Materiały źródłowe

• #1 CE: Understanding the Nurse’s Role in Managing Gaucher Disease – PubMed

  https://pubmed.ncbi.nlm.nih.gov/29750678/

  Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. […] The purpose of this article is to review the epidemiology and pathophysiology of Gaucher disease, update nurses on advances in newborn screening, diagnosis, and management of this genetic disorder, and highlight the role of nurses in the diagnosis and care of patients with Gaucher disease. […] Although there is no cure for Gaucher disease, it may be treated with enzyme replacement and substrate reduction therapy.

• #2 Gaucher disease: Treatment – UpToDate

  https://www.uptodate.com/contents/gaucher-disease-treatment

  Gaucher disease (GD) is an inborn error of metabolism that affects the recycling of cellular glycolipids. It results from deficiency of a lysosomal enzyme glucocerebrosidase EC3.2.1.45 (also known as glucosylceramidase or acid beta-glucosidase [GBA]). Glucosylceramide (also called glucocerebroside) and several related compounds that ordinarily are degraded to glucose and lipid components by glucocerebrosidase accumulate within the lysosomes of cells in patients with GD. […] Treatment of GD is tailored to the individual patient because of the variability in the manifestations, severity, progression of the disease, and treatment response. GD was the first inherited metabolic disorder for which enzyme replacement therapy (ERT) became available. Additional therapies include substrate reduction therapy (SRT) and supportive care measures to manage associated conditions. Investigations are continuing into alternate treatment strategies, including gene therapy and molecular chaperones.

• #3 Gaucher Disease – StatPearls – NCBI Bookshelf

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

  Gaucher disease results from mutations in the GBA1 gene, leading to deficient glucocerebrosidase activity within lysosomes. This activity comprehensively examines the assessment and management of Gaucher disease while emphasizing the pivotal role of the interprofessional team in collaborating and delivering well-coordinated care to improve patient outcomes. […] Implement evidence-based treatment protocols for Gaucher disease, including enzyme replacement therapy, substrate reduction therapy, and supportive care measures. […] Collaborate with an interprofessional team to provide multidisciplinary care for individuals with Gaucher disease. […] Treatment for Gaucher disease falls into 2 categories: enzyme replacement therapy and substrate reduction therapy. […] Enzyme replacement therapy provides an intravenous infusion containing the enzyme that is deficient or absent in the body.

• #4 Gaucher’s Disease

  https://www.patientcareonline.com/view/gauchers-disease

  Gaucher’s disease is classified into three major types, based on clinical signs and symptoms. Type 1 is the adult or chronic non-neuronopathic form; type 2 is the infantile acute neuronopathic form; and type 3 is the juvenile subacute neuronopathic disorder. The disease’s clinical signs and symptoms may vary greatly depending on the type; even the same type can have different manifestations in different patients. […] Patients with type 1 disease may present with a combination of anemia, low platelet count, massively enlarged liver and spleen, and extensive skeletal disease; or the patient may be completely asymptomatic and the disease discovered accidentally during evaluation for another condition. The choice of treatment modality depends on the clinical picture: hydration, analgesics and narcotics for pain, orthopedic surgery for fracture repair, and blood transfusion for anemia are among the options. Bone marrow transplantation is effective, but the risk of morbidity and mortality is high. Patients with Gaucher’s disease type 1 also may benefit from enzyme replacement therapy with purified placental glucocerebrosidase and gene therapy. This patient’s condition showed clinical improvement following enzyme replacement therapy.

• #5 Finding and Treating Gaucher Disease Type 1 – The Role of the Haematologist | touchONCOLOGY

  https://touchoncology.com/haematology/journal-articles/finding-and-treating-gaucher-disease-type-1-the-role-of-the-haematologist/

  Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews. The majority of patients with GD present with unexplained splenomegaly and/or thrombocytopenia, and the disorder often affects children; consequently, haematologists and paediatricians are ideally placed to diagnose this condition. […] Prompt management of GD type 1 using enzyme-replacement therapy or substrate reduction therapy can reduce the risk of developing long-term GD complications and reverse many of the initial signs/symptoms, thereby improving both quality and duration of life. Treatment is most effective when initiated early; consequently, a prompt diagnosis is essential. […] Despite the importance of early symptom management, people with GD often experience considerable diagnostic delays.

• #6 Gaucher Disease (Gaucher’s Disease) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/gaucher-disease-gauchers-disease/

  Gaucher disease can affect individuals of any ethnic background, although type 1 GD is most prevalent in the AJ population, with a carrier frequency of approximately 1 in 15 and disease prevalence in that population of about 1 in 900. […] Once the diagnosis of GD has been made, type 1 and type 3 GD patients should receive a baseline exam, followed by annual evaluations to monitor disease severity and progression, regardless of symptoms. Type 2 GD should be evaluated monthly, or as otherwise required. […] GD is a progressive disease that requires a watchful waiting approach to monitoring. Many patients report no symptoms, and disease manifestations may be apparent only through laboratory or imaging studies, underscoring the importance of regular evaluation. […] The question of when to initiate treatment depends upon the results of annual evaluations and the impact of symptoms on a patients quality of life.

• #7

  https://journals.lww.com/ajnonline/Fulltext/2018/06000/CE__Understanding_the_Nurse_s_Role_in_Managing.29.aspx?generateEpub=Article%7Cajnonline:2018:06000:00029%7C10.1097/01.naj.0000534823.49739.8b%7C

  Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid -glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. […] Although there is no cure for Gaucher disease, it may be treated with enzyme replacement and substrate reduction therapy. […] The purpose of this article is to review the epidemiology and pathophysiology of Gaucher disease, update nurses on advances in newborn screening, diagnosis, and management of this genetic disorder, and highlight the role of nurses in the diagnosis and care of patients with Gaucher disease. […] The author reviews the epidemiology and pathophysiology of Gaucher diseasean inherited metabolic condition that can affect the spleen, liver, bone, bone marrow, and central nervous systemand discusses recent advances in screening, diagnosis, and management.

• #8 Gaucher Disease Nursing Diagnosis Guidelines Established in Brazil Study

  https://gaucherdiseasenews.com/2018/01/23/gaucher-disease-nursing-diagnosis-guidelines-established-brazilian-study/

  Researchers in Brazil identified a set of signs and symptoms of Gaucher disease to help establish a priority nursing diagnosis for the disease. This allows nurses to distinguish the rare cases of Gaucher from conditions that share some of the same features. […] A nursing diagnosis provides the basis for interventions for which the nurse is accountable. […] The most frequent symptoms were fatigue, lack of appetite, bone and joint pain, and abdominal discomfort. […] As a result, the study identified these nursing diagnoses that characterize Gaucher disease: fatigue; risk for bleeding; chronic pain; acute pain; impaired physical mobility; imbalanced nutrition: eating less than the body requires; risk for developmental delay. […] They said the nursing diagnoses gathered from the study will allow nurses to better address patients’ issues and result in better and more individualized care.

• #9 Finding and Treating Gaucher Disease Type 1 – The Role of the Haematologist | touchONCOLOGY

  https://touchoncology.com/haematology/journal-articles/finding-and-treating-gaucher-disease-type-1-the-role-of-the-haematologist/

  Most patients with early GD symptoms are initially referred to a haematologist and/or paediatrician. […] Studies conducted in adults across Italy suggest that the use of simple diagnostic algorithms and newly-available DBS assays facilitate the diagnosis of GD and avoid unnecessary biopsies, even among physicians without disease-specific expertise. […] Early diagnosis and prompt management of GD has the potential to reduce the risk of long-term GD complications while reversing many of the initial signs/symptoms. Most patients with GD have unexplained splenomegaly and/or thrombocytopenia, and many present during childhood; consequently, the majority of initial referrals are to haematologists and/or paediatricians.

• #10 Gaucher Disease Nursing Diagnosis Guidelines Established in Brazil Study

  https://gaucherdiseasenews.com/2018/01/23/gaucher-disease-nursing-diagnosis-guidelines-established-brazilian-study/

  Researchers in Brazil identified a set of signs and symptoms of Gaucher disease to help establish a priority nursing diagnosis for the disease. This allows nurses to distinguish the rare cases of Gaucher from conditions that share some of the same features. […] A nursing diagnosis provides the basis for interventions for which the nurse is accountable. […] The most frequent symptoms were fatigue, lack of appetite, bone and joint pain, and abdominal discomfort. […] As a result, the study identified these nursing diagnoses that characterize Gaucher disease: fatigue; risk for bleeding; chronic pain; acute pain; impaired physical mobility; imbalanced nutrition: eating less than the body requires; risk for developmental delay. […] They said the nursing diagnoses gathered from the study will allow nurses to better address patients’ issues and result in better and more individualized care.

• #11 Gaucher Disease Nursing Diagnosis Guidelines Established in Brazil Study

  https://gaucherdiseasenews.com/2018/01/23/gaucher-disease-nursing-diagnosis-guidelines-established-brazilian-study/

  Researchers in Brazil identified a set of signs and symptoms of Gaucher disease to help establish a priority nursing diagnosis for the disease. This allows nurses to distinguish the rare cases of Gaucher from conditions that share some of the same features. […] A nursing diagnosis provides the basis for interventions for which the nurse is accountable. […] The most frequent symptoms were fatigue, lack of appetite, bone and joint pain, and abdominal discomfort. […] As a result, the study identified these nursing diagnoses that characterize Gaucher disease: fatigue; risk for bleeding; chronic pain; acute pain; impaired physical mobility; imbalanced nutrition: eating less than the body requires; risk for developmental delay. […] They said the nursing diagnoses gathered from the study will allow nurses to better address patients’ issues and result in better and more individualized care.

• #12 Gaucher Disease Nursing Diagnosis Guidelines Established in Brazil Study

  https://gaucherdiseasenews.com/2018/01/23/gaucher-disease-nursing-diagnosis-guidelines-established-brazilian-study/

  The diagnoses of fatigue, risk for bleeding, chronic pain, acute pain, impaired physical mobility, imbalanced nutrition, and risk for developmental delay “were inferred from the signs and symptoms identified in the sample studied [and] reinforces the selection of these nursing diagnostics as a priority in the care of patients with Gaucher disease,” they added. […] “The above-mentioned nursing diagnoses are in agreement with the defining characteristics and related factors selected from the clinical complaints of patients with Gaucher disease, which provides us [with] a reliable clinical judgment in the choice of interventions and nursing actions …,” they concluded.

• #13 SciELO Brazil – Signs and symptoms in Gaucher Disease: priority nursing diagnoses Signs and symptoms in Gaucher Disease: priority nursing diagnoses

  https://www.scielo.br/j/reben/a/hZqcvBHQVKzXVkffjYGyHfc/

  Objective: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses. […] The establishment of Priority Nursing Diagnoses based on signs and symptoms makes it possible to achieve expected outcomes for each individual in the care context. […] The set of signs and symptoms identified from the clinical evaluation is the defining characteristic that guides the generation of diagnostic hypotheses and help in the selection of a particular Priority Nursing Diagnosis. […] Thus, based on the signs and symptoms that lead to the defining characteristics and, consequently, to the related factors, it is possible to identify Nursing Diagnoses that will subsidize more individualized care for patients with Gaucher disease. […] The priority Nursing Diagnosis identified for the defining characteristics and related factor was Chronic Pain, defined as: Unpleasant sensory and emotional experience associated with actual or potential tissue injury, or described in terms of such injury; sudden or slow onset of any light to intense, constant or recurrent intensity without an anticipated or predictable termination and lasting more than three months.

• #14 SciELO Brazil – Signs and symptoms in Gaucher Disease: priority nursing diagnoses Signs and symptoms in Gaucher Disease: priority nursing diagnoses

  https://www.scielo.br/j/reben/a/hZqcvBHQVKzXVkffjYGyHfc/

  This priority diagnosis presents inherent coagulopathies and impaired hepatic function as risk factors, evidenced in the present study by anemia, thrombocytopenia and hepatomegaly. […] The above mentioned Nursing Diagnoses are in agreement with the defining characteristics and related factors selected from the clinical complaints of patients with Gaucher disease, which provides us a reliable clinical judgment in the choice of interventions and nursing actions that qualify the care. […] The Nursing Diagnoses „Fatigue”, „Risk for Bleeding”, „Chronic Pain”, „Acute Pain”, „Impaired Physical Mobility”, „Imbalanced Nutrition: less than Body Requirements”, and „Risk for Developmental Delay” were inferred from the signs and symptoms identified in the sample studied, this reinforces the selection of these Nursing Diagnostics as a priority in the care of patients with Gaucher Disease.

• #15 Comprehensive Care Team for Gaucher | National Gaucher Foundation

  https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment-team/

  In order to ensure comprehensive disease management and care for Gaucher disease (pronounced go-SHAY), it is, first and foremost, critical to see a Gaucher specialist regularly. […] Additionally it is important to create a team of medical specialists and supporting professionals to keep you in optimal health. […] It is critical that a Gaucher specialist is part of your treatment team. […] Your PCP plays a key role in coordinating your care with specialists. […] While a PCP cannot provide the same care as a Gaucher specialist, your PCP plays an important role in your treatment. […] You may want to see additional specialists who can help track specific symptoms and disorders related to Gaucher disease. […] A liver specialist can be an important member of your team because the liver is one of the organs most often affected by Gaucher disease.

• #16 Carrie’s Journey: Embracing Life with Gaucher Disease | Accessia Health

  https://accessiahealth.org/carries-story-living-with-gaucher-disease/

  I have been incredibly fortunate to have access to some of the best care, including my Gaucher specialist who is a geneticist. She helps me navigate the stressors that are associated with having a genetic disease, providing guidance and expert management of my treatment. […] Last but not least, I could not do this without my flexible, caring, and nurturing nurse. I spend a lot of time with her every other week, and she makes my treatments less daunting and draining. […] Maintaining a consistent healthy lifestyle, including diet and exercise, is vital. […] You must also be your own advocate and never lose hope. Most importantly: know that you are not alone. […] With the right support, people can find the strength to overcome even the toughest challenge.

• #17 Gaucher Disease – StatPearls – NCBI Bookshelf

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

  Gaucher disease results from mutations in the GBA1 gene, leading to deficient glucocerebrosidase activity within lysosomes. This activity comprehensively examines the assessment and management of Gaucher disease while emphasizing the pivotal role of the interprofessional team in collaborating and delivering well-coordinated care to improve patient outcomes. […] Implement evidence-based treatment protocols for Gaucher disease, including enzyme replacement therapy, substrate reduction therapy, and supportive care measures. […] Collaborate with an interprofessional team to provide multidisciplinary care for individuals with Gaucher disease. […] Treatment for Gaucher disease falls into 2 categories: enzyme replacement therapy and substrate reduction therapy. […] Enzyme replacement therapy provides an intravenous infusion containing the enzyme that is deficient or absent in the body.

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

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

  Gaucher disease can be identified using a simple blood test, with a genetic test often used to confirm the diagnosis. Depending on which form of the disease you have and the extent of your symptoms, you may receive enzyme replacement therapy (ERT) or other drugs that help prevent the buildup of fatty materials in your organs. […] There are two main types of treatment for Gaucher disease: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Your doctor may also prescribe or recommend other treatments in certain cases. All of these potential treatments apply only to Gaucher disease types 1 and 3, although they are not effective at preventing or reversing neurological damage in type 3, NORD notes. […] Enzyme replacement therapy (ERT) is the standard treatment for Gaucher disease type 1, and for type 3 when someone does not have serious brain involvement.

• #19 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). Historically, most patients received the recombinant enzyme imiglucerase. This preparation is highly effective in reversing the visceral and hematologic manifestations of Gaucher disease. However, skeletal disease is slow to respond, and pulmonary involvement is relatively resistant to the enzyme. Treatment is typically administered once every other week at a dose of 15-60 U/kg, with a standard adult dose being around 30 U/kg. Good responses have been described with all dose regimens, and the issue of the most suitable initial and maintenance dosages remains controversial. […] 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. Generally, children who present symptomatically, rather than because of family history, may have severe disease manifestations that require early treatment. Presymptomatic treatment with ERT remains controversial because of the lack of prognostic correlation between genotype and disease severity and the high cost of the therapy. While not formally on the Recommended Uniform Screening Panel (RUSP) for newborn screening in the United States, there are an increasing number of states or panels that include GD. This is leading to a new subclass of GD patients, often asymptomatic.

• #20 Gaucher Disease: Symptoms, Causes & Treatment

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

  With regular therapy, Gaucher disease type 1 is treatable. […] Treatment for Gaucher disease type 1 includes: […] People with Gaucher disease need ERT regularly (every two weeks) for treatment to be effective. […] You may receive infusions at an infusion center, or (if you’re tolerating the infusions well) they can be given in your home. […] This treatment decreases fatty chemicals so they can’t build up in your body. […] Early treatment may prevent damage to bones and organs from Gaucher disease type 1. […] With treatment, people with Gaucher disease type 1 can manage the disorder and lead full lives. […] It’s essential to work with a specialist and continue long-term treatments. […] By sticking to a treatment plan and working closely with your healthcare provider, you can relieve symptoms and prevent long-term damage.

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

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

  For most patients with Gaucher disease in the United States, treatment with ERT is typically guided by a geneticist or a hematologist. Patients should receive periodic follow-up at a center familiar with Gaucher disease, if possible. […] 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. An additional increase of 1 g/dL is observed in the subsequent 9-18 months in patients with persistent anemia. The platelet count responds more slowly, doubling on average over 1 year. The hematologic status of patients with splenomegaly must be closely monitored, and splenectomy is still occasionally necessary.

• #22 Gaucher Disease – StatPearls – NCBI Bookshelf

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

  Gaucher disease results from mutations in the GBA1 gene, leading to deficient glucocerebrosidase activity within lysosomes. This activity comprehensively examines the assessment and management of Gaucher disease while emphasizing the pivotal role of the interprofessional team in collaborating and delivering well-coordinated care to improve patient outcomes. […] Implement evidence-based treatment protocols for Gaucher disease, including enzyme replacement therapy, substrate reduction therapy, and supportive care measures. […] Collaborate with an interprofessional team to provide multidisciplinary care for individuals with Gaucher disease. […] Treatment for Gaucher disease falls into 2 categories: enzyme replacement therapy and substrate reduction therapy. […] Enzyme replacement therapy provides an intravenous infusion containing the enzyme that is deficient or absent in the body.

• #23 Gaucher disease type 1 | CUH

  https://www.cuh.nhs.uk/patient-information/gaucher-disease-type-1/

  In Gaucher disease the cells most commonly affected can be found in the liver, spleen and bone marrow. […] If you have any questions about the effects and progression of the disease please do ask your doctor or specialist nurse. […] Gaucher-specific treatment is currently available in the form of enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). […] This is an intravenous infusion usually administered every one to two weeks. It provides you with extra enzyme that will supplement your own and help to reduce the amount of stored material in your cells. […] This is a tablet treatment that you take regularly every day. It helps by slowing down the production of the substances you are building up in your cells. […] Do attend your regular appointments with the lysosomal disorders team so that we can ensure you receive the most appropriate care and can keep you informed of any new developments.

• #24 Gaucher disease type 1 | CUH

  https://www.cuh.nhs.uk/patient-information/gaucher-disease-type-1/

  In Gaucher disease the cells most commonly affected can be found in the liver, spleen and bone marrow. […] If you have any questions about the effects and progression of the disease please do ask your doctor or specialist nurse. […] Gaucher-specific treatment is currently available in the form of enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). […] This is an intravenous infusion usually administered every one to two weeks. It provides you with extra enzyme that will supplement your own and help to reduce the amount of stored material in your cells. […] This is a tablet treatment that you take regularly every day. It helps by slowing down the production of the substances you are building up in your cells. […] Do attend your regular appointments with the lysosomal disorders team so that we can ensure you receive the most appropriate care and can keep you informed of any new developments.

• #25 Gaucher Disease | Mount Sinai – New York

  https://www.mountsinai.org/care/genetics/services/lysosomal-storage-disease/disease-information/gaucher

  Gaucher disease is caused by mutations in the GBA gene. […] There are two FDA-approved treatments for type 1 Gaucher disease. Many patients with type 1 Gaucher disease receive enzyme replacement therapy (ERT), which replaces the missing beta-glucosidase enzyme. ERT can decrease the size of the liver and spleen, stabilize or reverse bone disease, and improve blood counts. It is given intravenously (IV) every two weeks for life. […] The second method of treatment for Gaucher disease is based on the principle of reducing the fatty substance, glucocerebroside, that accumulates to form Gaucher cells. This is called substrate reduction therapy (SRT). This is an oral medication that may be considered in a subset of adults with Gaucher disease. SRT is not yet approved for children.

• #26 Gaucher disease treatment | Gaucher Disease News

  https://gaucherdiseasenews.com/treatments/supportive-care/

  Treatment for Gaucher disease usually includes therapies that address the underlying cause of the disease, as well as supportive treatments to manage symptoms. […] People with Gaucher disease often receive supportive care to help address disease complications. Supportive care may include: pain medications such as non-steroidal anti-inflammatory drugs (NSAIDs) or opioids, medications and supplements to help promote bone health, such as bone-strengthening agents, calcium, and vitamin D, drugs to help normalize blood clotting, blood transfusions to manage low blood cell counts and bleeding, orthopedic surgery to address bone and joint damage, physiotherapy to strengthen the body and improve mobility. […] A splenectomy, or surgical removal of the spleen, also is a supportive care option, though it is relatively uncommon now. The procedure, however, may help address significant spleen damage or persistently low blood cell counts.

• #27 Gaucher disease treatment | Gaucher Disease News

  https://gaucherdiseasenews.com/treatments/supportive-care/

  Treatment for Gaucher disease usually includes therapies that address the underlying cause of the disease, as well as supportive treatments to manage symptoms. […] People with Gaucher disease often receive supportive care to help address disease complications. Supportive care may include: pain medications such as non-steroidal anti-inflammatory drugs (NSAIDs) or opioids, medications and supplements to help promote bone health, such as bone-strengthening agents, calcium, and vitamin D, drugs to help normalize blood clotting, blood transfusions to manage low blood cell counts and bleeding, orthopedic surgery to address bone and joint damage, physiotherapy to strengthen the body and improve mobility. […] A splenectomy, or surgical removal of the spleen, also is a supportive care option, though it is relatively uncommon now. The procedure, however, may help address significant spleen damage or persistently low blood cell counts.

• #28 Gaucher Disease – StatPearls – NCBI Bookshelf

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

  Enzyme replacement therapy will help with the „non-brain” signs and symptoms associated with type 3 Gaucher disease, eg, enlarged organs and skeletal issues. […] Substrate reduction therapy is an orally administered small-molecule drug (not protein) that relies on a strategy distinct from enzyme replacement therapy. […] Hematopoietic stem cell transplantation is another option for treating Gaucher’s disease. […] Splenectomy is rarely used nowadays but can be useful in patients with uncontrolled and serious thrombocytopenia or with severe, uncontrolled abdominal pain. […] Understanding and managing these complications are crucial to improving the quality of life for individuals with Gaucher disease. […] Patient education is instrumental in empowering affected individuals with Gaucher disease and their families. […] Enhancing patient-centered care and improving outcomes for Gaucher’s disease, a complex lysosomal storage disorder, necessitates a multidisciplinary approach involving physicians, advanced care practitioners, nurses, pharmacists, and various healthcare professionals.

• #29 Living With Gaucher Disease

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

  Manage Pain and Fatigue […] 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. […] Gaucher treatments like enzyme replacement therapy (ERT) should help. You or your child can also take pain relievers. Adjust your activity level and take it easy when you hurt. […] 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: Plan rest breaks or naps during the day, break up big tasks into smaller ones, get help with chores or work, go to bed earlier. […] 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.

• #30 Living With Gaucher Disease

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

  Manage Pain and Fatigue […] 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. […] Gaucher treatments like enzyme replacement therapy (ERT) should help. You or your child can also take pain relievers. Adjust your activity level and take it easy when you hurt. […] 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: Plan rest breaks or naps during the day, break up big tasks into smaller ones, get help with chores or work, go to bed earlier. […] 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.

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

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

  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. Patients with bone crises require pain relief, hydration, and close monitoring. A bone scan is sometimes needed to differentiate between a bone crisis and infection. Those who have undergone splenectomy are particularly susceptible to the development of bone disease, even with therapy. […] Other effects of ERT in children with Gaucher disease include an increased growth velocity, weight gain, increased energy levels, and a correction of both delayed puberty and hypermetabolic state. […] The response of patients to ERT widely varies and does not correlate with genotype, disease severity, splenectomy, or age. However, a number of factors, including cirrhosis and portal hypertension, extensive infarction and fibrosis of the spleen, and lung involvement, portend a poor response to therapy.

• #32 Living With Gaucher Disease

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

  Manage Pain and Fatigue […] 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. […] Gaucher treatments like enzyme replacement therapy (ERT) should help. You or your child can also take pain relievers. Adjust your activity level and take it easy when you hurt. […] 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: Plan rest breaks or naps during the day, break up big tasks into smaller ones, get help with chores or work, go to bed earlier. […] 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.

• #33 Living With Gaucher Disease

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

  Manage Pain and Fatigue […] 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. […] Gaucher treatments like enzyme replacement therapy (ERT) should help. You or your child can also take pain relievers. Adjust your activity level and take it easy when you hurt. […] 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: Plan rest breaks or naps during the day, break up big tasks into smaller ones, get help with chores or work, go to bed earlier. […] 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.

• #34 Living With Gaucher Disease

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

  If you’re unsteady on your feet, talk to your doctor about using a cane or a walker to help avoid falls. […] Even though you may not feel like moving around when you’re tired, your body needs exercise to stay healthy. […] The ideal activity program for Gaucher combines strength training, balance exercises, and aerobics (movement that gets your heart pumping). If it’s OK with your doctor, try these: Lift light weights to firm your muscles, do one-leg stands, side steps, and calf raises to improve balance and prevent falls, walk to strengthen your bones. […] 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. Even if you aren’t hungry, you need to eat nutritious meals to stay healthy. […] Your child’s diet should have the right balance of fat, calories, and nutrients to help them grow. You or your child will need lots of calcium and vitamin D to keep your bones strong.

• #35 Living With Gaucher Disease

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

  If you’re unsteady on your feet, talk to your doctor about using a cane or a walker to help avoid falls. […] Even though you may not feel like moving around when you’re tired, your body needs exercise to stay healthy. […] The ideal activity program for Gaucher combines strength training, balance exercises, and aerobics (movement that gets your heart pumping). If it’s OK with your doctor, try these: Lift light weights to firm your muscles, do one-leg stands, side steps, and calf raises to improve balance and prevent falls, walk to strengthen your bones. […] 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. Even if you aren’t hungry, you need to eat nutritious meals to stay healthy. […] Your child’s diet should have the right balance of fat, calories, and nutrients to help them grow. You or your child will need lots of calcium and vitamin D to keep your bones strong.

• #36 Living With Gaucher Disease

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

  Look for ways to make your life more relaxing and less stressful. Exercise can be a big help. You can also try relaxation techniques like yoga or meditation. […] You’ll want to spend a little time making some adjustments in your child’s wardrobe. 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. […] Surround yourself with people who care for and support you or your child. When you feel worried or stressed, turn to close family or friends. Don’t hesitate to ask them for help when you get overwhelmed. […] If you feel sad, ask your doctor for help in finding a psychiatrist or therapist. A counselor can help you or your child learn more about and manage the effects of Gaucher. […] Also ask your doctor about how to join a support group. You’ll meet with other people who are going through the same issues. They can share their experiences and give you tips on how to deal with the daily challenges of living with Gaucher.

• #37 Gaucher disease | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/gaucher-disease?content_id=CON-20248806

  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. […] Having any chronic illness can be difficult, but having a rare disease like Gaucher can be even harder. Few people know about the disease, and even fewer understand the challenges you face. You might find it helpful to talk to someone else who has the Gaucher disease or someone who has a child with the disease. Talk to your doctor about support groups in your area.

• #38 Gaucher disease: Treatment – UpToDate

  https://www.uptodate.com/contents/gaucher-disease-treatment

  The basic goals of treatment are elimination or improvement of symptoms, prevention of irreversible complications, and improvement in the overall health and quality of life. An additional goal in children is optimization of growth. An international panel of clinicians with extensive clinical experience in GD developed a list of therapeutic goals for use as guides for optimal treatment. Regular monitoring is performed to assess the response to therapy, make adjustments when goals are not met, and ensure the maintenance of achieved goals. The frequency of reevaluation depends upon disease severity and should be assessed on an individual basis. […] Visceral, hematologic, skeletal, and other aspects of nonneuronopathic disease are considered separately since each of these components is relatively independent of the others with respect to disease burden and response to therapy. Skeletal manifestations are associated with the greatest morbidity and, once present, are among the least responsive to Gaucher-specific therapy. Enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) may slow or prevent progression of skeletal complications, but osteonecrosis, osteosclerosis, and vertebral compression are irreversible. Early treatment may prevent or lessen the severity of these complications, and therefore, early identification is crucial to improving ultimate outcome.

• #39 Gaucher Disease (Gaucher’s Disease) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/gaucher-disease-gauchers-disease/

  Gaucher disease can affect individuals of any ethnic background, although type 1 GD is most prevalent in the AJ population, with a carrier frequency of approximately 1 in 15 and disease prevalence in that population of about 1 in 900. […] Once the diagnosis of GD has been made, type 1 and type 3 GD patients should receive a baseline exam, followed by annual evaluations to monitor disease severity and progression, regardless of symptoms. Type 2 GD should be evaluated monthly, or as otherwise required. […] GD is a progressive disease that requires a watchful waiting approach to monitoring. Many patients report no symptoms, and disease manifestations may be apparent only through laboratory or imaging studies, underscoring the importance of regular evaluation. […] The question of when to initiate treatment depends upon the results of annual evaluations and the impact of symptoms on a patients quality of life.

• #40 Gaucher Disease (Gaucher’s Disease) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/gaucher-disease-gauchers-disease/

  Gaucher disease can affect individuals of any ethnic background, although type 1 GD is most prevalent in the AJ population, with a carrier frequency of approximately 1 in 15 and disease prevalence in that population of about 1 in 900. […] Once the diagnosis of GD has been made, type 1 and type 3 GD patients should receive a baseline exam, followed by annual evaluations to monitor disease severity and progression, regardless of symptoms. Type 2 GD should be evaluated monthly, or as otherwise required. […] GD is a progressive disease that requires a watchful waiting approach to monitoring. Many patients report no symptoms, and disease manifestations may be apparent only through laboratory or imaging studies, underscoring the importance of regular evaluation. […] The question of when to initiate treatment depends upon the results of annual evaluations and the impact of symptoms on a patients quality of life.

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

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

  In addition, patients with Gaucher disease may require hip replacements or other orthopedic procedures to treat skeletal disease. This is best undertaken after the patient has undergone several months of ERT. […] Patients with massive splenomegaly or severe thrombocytopenia should avoid contact sports and any other activities that place them at risk for splenic rupture or bleeding. […] Monitoring for allergic reactions is essential. […] Monitoring patients who receive taliglucerase or miglustat (Zavesca) every 6 months is recommended. […] Patients with osteoporosis have responded favorably to bisphosphonates. […] Patients not currently on therapy should be monitored at regular intervals for changes in organ size and/or hemoglobin and platelet counts. […] Patients with Gaucher disease who have bone crises may require admission for pain relief. Patients with severe hematologic manifestations may have episodes of bleeding that require inpatient treatment. Children with type 2 Gaucher disease are often hospitalized with failure to thrive or aspiration pneumonias.

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

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

  In addition, patients with Gaucher disease may require hip replacements or other orthopedic procedures to treat skeletal disease. This is best undertaken after the patient has undergone several months of ERT. […] Patients with massive splenomegaly or severe thrombocytopenia should avoid contact sports and any other activities that place them at risk for splenic rupture or bleeding. […] Monitoring for allergic reactions is essential. […] Monitoring patients who receive taliglucerase or miglustat (Zavesca) every 6 months is recommended. […] Patients with osteoporosis have responded favorably to bisphosphonates. […] Patients not currently on therapy should be monitored at regular intervals for changes in organ size and/or hemoglobin and platelet counts. […] Patients with Gaucher disease who have bone crises may require admission for pain relief. Patients with severe hematologic manifestations may have episodes of bleeding that require inpatient treatment. Children with type 2 Gaucher disease are often hospitalized with failure to thrive or aspiration pneumonias.

• #43 Gaucher Disease | UPMC Children’s Hospital of Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/gaucher-disease

  If a doctor diagnosed your child with Gaucher disease, we want you to know you’re not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh is here to help. […] Members of your child’s care team will talk with you about: […] By the end of your visit, you’ll have a Gaucher disease care plan tailored to your child’s needs. […] You’ll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit. […] At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.

• #44 Gaucher Disease

  https://elsevier.health/en-US/preview/gaucher-disease

  Treatment for type 1 or type 3 Gaucher disease will depend on the type of disease, the severity of the disease, and your age. In many cases, you can manage type 1 and type 3 Gaucher disease with medicines that break down lipids or keep them from building up. Your health care provider will help you choose a treatment that is right for you. […] Follow these instructions at home: […] Rest as told by your health care provider. […] Ask your health care provider what activities are safe for you. […] Ask your health care provider what type of exercise is safe for you. You may have limits on how much you can do if your spleen or liver is larger than normal. […] Make sure you have a good support system or help at home. […] Take over-the-counter and prescription medicines only as told by your health care provider. […] Keep all follow-up visits. This is important.

• #45 Gaucher Disease

  https://elsevier.health/en-US/preview/gaucher-disease

  Treatment for type 1 or type 3 Gaucher disease will depend on the type of disease, the severity of the disease, and your age. In many cases, you can manage type 1 and type 3 Gaucher disease with medicines that break down lipids or keep them from building up. Your health care provider will help you choose a treatment that is right for you. […] Follow these instructions at home: […] Rest as told by your health care provider. […] Ask your health care provider what activities are safe for you. […] Ask your health care provider what type of exercise is safe for you. You may have limits on how much you can do if your spleen or liver is larger than normal. […] Make sure you have a good support system or help at home. […] Take over-the-counter and prescription medicines only as told by your health care provider. […] Keep all follow-up visits. This is important.

• #46 Gaucher Disease | Saint Luke’s Health System

  https://www.saintlukeskc.org/health-library/gaucher-disease

  Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). […] 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). This works for types 1 and 3. This treatment involves IV (intravenous) infusion therapy every 2 weeks. This treatment breaks down excess glucocerebroside buildup. […] Follow your healthcare provider’s advice for taking care of yourself. Take your medicines as directed. Go to all of your follow-up medical visits.

• #47 Gaucher Disease – StatPearls – NCBI Bookshelf

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

  Enzyme replacement therapy will help with the „non-brain” signs and symptoms associated with type 3 Gaucher disease, eg, enlarged organs and skeletal issues. […] Substrate reduction therapy is an orally administered small-molecule drug (not protein) that relies on a strategy distinct from enzyme replacement therapy. […] Hematopoietic stem cell transplantation is another option for treating Gaucher’s disease. […] Splenectomy is rarely used nowadays but can be useful in patients with uncontrolled and serious thrombocytopenia or with severe, uncontrolled abdominal pain. […] Understanding and managing these complications are crucial to improving the quality of life for individuals with Gaucher disease. […] Patient education is instrumental in empowering affected individuals with Gaucher disease and their families. […] Enhancing patient-centered care and improving outcomes for Gaucher’s disease, a complex lysosomal storage disorder, necessitates a multidisciplinary approach involving physicians, advanced care practitioners, nurses, pharmacists, and various healthcare professionals.

• #48 Newborn Screening Program – Gaucher Disease

  http://www.idph.state.il.us/healthwellness/fs/gaucher.htm

  Individuals with Gaucher disease are best treated by a team of specialists knowledgeable about the disease, who can offer supportive and symptomatic care. […] Enzyme replacement therapy is available for Gaucher disease type I. It is not typically instituted until clinical symptoms appear, which may be at any age. […] Genetic counseling is recommended for families planning future pregnancies. […] These guidelines should be followed after a diagnosis of Gaucher disease has been confirmed: Follow up with the child’s metabolic disease specialist. […] Recommend genetic counseling services to help the parents understand the complexity surrounding the carrier state and inheritance of this disease. […] Provide parents information on support services, such as the National Gaucher Foundation and the local health department.

• #49 Gaucher Disease: Symptoms, Causes & Treatment

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

  With regular therapy, Gaucher disease type 1 is treatable. […] Treatment for Gaucher disease type 1 includes: […] People with Gaucher disease need ERT regularly (every two weeks) for treatment to be effective. […] You may receive infusions at an infusion center, or (if you’re tolerating the infusions well) they can be given in your home. […] This treatment decreases fatty chemicals so they can’t build up in your body. […] Early treatment may prevent damage to bones and organs from Gaucher disease type 1. […] With treatment, people with Gaucher disease type 1 can manage the disorder and lead full lives. […] It’s essential to work with a specialist and continue long-term treatments. […] By sticking to a treatment plan and working closely with your healthcare provider, you can relieve symptoms and prevent long-term damage.

• #50 Gaucher Disease Type 1

  https://www.healthline.com/health/gaucher-disease-type-1

  Gaucher disease is a rare genetic disorder that causes the buildup of fatty substances in certain organs. […] While theres no cure for Gaucher disease, you or your child can effectively manage symptoms with the help of expert care. […] Although theres no known cure for Gaucher disease, two primary treatments can prevent or lessen symptoms in people with Gaucher disease type 1: Enzyme replacement therapy (ERT) supplements the GCase enzyme, allowing your cells to break down those lipids. ERT can help prevent or reduce bone disease, improve blood counts, and decrease organ enlargement. You receive it by intravenous (IV) infusion about every 2 weeks. […] Depending on your specific circumstances, a doctor may also recommend the following treatments: blood transfusions, vitamin supplements and osteoporosis medication, physical therapy, pain medication, surgery (such as splenectomy or joint replacement), stem cell transplant.

• #51 Gaucher Disease Type 1

  https://www.healthline.com/health/gaucher-disease-type-1

  Treatment can help people stay active and reduce symptoms. In particular, starting ERT or SRT early can help reduce or even prevent irreversible organ damage. […] Your doctor will monitor you for complications associated with Gaucher disease. […] With early diagnosis and treatment, you can expect to live a full and active life with Gaucher disease type 1.

• #52 Living With Gaucher Disease

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

  If you’re unsteady on your feet, talk to your doctor about using a cane or a walker to help avoid falls. […] Even though you may not feel like moving around when you’re tired, your body needs exercise to stay healthy. […] The ideal activity program for Gaucher combines strength training, balance exercises, and aerobics (movement that gets your heart pumping). If it’s OK with your doctor, try these: Lift light weights to firm your muscles, do one-leg stands, side steps, and calf raises to improve balance and prevent falls, walk to strengthen your bones. […] 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. Even if you aren’t hungry, you need to eat nutritious meals to stay healthy. […] Your child’s diet should have the right balance of fat, calories, and nutrients to help them grow. You or your child will need lots of calcium and vitamin D to keep your bones strong.

• #53 Living With Gaucher Disease

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

  Look for ways to make your life more relaxing and less stressful. Exercise can be a big help. You can also try relaxation techniques like yoga or meditation. […] You’ll want to spend a little time making some adjustments in your child’s wardrobe. 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. […] Surround yourself with people who care for and support you or your child. When you feel worried or stressed, turn to close family or friends. Don’t hesitate to ask them for help when you get overwhelmed. […] If you feel sad, ask your doctor for help in finding a psychiatrist or therapist. A counselor can help you or your child learn more about and manage the effects of Gaucher. […] Also ask your doctor about how to join a support group. You’ll meet with other people who are going through the same issues. They can share their experiences and give you tips on how to deal with the daily challenges of living with Gaucher.

• #54 Carrie’s Journey: Embracing Life with Gaucher Disease | Accessia Health

  https://accessiahealth.org/carries-story-living-with-gaucher-disease/

  I have been incredibly fortunate to have access to some of the best care, including my Gaucher specialist who is a geneticist. She helps me navigate the stressors that are associated with having a genetic disease, providing guidance and expert management of my treatment. […] Last but not least, I could not do this without my flexible, caring, and nurturing nurse. I spend a lot of time with her every other week, and she makes my treatments less daunting and draining. […] Maintaining a consistent healthy lifestyle, including diet and exercise, is vital. […] You must also be your own advocate and never lose hope. Most importantly: know that you are not alone. […] With the right support, people can find the strength to overcome even the toughest challenge.

• #55 Newborn Screening Program – Gaucher Disease

  http://www.idph.state.il.us/healthwellness/fs/gaucher.htm

  Individuals with Gaucher disease are best treated by a team of specialists knowledgeable about the disease, who can offer supportive and symptomatic care. […] Enzyme replacement therapy is available for Gaucher disease type I. It is not typically instituted until clinical symptoms appear, which may be at any age. […] Genetic counseling is recommended for families planning future pregnancies. […] These guidelines should be followed after a diagnosis of Gaucher disease has been confirmed: Follow up with the child’s metabolic disease specialist. […] Recommend genetic counseling services to help the parents understand the complexity surrounding the carrier state and inheritance of this disease. […] Provide parents information on support services, such as the National Gaucher Foundation and the local health department.

• #56 Gaucher disease | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/gaucher-disease?content_id=CON-20248806

  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. […] Having any chronic illness can be difficult, but having a rare disease like Gaucher can be even harder. Few people know about the disease, and even fewer understand the challenges you face. You might find it helpful to talk to someone else who has the Gaucher disease or someone who has a child with the disease. Talk to your doctor about support groups in your area.

• #57 Gaucher Disease – StatPearls – NCBI Bookshelf

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

  Enzyme replacement therapy will help with the „non-brain” signs and symptoms associated with type 3 Gaucher disease, eg, enlarged organs and skeletal issues. […] Substrate reduction therapy is an orally administered small-molecule drug (not protein) that relies on a strategy distinct from enzyme replacement therapy. […] Hematopoietic stem cell transplantation is another option for treating Gaucher’s disease. […] Splenectomy is rarely used nowadays but can be useful in patients with uncontrolled and serious thrombocytopenia or with severe, uncontrolled abdominal pain. […] Understanding and managing these complications are crucial to improving the quality of life for individuals with Gaucher disease. […] Patient education is instrumental in empowering affected individuals with Gaucher disease and their families. […] Enhancing patient-centered care and improving outcomes for Gaucher’s disease, a complex lysosomal storage disorder, necessitates a multidisciplinary approach involving physicians, advanced care practitioners, nurses, pharmacists, and various healthcare professionals.

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

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

  For most patients with Gaucher disease in the United States, treatment with ERT is typically guided by a geneticist or a hematologist. Patients should receive periodic follow-up at a center familiar with Gaucher disease, if possible. […] 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. An additional increase of 1 g/dL is observed in the subsequent 9-18 months in patients with persistent anemia. The platelet count responds more slowly, doubling on average over 1 year. The hematologic status of patients with splenomegaly must be closely monitored, and splenectomy is still occasionally necessary.

• #59 Gaucher Disease: Symptoms, Causes & Treatment

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

  With regular therapy, Gaucher disease type 1 is treatable. […] Treatment for Gaucher disease type 1 includes: […] People with Gaucher disease need ERT regularly (every two weeks) for treatment to be effective. […] You may receive infusions at an infusion center, or (if you’re tolerating the infusions well) they can be given in your home. […] This treatment decreases fatty chemicals so they can’t build up in your body. […] Early treatment may prevent damage to bones and organs from Gaucher disease type 1. […] With treatment, people with Gaucher disease type 1 can manage the disorder and lead full lives. […] It’s essential to work with a specialist and continue long-term treatments. […] By sticking to a treatment plan and working closely with your healthcare provider, you can relieve symptoms and prevent long-term damage.

• #60 Gaucher Disease: Symptoms, Causes & Treatment

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

  With regular therapy, Gaucher disease type 1 is treatable. […] Treatment for Gaucher disease type 1 includes: […] People with Gaucher disease need ERT regularly (every two weeks) for treatment to be effective. […] You may receive infusions at an infusion center, or (if you’re tolerating the infusions well) they can be given in your home. […] This treatment decreases fatty chemicals so they can’t build up in your body. […] Early treatment may prevent damage to bones and organs from Gaucher disease type 1. […] With treatment, people with Gaucher disease type 1 can manage the disorder and lead full lives. […] It’s essential to work with a specialist and continue long-term treatments. […] By sticking to a treatment plan and working closely with your healthcare provider, you can relieve symptoms and prevent long-term damage.

• #61

  https://journals.lww.com/ajnonline/Fulltext/2018/06000/CE__Understanding_the_Nurse_s_Role_in_Managing.29.aspx?generateEpub=Article%7Cajnonline:2018:06000:00029%7C10.1097/01.naj.0000534823.49739.8b%7C

  Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid -glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. […] Although there is no cure for Gaucher disease, it may be treated with enzyme replacement and substrate reduction therapy. […] The purpose of this article is to review the epidemiology and pathophysiology of Gaucher disease, update nurses on advances in newborn screening, diagnosis, and management of this genetic disorder, and highlight the role of nurses in the diagnosis and care of patients with Gaucher disease. […] The author reviews the epidemiology and pathophysiology of Gaucher diseasean inherited metabolic condition that can affect the spleen, liver, bone, bone marrow, and central nervous systemand discusses recent advances in screening, diagnosis, and management.

• #62 Gaucher Disease Nursing Diagnosis Guidelines Established in Brazil Study

  https://gaucherdiseasenews.com/2018/01/23/gaucher-disease-nursing-diagnosis-guidelines-established-brazilian-study/

  The diagnoses of fatigue, risk for bleeding, chronic pain, acute pain, impaired physical mobility, imbalanced nutrition, and risk for developmental delay “were inferred from the signs and symptoms identified in the sample studied [and] reinforces the selection of these nursing diagnostics as a priority in the care of patients with Gaucher disease,” they added. […] “The above-mentioned nursing diagnoses are in agreement with the defining characteristics and related factors selected from the clinical complaints of patients with Gaucher disease, which provides us [with] a reliable clinical judgment in the choice of interventions and nursing actions …,” they concluded.

• #63 Gaucher disease support for members | HealthPartners

  https://www.healthpartners.com/insurance/members/health-programs/gaucher-disease/

  Gaucher disease is a rare, inherited disorder that can affect the liver, spleen and bones. […] Treatments are available for several types of Gaucher disease. With a Gaucher disease diagnosis, you and your care team can develop a plan together to control and treat your symptoms. […] Most people in the U.S. who have Gaucher disease benefit from treatment. You, your specialist and your care team will work together to create a treatment plan that improves your symptoms and maximizes your well-being. Your treatment plan may include: […] In addition to ERT and SRT, your treatment plan will likely include ways to help you live with the disease. This may include: […] Get customized resources, guidance and support from a nurse experienced with Gaucher disease confidentially and at no extra cost. We’ll work with you and your care team to create a plan that helps treat your symptoms and empowers you with the assistance you need.

• #64 Finding and Treating Gaucher Disease Type 1 – The Role of the Haematologist | touchONCOLOGY

  https://touchoncology.com/haematology/journal-articles/finding-and-treating-gaucher-disease-type-1-the-role-of-the-haematologist/

  Most patients with early GD symptoms are initially referred to a haematologist and/or paediatrician. […] Studies conducted in adults across Italy suggest that the use of simple diagnostic algorithms and newly-available DBS assays facilitate the diagnosis of GD and avoid unnecessary biopsies, even among physicians without disease-specific expertise. […] Early diagnosis and prompt management of GD has the potential to reduce the risk of long-term GD complications while reversing many of the initial signs/symptoms. Most patients with GD have unexplained splenomegaly and/or thrombocytopenia, and many present during childhood; consequently, the majority of initial referrals are to haematologists and/or paediatricians.

• #65 Healthcare Professional Page

  https://www.gauchercare.com/hcp

  Gaucher disease type 1 management requires an individualized disease management model that considers the progressive nature of the disease and severity of clinical manifestations. Generally, pre-emptive treatment for GD1 before irreversible complications occur can be more effective at achieving established therapeutic goals than a watchful waiting approach. […] Treatment may improve symptoms and may help prevent certain long-term complications of Gaucher disease type 1. […] Early diagnosis and management of GD1 may help prevent irreversible complications or unnecessary procedures.

• #66

  https://journals.lww.com/ajnonline/Fulltext/2018/06000/CE__Understanding_the_Nurse_s_Role_in_Managing.29.aspx?generateEpub=Article%7Cajnonline:2018:06000:00029%7C10.1097/01.naj.0000534823.49739.8b%7C

  Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid -glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. […] Although there is no cure for Gaucher disease, it may be treated with enzyme replacement and substrate reduction therapy. […] The purpose of this article is to review the epidemiology and pathophysiology of Gaucher disease, update nurses on advances in newborn screening, diagnosis, and management of this genetic disorder, and highlight the role of nurses in the diagnosis and care of patients with Gaucher disease. […] The author reviews the epidemiology and pathophysiology of Gaucher diseasean inherited metabolic condition that can affect the spleen, liver, bone, bone marrow, and central nervous systemand discusses recent advances in screening, diagnosis, and management.

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