risk for multiple myeloma has been attributed to chronic immune dysregulation secondary to antigenic properties of the incompletely metabolized substrate. […] Individuals with type 1 GD report improved health-related quality of life after 24-48 months of ERT. […] ERT has been demonstrated to be safe and effective in reversing features resulting from hematologic and visceral (liver/spleen) involvement. […] ERT does not alter the ultimate prognosis of neurologic disease in GD, although treatment can lead to significant improvement in systemic manifestations and quality of life.

• #39 Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion | Egyptian Journal of Medical Human Genetics | Full Text

  https://jmhg.springeropen.com/articles/10.1186/s43042-024-00552-z

  The characteristics of patients with GD in the Egyptian population are described in Table 1. […] Neurologic manifestations are the hallmark of neuronopathic type 2 and 3 GD and can present at any time in the patients life. […] Type 3 GD is predominantly reported in East Asia, Egypt, and Northern Europe, and a particular geographic isolate is seen in the Norrbotten County of Sweden. […] The connecting link between the presence of GBA1 variants, mainly N370S and L444P, as well as other mutations, and an elevated risk of parkinsonism was noticed more than two decades ago in the GD clinics. […] The prevalence of type 3 GD is higher than that of type 1, whereas the prevalence of type 2 disease is rare, and the most common pathogenic variant detected is L444P in heterozygous or homozygous form (47.8% in the Egyptian population).

• #40 Gaucher Disease – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/gaucher-disease

  Gaucher disease is a sphingolipidosis, an inherited disorder of metabolism, resulting from glucocerebrosidase deficiency, causing deposition of glucocerebroside and related compounds. Symptoms and signs vary by type but are most commonly hepatosplenomegaly or central nervous system changes. […] Symptoms and signs of type I Gaucher disease include splenohepatomegaly, bone disease (eg, osteopenia, pain crises, osteolytic lesions with fractures), growth failure, delayed puberty, ecchymoses, and pingueculae. Epistaxis and ecchymoses resulting from thrombocytopenia are common. […] Symptoms and signs of type II Gaucher disease are progressive neurologic deterioration (eg, rigidity, seizures) and death by age 2 years. […] Clinical manifestations vary by subtype and include progressive dementia and ataxia (IIIa), bone and visceral involvement (IIIb), and supranuclear palsies with corneal opacities (IIIc). Patients who survive to adolescence may live for many years. […] Symptoms and signs vary by type but are most commonly hepatosplenomegaly or central nervous system changes.

• #41 Gaucher Disease – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1269/

  Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. […] Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. […] Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. […] Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. […] The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis.

• #42 Gaucher Disease: Causes, Symptoms, and Treatment

  https://www.webmd.com/children/gauchers-disease-symptoms-causes-treatments

  Gaucher disease is a rare condition that can cause a variety of symptoms, from weakening of your bones to easy bruising. […] Symptoms vary a lot from person to person and depend in part on what type of Gaucher disease you’ve got. […] Symptoms of type 1 can appear at any time in your life, but they usually show up by the teen years. Sometimes the disease is so mild you won’t notice any problems. […] Some symptoms you might have are: Easy bruising, caused by low levels of blood platelets, Nosebleeds, Tiredness, caused by anemia (low levels of red blood cells), Enlarged spleen or liver, which makes your belly look swollen, Bone problems like pain, breaks, or arthritis, Lung disease. […] This very serious type affects infants, usually when they’re 3 to 6 months old. Symptoms include: Slow back-and-forth eye movement, Not gaining weight or growing as expected, called „failure to thrive”, A high-pitched sound when breathing, Seizures, Brain damage, especially to the brain stem, Enlarged liver or spleen, Inability to swallow, Pneumonia, Throat muscle spasms, Collodion skin, which looks like a thin, shiny coating, Slow heart rate, Infections, Lung problems, Bluish skin.

• #43

  https://www.gaucher.org.uk/type_2

  Type 2 Gaucher disease is a very rare, rapidly progressive form of Gaucher disease which affects the brain (central nervous system) as well as the spleen, liver, lungs and bones. […] Babies usually appear normal at birth but develop symptoms by the age of 3 to 6 months. Type 2 is almost always apparent by 6 months of age. The vast majority of children die by the age of two years. However, a small number have survived a little longer. […] Signs and symptoms include failure to thrive, rigidity of the neck and limbs (hypertonia), head thrust back, lockjaw (trismus), squinting (strabismus) and difficulty in swallowing. Other difficulties include vocal cord (laryngeal) spasm, seizures and a failure to shake off chest infections. The spleen and liver often become very enlarged with accompanying low blood counts. The baby may eventually become increasingly unresponsive for a period before death.

• #44 Gaucher Disease

  https://www.lysosomalcenter.org/index.php/for-patients/disorders/gaucher-disease

  Gaucher disease is an inherited disorder that results from the deficiency of an enzyme responsible for breaking down a fatty substance within the organelles of cells, called lysosomes. Low levels of an enzyme (glucocerebrosidase) allow lipid-laden cells, called Gaucher cells, to build up in tissues like the spleen, liver, and bone marrow, resulting in inflammation, immune dysfunction, and progressive organ involvement. […] Symptoms include spleen and liver enlargement, bone problems, fatigue, swollen stomach, easy bruising, tiredness, bone pain, easily broken bones, and nosebleeds. […] Symptoms include poor growth and development, crossing of the eyes, seizures, spasticity, jerking movements, inability to suck and swallow, breath holding and cyanotic spells, and enlarged liver and spleen.

• #45

  https://www.gaucher.org.uk/type_2

  Type 2 Gaucher disease is a very rare, rapidly progressive form of Gaucher disease which affects the brain (central nervous system) as well as the spleen, liver, lungs and bones. […] Babies usually appear normal at birth but develop symptoms by the age of 3 to 6 months. Type 2 is almost always apparent by 6 months of age. The vast majority of children die by the age of two years. However, a small number have survived a little longer. […] Signs and symptoms include failure to thrive, rigidity of the neck and limbs (hypertonia), head thrust back, lockjaw (trismus), squinting (strabismus) and difficulty in swallowing. Other difficulties include vocal cord (laryngeal) spasm, seizures and a failure to shake off chest infections. The spleen and liver often become very enlarged with accompanying low blood counts. The baby may eventually become increasingly unresponsive for a period before death.

• #46 Gaucher disease symptoms and early signs | Gaucher Disease News

  https://gaucherdiseasenews.com/symptoms/

  Neurological symptoms are not usually seen in Gaucher disease type 1, but are a hallmark of types 2 and 3. […] Common neurological problems associated with these types of Gaucher disease include: abnormal eye movements, such as slowed movement or an inability to move the eyes horizontally; difficulty swallowing; seizures; balance issues and poor coordination; muscle weakness or stiffness; cognitive impairment. […] Gaucher disease type 2, also called acute neuronopathic Gaucher, is marked by severe neurological complications that manifest shortly after birth, usually between ages 3 and 6 months. […] As the disease progresses, most babies will develop an enlarged spleen with low platelet levels, and about one-third will experience treatment-resistant seizures as part of their Gaucher disease type 2 symptoms.

• #47

  https://www.gaucher.org.uk/type_2

  Difficulties in breathing may arise for two reasons: a) Aspiration as mentioned above. b) Narrowing of the glottis (this is the opening of the trachea through which air passes on its way to the lungs). This opening is controlled by the brainstem. So when the brainstem is affected, the opening may suddenly close from time to time. This results in less air going through the glottis (the area of the voice box); and produces a characteristic sound known as stridor. These attacks can be frightening especially as consciousness is not lost. They tend to get more frequent as the disease progresses, and also more prolonged. Eventually one of these may be so severe as to be fatal.

• #48 Gaucher Disease: Causes, Symptoms, and Treatment

  https://www.webmd.com/children/gauchers-disease-symptoms-causes-treatments

  Gaucher disease is a rare condition that can cause a variety of symptoms, from weakening of your bones to easy bruising. […] Symptoms vary a lot from person to person and depend in part on what type of Gaucher disease you’ve got. […] Symptoms of type 1 can appear at any time in your life, but they usually show up by the teen years. Sometimes the disease is so mild you won’t notice any problems. […] Some symptoms you might have are: Easy bruising, caused by low levels of blood platelets, Nosebleeds, Tiredness, caused by anemia (low levels of red blood cells), Enlarged spleen or liver, which makes your belly look swollen, Bone problems like pain, breaks, or arthritis, Lung disease. […] This very serious type affects infants, usually when they’re 3 to 6 months old. Symptoms include: Slow back-and-forth eye movement, Not gaining weight or growing as expected, called „failure to thrive”, A high-pitched sound when breathing, Seizures, Brain damage, especially to the brain stem, Enlarged liver or spleen, Inability to swallow, Pneumonia, Throat muscle spasms, Collodion skin, which looks like a thin, shiny coating, Slow heart rate, Infections, Lung problems, Bluish skin.

• #49 Gaucher Disease: Causes, Symptoms, and Treatment

  https://www.webmd.com/children/gauchers-disease-symptoms-causes-treatments

  Gaucher disease is a rare condition that can cause a variety of symptoms, from weakening of your bones to easy bruising. […] Symptoms vary a lot from person to person and depend in part on what type of Gaucher disease you’ve got. […] Symptoms of type 1 can appear at any time in your life, but they usually show up by the teen years. Sometimes the disease is so mild you won’t notice any problems. […] Some symptoms you might have are: Easy bruising, caused by low levels of blood platelets, Nosebleeds, Tiredness, caused by anemia (low levels of red blood cells), Enlarged spleen or liver, which makes your belly look swollen, Bone problems like pain, breaks, or arthritis, Lung disease. […] This very serious type affects infants, usually when they’re 3 to 6 months old. Symptoms include: Slow back-and-forth eye movement, Not gaining weight or growing as expected, called „failure to thrive”, A high-pitched sound when breathing, Seizures, Brain damage, especially to the brain stem, Enlarged liver or spleen, Inability to swallow, Pneumonia, Throat muscle spasms, Collodion skin, which looks like a thin, shiny coating, Slow heart rate, Infections, Lung problems, Bluish skin.

• #50

  https://www.gaucher.org.uk/type_2

  Type 2 Gaucher disease is a very rare, rapidly progressive form of Gaucher disease which affects the brain (central nervous system) as well as the spleen, liver, lungs and bones. […] Babies usually appear normal at birth but develop symptoms by the age of 3 to 6 months. Type 2 is almost always apparent by 6 months of age. The vast majority of children die by the age of two years. However, a small number have survived a little longer. […] Signs and symptoms include failure to thrive, rigidity of the neck and limbs (hypertonia), head thrust back, lockjaw (trismus), squinting (strabismus) and difficulty in swallowing. Other difficulties include vocal cord (laryngeal) spasm, seizures and a failure to shake off chest infections. The spleen and liver often become very enlarged with accompanying low blood counts. The baby may eventually become increasingly unresponsive for a period before death.

• #51 Gaucher Disease Life Expectancy & Prognosis | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/life-expectancy/

  Gaucher disease has a wide variety of symptoms. You may be relatively symptom-free, or you may experience more severe symptoms. […] Symptoms may not appear until adulthood or at all. […] Gaucher disease type 1 causes symptoms and complications such as swollen belly due to enlarged spleen and/or liver, bone problems such as easily fractured bones, early onset osteoporosis and severe arthritis, easy bruising and fatigue due to anemia (low platelet and low red blood cell counts). […] Gaucher disease type 2 involves severe neurological problems and also affects the organs that are involved in type 1. Because of the devastating brain damage, Gaucher disease type 2 is typically fatal within the first 2 years of life. […] Symptoms resemble those of Gaucher disease type 1, with the addition of slowly progressing neurological problems.

• #52 Gaucher Disease Life Expectancy & Prognosis | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/life-expectancy/

  Neurological symptoms may include abnormal eye muscle movements, trouble with coordination, mental deterioration, and seizures. […] Patients with Gaucher disease type 3 have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s. […] Left untreated, Gaucher disease can cause permanent damage to your body and even shorten your life.

• #53 Signs and Symptoms

  https://www.gauchercare.com/signs-and-symptoms

  Gaucher disease symptoms are diverse, unpredictable, and variable. […] GD is a lifelong condition no matter how you experience your symptoms. […] The symptoms and how Gaucher disease develops may not be the same for everyone, even for people in the same family. […] You may experience no symptoms (asymptomatic), a combination of symptoms, or all the symptoms. Even if you do not notice symptoms, you may still have effects of Gaucher disease type 1 (GD1). […] 94% of patients with type 1 have signs of bone disease. Your bones may be affected even if you are not feeling bone pain. […] Symptoms usually get worse (progress) over time, but the rate of progression and onset of additional symptoms may vary. […] All patients with GD3 have difficulty moving the eyes (gaze palsy), but because of disease variability, may not discover this symptom until later in life. […] Patients with GD2 have onset of central nervous system symptoms by 6 months of age and rapid nervous system decline in the first 2 years of life.

• #54 Gaucher Disease

  https://blog.eneuro.org/sitecore/content/Home/BrainFacts2/Diseases-and-Disorders/Neurological-Disorders-AZ/Diseases-A-to-Z-from-NINDS/Gaucher-Disease

  In the third category, called type 3 (or chronic neuropathic Gaucher disease), liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal irregularities, eye movement disorders, seizures, cognitive deficit, poor coordination, respiratory problems, and blood disorders.

• #55 What Is Gaucher Disease? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/gaucher-disease/guide/

  Gaucher disease type 2 (acute infantile neuropathic disease) typically involves symptoms that develop rapidly within the first three months of life. It leads to extensive and severe neurological complications that are nearly always deadly before age 3. Signs and symptoms may include: Enlarged spleen, and possibly enlarged liver, Low muscle tone, Loss of acquired motor skills, Muscle spasms, Seizures, Crossed eyes, Difficulty sucking or swallowing, Failure to gain weight or grow as expected, Difficulty breathing, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia). […] Gaucher disease type 3 (chronic neuropathic disease) typically involves symptoms that develop during the first 10 years of life, although adult onset has been reported. It generally has a later onset and slower progression than type 2. This form of the disease involves both neurological complications and problems with other areas, such as your blood and bones. Signs and symptoms may include: Muscle spasms, Difficulty with muscle coordination, Seizures, Cognitive decline, Eye movement problems, Breathing problems, Enlarged liver or spleen, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia).

• #56 What Is Gaucher Disease? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/gaucher-disease/guide/

  Gaucher disease type 2 (acute infantile neuropathic disease) typically involves symptoms that develop rapidly within the first three months of life. It leads to extensive and severe neurological complications that are nearly always deadly before age 3. Signs and symptoms may include: Enlarged spleen, and possibly enlarged liver, Low muscle tone, Loss of acquired motor skills, Muscle spasms, Seizures, Crossed eyes, Difficulty sucking or swallowing, Failure to gain weight or grow as expected, Difficulty breathing, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia). […] Gaucher disease type 3 (chronic neuropathic disease) typically involves symptoms that develop during the first 10 years of life, although adult onset has been reported. It generally has a later onset and slower progression than type 2. This form of the disease involves both neurological complications and problems with other areas, such as your blood and bones. Signs and symptoms may include: Muscle spasms, Difficulty with muscle coordination, Seizures, Cognitive decline, Eye movement problems, Breathing problems, Enlarged liver or spleen, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia).

• #57 What Is Gaucher Disease? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/gaucher-disease/guide/

  Gaucher disease type 2 (acute infantile neuropathic disease) typically involves symptoms that develop rapidly within the first three months of life. It leads to extensive and severe neurological complications that are nearly always deadly before age 3. Signs and symptoms may include: Enlarged spleen, and possibly enlarged liver, Low muscle tone, Loss of acquired motor skills, Muscle spasms, Seizures, Crossed eyes, Difficulty sucking or swallowing, Failure to gain weight or grow as expected, Difficulty breathing, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia). […] Gaucher disease type 3 (chronic neuropathic disease) typically involves symptoms that develop during the first 10 years of life, although adult onset has been reported. It generally has a later onset and slower progression than type 2. This form of the disease involves both neurological complications and problems with other areas, such as your blood and bones. Signs and symptoms may include: Muscle spasms, Difficulty with muscle coordination, Seizures, Cognitive decline, Eye movement problems, Breathing problems, Enlarged liver or spleen, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia).

• #58 What Is Gaucher Disease? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/gaucher-disease/guide/

  Gaucher disease type 2 (acute infantile neuropathic disease) typically involves symptoms that develop rapidly within the first three months of life. It leads to extensive and severe neurological complications that are nearly always deadly before age 3. Signs and symptoms may include: Enlarged spleen, and possibly enlarged liver, Low muscle tone, Loss of acquired motor skills, Muscle spasms, Seizures, Crossed eyes, Difficulty sucking or swallowing, Failure to gain weight or grow as expected, Difficulty breathing, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia). […] Gaucher disease type 3 (chronic neuropathic disease) typically involves symptoms that develop during the first 10 years of life, although adult onset has been reported. It generally has a later onset and slower progression than type 2. This form of the disease involves both neurological complications and problems with other areas, such as your blood and bones. Signs and symptoms may include: Muscle spasms, Difficulty with muscle coordination, Seizures, Cognitive decline, Eye movement problems, Breathing problems, Enlarged liver or spleen, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia).

• #59 What Is Gaucher Disease? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/gaucher-disease/guide/

  Gaucher disease type 2 (acute infantile neuropathic disease) typically involves symptoms that develop rapidly within the first three months of life. It leads to extensive and severe neurological complications that are nearly always deadly before age 3. Signs and symptoms may include: Enlarged spleen, and possibly enlarged liver, Low muscle tone, Loss of acquired motor skills, Muscle spasms, Seizures, Crossed eyes, Difficulty sucking or swallowing, Failure to gain weight or grow as expected, Difficulty breathing, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia). […] Gaucher disease type 3 (chronic neuropathic disease) typically involves symptoms that develop during the first 10 years of life, although adult onset has been reported. It generally has a later onset and slower progression than type 2. This form of the disease involves both neurological complications and problems with other areas, such as your blood and bones. Signs and symptoms may include: Muscle spasms, Difficulty with muscle coordination, Seizures, Cognitive decline, Eye movement problems, Breathing problems, Enlarged liver or spleen, Low blood platelet count (thrombocytopenia), Low red blood cell count (anemia).

• #60 Changing clinical manifestations of Gaucher disease in Taiwan | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02895-z

  The presentation of GD3 is subacute or chronic yet clinically heterogeneous; many patients with mild cognitive involvement and a well-controlled seizure disorder live full and productive lives, others suffer from developmental delay and seizure, and still others suffer from cognitive impairment and dementia. […] While the majority of symptoms are amenable to ERT, neurological presentations progress owing to the inability of ERT to cross the blood-brain barrier. […] Patients with GD3 exhibit neurological presentations in addition to visceral, hematological, and skeletal involvement.

• #61 Gaucher disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/gaucher-disease/

  The most severe type of Gaucher disease is a very rare form of type 2 called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. […] Another form of Gaucher disease is known as the cardiovascular type (or type 3c) because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

• #62 Gaucher disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/gaucher-disease/

  The most severe type of Gaucher disease is a very rare form of type 2 called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. […] Another form of Gaucher disease is known as the cardiovascular type (or type 3c) because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

• #63 Gaucher disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/gaucher-disease/

  The most severe type of Gaucher disease is a very rare form of type 2 called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. […] Another form of Gaucher disease is known as the cardiovascular type (or type 3c) because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

• #64 Gaucher disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/gaucher-disease/

  The most severe type of Gaucher disease is a very rare form of type 2 called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. […] Another form of Gaucher disease is known as the cardiovascular type (or type 3c) because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

• #65 Gaucher Disease: Causes, Symptoms, and Treatment

  https://www.webmd.com/children/gauchers-disease-symptoms-causes-treatments

  Like type 2, it starts in childhood, but usually at a later age. The timing varies, but it usually shows up by the teen years. […] Type 3 brings the same blood and bone problems that type 1 does and also causes symptoms like: Trouble moving eyes side to side or up and down, Lung disease that gets worse, A slow breakdown in mental ability, Problems controlling arms and legs, Muscle spasms or shocks. […] Your child may feel very ill and might need help to eat or get extra nutrition. As type 3 symptoms get worse, they may need help to dress, bathe, or get around the house. […] An infant with this form of type 2 usually lives only a few days. The symptoms include: Too much fluid in the baby’s body before or soon after they’re born, Dry, scaly skin (called ichthyosis) and other skin problems, Enlarged liver and spleen, Serious brain and spinal cord problems, Swollen stomach, Unusual facial features.

• #66 Gaucher Disease: Causes, Symptoms, and Treatment

  https://www.webmd.com/children/gauchers-disease-symptoms-causes-treatments

  Like type 2, it starts in childhood, but usually at a later age. The timing varies, but it usually shows up by the teen years. […] Type 3 brings the same blood and bone problems that type 1 does and also causes symptoms like: Trouble moving eyes side to side or up and down, Lung disease that gets worse, A slow breakdown in mental ability, Problems controlling arms and legs, Muscle spasms or shocks. […] Your child may feel very ill and might need help to eat or get extra nutrition. As type 3 symptoms get worse, they may need help to dress, bathe, or get around the house. […] An infant with this form of type 2 usually lives only a few days. The symptoms include: Too much fluid in the baby’s body before or soon after they’re born, Dry, scaly skin (called ichthyosis) and other skin problems, Enlarged liver and spleen, Serious brain and spinal cord problems, Swollen stomach, Unusual facial features.

• #67 Gaucher disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/gaucher-disease/

  The most severe type of Gaucher disease is a very rare form of type 2 called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. […] Another form of Gaucher disease is known as the cardiovascular type (or type 3c) because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

• #68 Gaucher Disease – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1269/

  The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. […] Bone disease ranges from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis. […] Acute bone pain manifests as „bone crises” or episodes of deep bone pain that are usually confined to one extremity or joint and are often accompanied by fever, leukocytosis, and sterile blood culture. […] Bone disease in GD may not correlate with the severity of hematologic or visceral problems. […] Cytopenias are almost universal in untreated individuals with GD. Anemia, thrombocytopenia, and leukopenia may be present simultaneously or independently. […] Thrombocytopenia may result from hypersplenism, splenic pooling of platelets, or marrow infiltration or infarction.

• #69 Gaucher Disease – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1269/

  The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. […] Bone disease ranges from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis. […] Acute bone pain manifests as „bone crises” or episodes of deep bone pain that are usually confined to one extremity or joint and are often accompanied by fever, leukocytosis, and sterile blood culture. […] Bone disease in GD may not correlate with the severity of hematologic or visceral problems. […] Cytopenias are almost universal in untreated individuals with GD. Anemia, thrombocytopenia, and leukopenia may be present simultaneously or independently. […] Thrombocytopenia may result from hypersplenism, splenic pooling of platelets, or marrow infiltration or infarction.

• #70 Gaucher Disease – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1269/

  The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. […] Bone disease ranges from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis. […] Acute bone pain manifests as „bone crises” or episodes of deep bone pain that are usually confined to one extremity or joint and are often accompanied by fever, leukocytosis, and sterile blood culture. […] Bone disease in GD may not correlate with the severity of hematologic or visceral problems. […] Cytopenias are almost universal in untreated individuals with GD. Anemia, thrombocytopenia, and leukopenia may be present simultaneously or independently. […] Thrombocytopenia may result from hypersplenism, splenic pooling of platelets, or marrow infiltration or infarction.

• #71 Gaucher Disease – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1269/

  The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. […] Bone disease ranges from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis. […] Acute bone pain manifests as „bone crises” or episodes of deep bone pain that are usually confined to one extremity or joint and are often accompanied by fever, leukocytosis, and sterile blood culture. […] Bone disease in GD may not correlate with the severity of hematologic or visceral problems. […] Cytopenias are almost universal in untreated individuals with GD. Anemia, thrombocytopenia, and leukopenia may be present simultaneously or independently. […] Thrombocytopenia may result from hypersplenism, splenic pooling of platelets, or marrow infiltration or infarction.

• #72 Gaucher Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448080/

  Metabolic disturbances, especially disorders of nutrition and glucose metabolism, are observed in pediatric and adult patients with Gaucher disease. […] The prognosis of Gaucher disease varies significantly depending on several factors, including the type of the disease, the age at which it is diagnosed, the promptness of treatment initiation, and the individual’s overall health. […] Individuals with Type 1 Gaucher disease can have a near-normal life expectancy with appropriate treatment. […] Type 2 Gaucher disease is a severe and rapidly progressing form, primarily affecting infants. […] Type 3 Gaucher disease is a milder form than Type 2, with a later onset of symptoms, typically in childhood or adolescence. […] Perinatal lethal Gaucher disease is the most severe and rarest form of Gaucher disease.

• #73 Gaucher Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448080/

  Metabolic disturbances, especially disorders of nutrition and glucose metabolism, are observed in pediatric and adult patients with Gaucher disease. […] The prognosis of Gaucher disease varies significantly depending on several factors, including the type of the disease, the age at which it is diagnosed, the promptness of treatment initiation, and the individual’s overall health. […] Individuals with Type 1 Gaucher disease can have a near-normal life expectancy with appropriate treatment. […] Type 2 Gaucher disease is a severe and rapidly progressing form, primarily affecting infants. […] Type 3 Gaucher disease is a milder form than Type 2, with a later onset of symptoms, typically in childhood or adolescence. […] Perinatal lethal Gaucher disease is the most severe and rarest form of Gaucher disease.

• #74 Gaucher Disease Life Expectancy & Prognosis | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/life-expectancy/

  Neurological symptoms may include abnormal eye muscle movements, trouble with coordination, mental deterioration, and seizures. […] Patients with Gaucher disease type 3 have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s. […] Left untreated, Gaucher disease can cause permanent damage to your body and even shorten your life.

• #75 Gaucher Disease | LSDSS India

  https://lsdssindia.org/about-lysosomal-storage-disorders/gaucher-disease/

  According to the International Collaborative Gaucher Group (ICGG) Gaucher Registry, the mean life expectancy at birth of patients with Type 1 Gaucher has been reported as 68.2 years (63.9 years for splenectomised patients and 72.0 years for non-splenectomised patients), compared with 77.1 years in a reference population. Type 2 Gaucher usually results in death within the first few years of life. Patients with Type 3 Gaucher have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s.

• #76 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Enzyme replacement therapy (ERT) for type 1 Gaucher disease includes imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). ERT is indicated for patients with type 1 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. Severity and rate of disease progression widely vary, especially in adults, which makes treatment decisions extremely difficult in some patients. […] ERT has a remarkable effect on hepatosplenomegaly, with an average overall decrease of 25% in liver and spleen volume after 6 months of therapy. In most patients with anemia, hemoglobin levels rise by 1.5 g/dL during the first 4-6 months of therapy. […] Skeletal disease is the slowest to respond, with symptomatic improvement described by some within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response. […] The symptoms of patients with Gaucher disease who have associated hematologic malignancies respond relatively poorly to ERT. […] No evidence shows that ERT results in neurologic improvement.

• #77 Gaucher Disease: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/944157-overview

  The prognosis of type 2 Gaucher disease is universally poor, and depending on the age at presentation and the aggressiveness of management, life expectancy varies from several months to several years. […] The prognosis of type 3 Gaucher disease depends on the severity of disease and age of onset of therapy. Most patients with progressive myoclonic epilepsy associated with GD3 do not fare well. Also those with the cardiac variant associated specifically with genotype D409H/D409H, GD3C often develop valvular calcifications and die of cardiac complications in the second or third decade of life.

• #78 Gaucher | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/gaucher

  Gaucher disease type 2 causes life-threatening medical problems in infancy and progresses quickly. Babies with this form of the condition will usually die between ages two and four. […] Gaucher disease, perinatal lethal form, the most severe type, causes life-threatening complications in-utero or in early infancy. Most infants with this form of the condition die before or shortly after birth.

• #79 Gaucher Disease: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/944157-overview

  The prognosis of type 2 Gaucher disease is universally poor, and depending on the age at presentation and the aggressiveness of management, life expectancy varies from several months to several years. […] The prognosis of type 3 Gaucher disease depends on the severity of disease and age of onset of therapy. Most patients with progressive myoclonic epilepsy associated with GD3 do not fare well. Also those with the cardiac variant associated specifically with genotype D409H/D409H, GD3C often develop valvular calcifications and die of cardiac complications in the second or third decade of life.

• #80 Gaucher Disease Life Expectancy & Prognosis | National Gaucher Foundation

  https://www.gaucherdisease.org/about-gaucher-disease/life-expectancy/

  Neurological symptoms may include abnormal eye muscle movements, trouble with coordination, mental deterioration, and seizures. […] Patients with Gaucher disease type 3 have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s. […] Left untreated, Gaucher disease can cause permanent damage to your body and even shorten your life.

• #81

  https://www.jscreen.org/hereditary-diseases/gaucher-disease?srsltid=AfmBOor3CJCFQmVTwCUn3H0K38XYzcfNdHL2kiEn87am7vG1hBsJeO8H

  With treatment, those with type 1 Gaucher disease are expected to have a normal lifespan. Individuals with severe cases of type 1 Gaucher may have symptoms that are more difficult to manage. […] Those with type 2 Gaucher disease often have significant delays and may die between the ages of 2 and 4. In the most severe type 2 cases, death may occur before or shortly after birth. […] Those with type 3 Gaucher disease usually develop symptoms in childhood which slowly worsen over time. While some people have died in childhood, others have lived into their 30s and 40s. […] Those with the perinatal-lethal form of Gaucher disease often die before or shortly after birth. […] The prognosis for those with the cardiovascular form of Gaucher disease depends on the success of valve replacement surgery and treatment of other symptoms.

• #82 Gaucher Disease: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/16234-gaucher-disease

  Pain: Decreased blood flow causes pain in your bones. […] Osteonecrosis: This condition, also known as avascular necrosis, results from a lack of oxygen reaching your bones. […] Bones that fracture easily: Gaucher disease causes osteoporosis, a condition that occurs when your bones dont get enough calcium. […] Neurological symptoms of Gaucher disease types 2 and 3 include: Feeding challenges and developmental delays (in babies with Gaucher disease type 2). […] Cognitive difficulties. […] Seizures, muscle spasms and quick, jerky movements. […] With treatment, people with Gaucher disease type 1 can manage the disorder and lead full lives. […] Without treatment, Gaucher disease can cause permanent damage. […] Treatments can help people with Gaucher disease type 3 live to their 20s or 30s. But the treatment for Gaucher disease type 3 only addresses problems affecting the blood, organs and bones. It doesnt improve brain function or reverse neurological damage. Due to severe brain damage, babies with Gaucher disease type 2 pass away within the first three years.

• #83 Changing clinical manifestations of Gaucher disease in Taiwan | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02895-z

  The presentation of GD3 is subacute or chronic yet clinically heterogeneous; many patients with mild cognitive involvement and a well-controlled seizure disorder live full and productive lives, others suffer from developmental delay and seizure, and still others suffer from cognitive impairment and dementia. […] While the majority of symptoms are amenable to ERT, neurological presentations progress owing to the inability of ERT to cross the blood-brain barrier. […] Patients with GD3 exhibit neurological presentations in addition to visceral, hematological, and skeletal involvement.

• #84 Living with Gaucher Disease

  https://www.gaucher.org.uk/just_diagnosed_living_with_gaucher_disease

  The pain associated with Gaucher disease can range from very mild to extremely severe. Coping with the pain if it does become severe can be a major challenge for people with Gaucher disease. At times painful episodes may occur involving enlarged organs or affected bones. These episodes usually resolve within a week or two, but they can last longer. Sometimes potent medication may be necessary to control the pain during these episodes. […] Some people with Gaucher disease go through periods of severe skeletal pain known as „bone crises.” Joints swell, become shiny, red and inflamed, and actually feel warm to the touch. Sometimes the slightest movement can elicit excruciating pain. if the pain becomes sufficiently severe, it may prevent people from moving about comfortably, or make it difficult to sleep.

• #85 Living with Gaucher Disease

  https://www.gaucher.org.uk/just_diagnosed_living_with_gaucher_disease

  Another challenge faced by some people with Gaucher disease is fatigue that may occur as a consequence of anemia. People who are severely anemic may feel tired, even after a full night’s sleep. Some children may lack the energy and stamina to play with other children. They may have difficulty staying alert in the classroom, or concentrating on their homework. […] At different times, the effects of Gaucher disease can impair mobility for some people. Walking can become tiresome and difficult- especially for long distances or up and down stairs. A decrease in mobility may occur as a response to a bone crisis or as a result of a bone fracture. […] Pronounced liver and/or spleen enlargement can frequently affect a person’s appetite because of the pressure exerted on the stomach. People with Gaucher disease often report a sensation of feeling full, even after having only a few bites of food.

• #86 Living with Gaucher Disease

  https://www.gaucher.org.uk/just_diagnosed_living_with_gaucher_disease

  Another challenge faced by some people with Gaucher disease is fatigue that may occur as a consequence of anemia. People who are severely anemic may feel tired, even after a full night’s sleep. Some children may lack the energy and stamina to play with other children. They may have difficulty staying alert in the classroom, or concentrating on their homework. […] At different times, the effects of Gaucher disease can impair mobility for some people. Walking can become tiresome and difficult- especially for long distances or up and down stairs. A decrease in mobility may occur as a response to a bone crisis or as a result of a bone fracture. […] Pronounced liver and/or spleen enlargement can frequently affect a person’s appetite because of the pressure exerted on the stomach. People with Gaucher disease often report a sensation of feeling full, even after having only a few bites of food.

• #87 Living with Gaucher Disease

  https://www.gaucher.org.uk/just_diagnosed_living_with_gaucher_disease

  Another challenge faced by some people with Gaucher disease is fatigue that may occur as a consequence of anemia. People who are severely anemic may feel tired, even after a full night’s sleep. Some children may lack the energy and stamina to play with other children. They may have difficulty staying alert in the classroom, or concentrating on their homework. […] At different times, the effects of Gaucher disease can impair mobility for some people. Walking can become tiresome and difficult- especially for long distances or up and down stairs. A decrease in mobility may occur as a response to a bone crisis or as a result of a bone fracture. […] Pronounced liver and/or spleen enlargement can frequently affect a person’s appetite because of the pressure exerted on the stomach. People with Gaucher disease often report a sensation of feeling full, even after having only a few bites of food.

• #88 Living with Gaucher Disease

  https://www.gaucher.org.uk/just_diagnosed_living_with_gaucher_disease

  Children with Gaucher disease may grow more slowly than other children. They may be smaller and shorter because more of their energy is used to cope with the disease, and less is available for the growth process. […] Teenagers with Gaucher disease frequently experience a delay in the onset of puberty. […] Depending on the severity of the disease, Gaucher children with reduced agility, with a tendency toward bleeding or bone fractures, or with enlarged spleens may be advised by their physicians to avoid contact sports. […] For individuals with Gaucher disease who first experience disabling symptoms in adulthood, the psychological impact can be great. Adults may feel that they used to have much more stamina to be able to enjoy the varied pleasures of life. They were busy with their families, careers, and social lives. They were independent and mobile. An abrupt onset of severe symptoms may suddenly interfere with career and life plans.

• #89 Living with Gaucher Disease

  https://www.gaucher.org.uk/just_diagnosed_living_with_gaucher_disease

  Children with Gaucher disease may grow more slowly than other children. They may be smaller and shorter because more of their energy is used to cope with the disease, and less is available for the growth process. […] Teenagers with Gaucher disease frequently experience a delay in the onset of puberty. […] Depending on the severity of the disease, Gaucher children with reduced agility, with a tendency toward bleeding or bone fractures, or with enlarged spleens may be advised by their physicians to avoid contact sports. […] For individuals with Gaucher disease who first experience disabling symptoms in adulthood, the psychological impact can be great. Adults may feel that they used to have much more stamina to be able to enjoy the varied pleasures of life. They were busy with their families, careers, and social lives. They were independent and mobile. An abrupt onset of severe symptoms may suddenly interfere with career and life plans.

• #90 Gaucher disease | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/gaucher-disease

  More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation. […] People diagnosed with Gaucher disease typically require periodic tests to track its progression, including: Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density. […] MRI. Using radio waves and a strong magnetic field, an MRI can show whether the spleen or liver is enlarged and if bone marrow has been affected.

• #91 Gaucher disease | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/gaucher-disease

  More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation. […] People diagnosed with Gaucher disease typically require periodic tests to track its progression, including: Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density. […] MRI. Using radio waves and a strong magnetic field, an MRI can show whether the spleen or liver is enlarged and if bone marrow has been affected.

• #92 Gaucher disease | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/gaucher-disease

  More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation. […] People diagnosed with Gaucher disease typically require periodic tests to track its progression, including: Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density. […] MRI. Using radio waves and a strong magnetic field, an MRI can show whether the spleen or liver is enlarged and if bone marrow has been affected.

• #93 Gaucher Disease – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1269/

  Anemia may result from hypersplenism, hemodilution (e.g., pregnancy), iron deficiency, vitamin B12 deficiency, and, in advanced disease, decreased erythropoiesis as a result of bone marrow failure from Gaucher cell infiltration or medullary infarction. […] Individuals with GD have an increased risk of multiple myeloma. […] The increased risk for multiple myeloma has been attributed to chronic immune dysregulation secondary to antigenic properties of the incompletely metabolized substrate. […] Individuals with type 1 GD report improved health-related quality of life after 24-48 months of ERT. […] ERT has been demonstrated to be safe and effective in reversing features resulting from hematologic and visceral (liver/spleen) involvement. […] ERT does not alter the ultimate prognosis of neurologic disease in GD, although treatment can lead to significant improvement in systemic manifestations and quality of life.

• #94 Gaucher disease // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/gaucher-disease

  More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation. […] Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with: Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial ones. […] If your symptoms are severe and you’re not a candidate for less invasive treatments, your doctor might suggest: Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher signs and symptoms.

• #95 Gaucher Disease

  https://johnshopkinshealthcare.staywellsolutionsonline.com/Library/Wellness/DiseasesConditions/134,211

  Gaucher disease can cause other health problems, such as: Delayed growth, Delayed puberty, Weak bones, Bone pain, Brain damage, Joint pain, Trouble walking or getting around, Not having enough healthy red blood cells (anemia), Extreme tiredness (fatigue), Increased risk of developing Parkinson disease. […] There is no cure for Gaucher disease. But certain treatments may help you control your symptoms. […] Your treatment will depend on what type of Gaucher disease you have. Treatment may include: Enzyme replacement therapy (ERT), Substrate reduction therapy, Medicines to treat your specific symptoms, Regular physical exams and bone density screening to check your disease, Bone marrow transplant, Surgery to remove your spleen, Joint replacement surgery, Blood transfusions.

• #96 Gaucher disease // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/gaucher-disease

  More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation. […] Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with: Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial ones. […] If your symptoms are severe and you’re not a candidate for less invasive treatments, your doctor might suggest: Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher signs and symptoms.

• #97 Gaucher Disease

  https://johnshopkinshealthcare.staywellsolutionsonline.com/Library/Wellness/DiseasesConditions/134,211

  Gaucher disease can cause other health problems, such as: Delayed growth, Delayed puberty, Weak bones, Bone pain, Brain damage, Joint pain, Trouble walking or getting around, Not having enough healthy red blood cells (anemia), Extreme tiredness (fatigue), Increased risk of developing Parkinson disease. […] There is no cure for Gaucher disease. But certain treatments may help you control your symptoms. […] Your treatment will depend on what type of Gaucher disease you have. Treatment may include: Enzyme replacement therapy (ERT), Substrate reduction therapy, Medicines to treat your specific symptoms, Regular physical exams and bone density screening to check your disease, Bone marrow transplant, Surgery to remove your spleen, Joint replacement surgery, Blood transfusions.

• #98 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Enzyme replacement therapy (ERT) for type 1 Gaucher disease includes imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). ERT is indicated for patients with type 1 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. Severity and rate of disease progression widely vary, especially in adults, which makes treatment decisions extremely difficult in some patients. […] ERT has a remarkable effect on hepatosplenomegaly, with an average overall decrease of 25% in liver and spleen volume after 6 months of therapy. In most patients with anemia, hemoglobin levels rise by 1.5 g/dL during the first 4-6 months of therapy. […] Skeletal disease is the slowest to respond, with symptomatic improvement described by some within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response. […] The symptoms of patients with Gaucher disease who have associated hematologic malignancies respond relatively poorly to ERT. […] No evidence shows that ERT results in neurologic improvement.

• #99 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Enzyme replacement therapy (ERT) for type 1 Gaucher disease includes imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). ERT is indicated for patients with type 1 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. Severity and rate of disease progression widely vary, especially in adults, which makes treatment decisions extremely difficult in some patients. […] ERT has a remarkable effect on hepatosplenomegaly, with an average overall decrease of 25% in liver and spleen volume after 6 months of therapy. In most patients with anemia, hemoglobin levels rise by 1.5 g/dL during the first 4-6 months of therapy. […] Skeletal disease is the slowest to respond, with symptomatic improvement described by some within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response. […] The symptoms of patients with Gaucher disease who have associated hematologic malignancies respond relatively poorly to ERT. […] No evidence shows that ERT results in neurologic improvement.

• #100 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Enzyme replacement therapy (ERT) for type 1 Gaucher disease includes imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). ERT is indicated for patients with type 1 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. Severity and rate of disease progression widely vary, especially in adults, which makes treatment decisions extremely difficult in some patients. […] ERT has a remarkable effect on hepatosplenomegaly, with an average overall decrease of 25% in liver and spleen volume after 6 months of therapy. In most patients with anemia, hemoglobin levels rise by 1.5 g/dL during the first 4-6 months of therapy. […] Skeletal disease is the slowest to respond, with symptomatic improvement described by some within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response. […] The symptoms of patients with Gaucher disease who have associated hematologic malignancies respond relatively poorly to ERT. […] No evidence shows that ERT results in neurologic improvement.

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