Materiały źródłowe

• #1 Systemic mastocytosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/symptoms-causes/syc-20352859

  Signs and symptoms of systemic mastocytosis depend on the part of the body affected by excessive mast cells. Too many mast cells can build up in the skin, liver, spleen, bone marrow or intestines. Less commonly, other organs such as the brain, heart or lungs also may be affected. […] Signs and symptoms of systemic mastocytosis may include: Flushing, itching or hives, Abdominal pain, diarrhea, nausea or vomiting, Anemia or bleeding disorders, Bone and muscle pain, Enlarged liver, spleen or lymph nodes, Depression, mood changes or problems concentrating. […] The mast cells are triggered to produce substances that cause inflammation and symptoms. People have different triggers, but the most common ones include: Alcohol, Skin irritation, Spicy foods, Exercise, Insect stings, Certain medications.

• #2 Mastocytosis: Types, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/5908-mastocytosis

  Mastocytosis symptoms can be mild or severe. Most people can manage mastocytosis symptoms with medication and by avoiding activities and environments that trigger the condition. […] If you have mastocytosis, your body overreacts to allergens, and you have unusually intense or long-lasting allergic reactions. […] This abnormal growth of mast cells causes a range of symptoms, including: Bone pain. Diarrhea. Fainting. Feeling anxious. Flushing (when skin all over the body turns red). Itchy bumps on your skin. Headache. Lightheadedness from a drop in blood pressure. Joint pain. Red or brown patches on your skin. […] Without treatment, systemic mastocytosis symptoms may get worse over time, as abnormal mast cells affect your bone marrow and organs.

• #3 What is Mastocytosis? Types, Symptoms, and Treatment – Allergy & Asthma Network

  https://allergyasthmanetwork.org/mast-cell-diseases/mastocytosis/

  Mastocytosis is a rare disorder and a type of mast cell disease. It is a condition in which there are too many mast cells in the body. […] When there’s too many mast cells in the skin, bone marrow, digestive system, liver, spleen and/or lymph nodes, it can lead to health problems. […] Systemic mastocytosis involves organs and tissues across the whole body. It is more common in adults than children. The symptoms may include (but are not limited to) the skin, digestive tract, liver, spleen and bone marrow. […] Symptoms may involve the skin, bone marrow, liver, spleen, or digestive tract. People with systemic mastocytosis may develop bone pain and fatigue. They may also be at risk for a severe or life-threatening allergic reactions, or anaphylaxis. […] Symptoms reflect the body system involved. It may affect a small area of your body (local). It could affect several body systems (systemic). Symptoms may include: Skin: rash or lesions, swelling, flushing; Breathing: shortness of breath; Stomach: abdominal pain, nausea, vomiting or diarrhea, GERD; Throat: swelling; Brain: headache, brain fog, memory issues, depression, mood changes; Heart: palpitations, blood pressure changes, dizziness, fainting; Bones: bone pain, bone density loss, bone fracture (in severe cases); Blood: anemia, bleeding issues; Organs: enlarged spleen, liver, or lymph nodes; Severe allergic reactions (anaphylaxis).

• #4

  https://www.nhs.uk/conditions/mastocytosis/

  The symptoms of mastocytosis can vary depending on the type. […] The most common symptom of cutaneous mastocytosis is abnormal growths (lesions) on the skin, such as bumps and spots, which can form on the body and sometimes blister. […] Some people with systemic mastocytosis may experience episodes of severe symptoms, often with specific triggers such as physical exertion or stress. Many people do not have any problems. […] During an episode you may have: skin reactions such as itching and flushing, gut symptoms such as diarrhoea and vomiting, muscle and joint pain, mood changes, headaches and tiredness (fatigue). […] Indolent systemic mastocytosis symptoms are usually mild to moderate and vary from person to person; indolent systemic mastocytosis accounts for around 90% of adult systemic mastocytosis cases.

• #5 What is Mastocytosis? Types, Symptoms, and Treatment – Allergy & Asthma Network

  https://allergyasthmanetwork.org/mast-cell-diseases/mastocytosis/

  Mastocytosis is a rare disorder and a type of mast cell disease. It is a condition in which there are too many mast cells in the body. […] When there’s too many mast cells in the skin, bone marrow, digestive system, liver, spleen and/or lymph nodes, it can lead to health problems. […] Systemic mastocytosis involves organs and tissues across the whole body. It is more common in adults than children. The symptoms may include (but are not limited to) the skin, digestive tract, liver, spleen and bone marrow. […] Symptoms may involve the skin, bone marrow, liver, spleen, or digestive tract. People with systemic mastocytosis may develop bone pain and fatigue. They may also be at risk for a severe or life-threatening allergic reactions, or anaphylaxis. […] Symptoms reflect the body system involved. It may affect a small area of your body (local). It could affect several body systems (systemic). Symptoms may include: Skin: rash or lesions, swelling, flushing; Breathing: shortness of breath; Stomach: abdominal pain, nausea, vomiting or diarrhea, GERD; Throat: swelling; Brain: headache, brain fog, memory issues, depression, mood changes; Heart: palpitations, blood pressure changes, dizziness, fainting; Bones: bone pain, bone density loss, bone fracture (in severe cases); Blood: anemia, bleeding issues; Organs: enlarged spleen, liver, or lymph nodes; Severe allergic reactions (anaphylaxis).

• #6 Mastocytosis: Types, Symptoms, Causes, Diagnosis, Treatment and More

  https://www.health.com/mastocytosis-8415852

  Systemic mastocytosis involves mast cell accumulation in the bone marrow and internal organs, such as the gastrointestinal tract, lymph nodes, skin, spleen, or liver. This type is more common in adults and may be indolent (develops slowly) or aggressive (mast cells rapidly build up in the body). […] This type of mastocytosis can lead to a wide range of symptoms, such as fatigue, skin flushing (redness and warmth), nausea, headache, abdominal pain, gastroesophageal reflux, nasal congestion, hypotension (low blood pressure), bone pain, and shortness of breath. […] In addition to the above symptoms, people with cutaneous mastocytosis may experience the following symptoms: Itchy skin, Red or brown lesions (spots) on the skin, Thickened skin, Headaches, Blisters on the skin, Nausea and vomiting, Tachycardia (increased heart rate).

• #7 Mastocytosis Testing & Treatment – Stone Oak Allergy

  https://stoneoakallergy.com/allergies/mastocytosis/

  Cutaneous mastocytosis most often causes urticaria pigmentosa, or itchy, dark red or brown hives on the skin. The discoloration may be small and isolated, or it can become widespread and cover nearly all of the skin. […] Systemic mastocytosis can result in the following symptoms, which may be severe: Urticaria pigmentosa (often the first symptom), dermatographic urticaria, skin flushing, digestive problems, bone pain, fatigue, headache, peptic ulcers, anemia, recurrent anaphylaxis a rare and life-threatening reaction that can include severe breathing difficulty, dramatic blood pressure drop, rapid heartbeat, and hives/swelling.

• #8 Cutaneous and Systemic Manifestations of Mastocytosis | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0601/p3047.html

  Mastocytosis is characterized by an excessive number of apparently normal mast cells in the skin and, occasionally, in other organs. Characteristic skin lesions, called urticaria pigmentosa, are present in most patients, but clinical presentation can vary from a pruritic rash to unexplained collapse and sudden death. […] Patients with mastocytosis often have a long history of chronic and acute symptoms that were unrecognized as mastocytosis. Skin lesions may or may not accompany systemic mastocytosis. Systemic disease may involve the gastrointestinal tract, the bone marrow or other organs. […] Symptoms of mastocytosis occur when pharmacologic or physical stimuli cause mast cell degranulation and release of histamine, prostaglandins, leukotrienes and other chemical mediators. These episodic attacks can be manifested by flushing, urticaria or, in extreme cases, by life-threatening vascular collapse.

• #9 Systemic mastocytosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/symptoms-causes/syc-20352859

  Signs and symptoms of systemic mastocytosis depend on the part of the body affected by excessive mast cells. Too many mast cells can build up in the skin, liver, spleen, bone marrow or intestines. Less commonly, other organs such as the brain, heart or lungs also may be affected. […] Signs and symptoms of systemic mastocytosis may include: Flushing, itching or hives, Abdominal pain, diarrhea, nausea or vomiting, Anemia or bleeding disorders, Bone and muscle pain, Enlarged liver, spleen or lymph nodes, Depression, mood changes or problems concentrating. […] The mast cells are triggered to produce substances that cause inflammation and symptoms. People have different triggers, but the most common ones include: Alcohol, Skin irritation, Spicy foods, Exercise, Insect stings, Certain medications.

• #10 What is Mastocytosis? Types, Symptoms, and Treatment – Allergy & Asthma Network

  https://allergyasthmanetwork.org/mast-cell-diseases/mastocytosis/

  Mastocytosis is a rare disorder and a type of mast cell disease. It is a condition in which there are too many mast cells in the body. […] When there’s too many mast cells in the skin, bone marrow, digestive system, liver, spleen and/or lymph nodes, it can lead to health problems. […] Systemic mastocytosis involves organs and tissues across the whole body. It is more common in adults than children. The symptoms may include (but are not limited to) the skin, digestive tract, liver, spleen and bone marrow. […] Symptoms may involve the skin, bone marrow, liver, spleen, or digestive tract. People with systemic mastocytosis may develop bone pain and fatigue. They may also be at risk for a severe or life-threatening allergic reactions, or anaphylaxis. […] Symptoms reflect the body system involved. It may affect a small area of your body (local). It could affect several body systems (systemic). Symptoms may include: Skin: rash or lesions, swelling, flushing; Breathing: shortness of breath; Stomach: abdominal pain, nausea, vomiting or diarrhea, GERD; Throat: swelling; Brain: headache, brain fog, memory issues, depression, mood changes; Heart: palpitations, blood pressure changes, dizziness, fainting; Bones: bone pain, bone density loss, bone fracture (in severe cases); Blood: anemia, bleeding issues; Organs: enlarged spleen, liver, or lymph nodes; Severe allergic reactions (anaphylaxis).

• #11 Indolent Systemic Mastocytosis Symptoms: Their Effects

  https://www.verywellhealth.com/indolent-systemic-mastocytosis-symptoms-8671769

  Indolent systemic mastocytosis symptoms start in different ways, depending on where in the body the excessive amounts of abnormal mast cells are. […] Indolent systemic mastocytosis symptoms start slowly. They can often begin as problems that seem unrelated or mimic other conditions that include: Frequent diarrhea and stomachaches that resemble any general gastrointestinal disorder. Symptoms that appear to be an unexplained allergic reaction, that occur due to a wide range of triggers, or that suddenly change from neutral to intense. Long-lasting facial flushing and heartburn that resembles a food sensitivity. […] Symptoms of indolent systemic mastocytosis can vary widely. While skin symptoms like urticaria pigmentosa can remain chronic, many symptoms spontaneously occur and go away in reaction to triggers. It is possible to experience episodes of severe symptoms that worsen when the mast cells release excess amounts of histamine.

• #12 Mast Cell Disorder Treatment – Brigham and Women’s Hospital

  https://www.brighamandwomens.org/medicine/gastroenterology-hepatology-and-endoscopy/advances-newsletters/reducing-gastrointestinal-symptoms-using-mast-cell-disorder-identification-and-treatment

  Brigham and Women’s Hospital (BWH) gastroenterologists Norton J. Greenberger, MD, and Matthew J. Hamilton, MD, specialize in the diagnosis and treatment of mast cell disorders involving the gastrointestinal tract. […] Patients enrolled in the study had at least four of the signs and symptoms of abdominal pain, diarrhea, flushing, dermatographism, memory and concentration difficulties, or headache. Among the most common symptoms, 94 percent had abdominal pain, 89 percent had flushing, 89 percent had dermatographism, and 72 percent had all three symptoms. […] While most patients respond very well to treatment, they often suffer for years before receiving a correct diagnosis. […] Current testing for patients with mast cell activation syndrome is based on blood and urine tests that have limited accuracy and sensitivity, and the diagnosis is often made only when other disorders have been ruled out, said Dr. Hamilton.

• #13 Mastocytosis Clinical Presentation: History, Physical Examination, Complications

  https://emedicine.medscape.com/article/1057932-clinical

  Mastocytosis patients may present with cutaneous lesions, systemic symptoms of an acute nature, and/or chronic systemic symptoms. […] Most patients have pruritic cutaneous lesions. Some patients, especially those with extensive cutaneous disease, experience acute systemic symptoms exacerbated by certain activities or ingestion of certain drugs or foods. Possible systemic symptoms include flushing, headache, dyspnea, wheezing, rhinorrhea, nausea, vomiting, diarrhea, and syncope. […] Patients also may have chronic systemic symptoms involving various organ systems. Involvement of the skeletal system may be manifested as bone pain or the new onset of a fracture. Long-term exposure to heparin and stem cell factor from degranulated mast cells is believed to put patients at risk for osteoporosis.

• #14 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Most adults with systemic mastocytosis have infiltration of one or more internal organs with abnormal mast cells and can present with or without cutaneous mastocytosis. […] Mastocytosis may be suspected when there are persistent symptoms of mast cell mediator release, especially in the absence of known triggers of mast cell mediator release, such as allergy or certain medications. Patients may experience one or more of the symptom groups listed. Symptoms of Mastocytosis include: Anaphylaxis Itching, flushing, hives, swelling Wheezing or shortness of breath Sinus congestion and pressure Throat swelling Palpitations, changes in blood pressure, dizziness, fainting Nausea, vomiting, abdominal pain, diarrhea Uterus cramps/bleeding Bone or muscle pain, osteopenia, osteoporosis Headache, brain fog, anxiety, short memory span, depression

• #15 Mast Cell Activation Syndrome: Symptoms, Causes, and Treatment

  https://www.webmd.com/allergies/what-is-mast-cell-activation-syndrome

  Many different symptoms affect lots of your body systems all at once. These can happen after eating foods, smelling certain fragrances, exercising, and more. […] Some key symptoms include: Swelling, Itching, Rashes, Inflammation, Vomiting, Chronic pain, Flushing, Diarrhea, Constipation, Sweats, Abdominal pain, Fatigue. […] MCAS may also cause symptoms that involve your brain and nerves, including: Memory problems, Headaches, Balance problems, Fainting, Brain fog, Fast heart rate or slow heart rate, Shortness of breath, Anxiety, Depression, Mood swings, Heart palpitations, Sleeping problems, Trouble swallowing, Irregular heart rhythm, Sensitivity to sound or light, Dizziness or lightheadedness, Excessive drooling. […] You’re likely to have a potentially life-threatening allergic reaction called anaphylactic shock when you have MCAS. Symptoms of anaphylactic shock include: Fast heartbeat, Low blood pressure, Fainting, Hives, Itchy, pale, or flushed skin, Difficulty breathing, Difficulty swallowing, Swelling in your throat, lips, and tongue, Stomach pain, Tightness in your chest, Diarrhea, Vomiting, Wheezing, Lightheadedness, Confusion, Sudden weakness, Unconsciousness.

• #16

  https://www.nhs.uk/conditions/mastocytosis/symptoms/

  Some people with severe symptoms experience a sudden fall in blood pressure during an attack. […] Low blood pressure (hypotension) can trigger a number of associated symptoms, such as: dizziness, fainting, blurred vision, confusion, generally feeling weak. […] If you have systemic mastocytosis or extensive cutaneous mastocytosis, your risk of a severe allergic reaction (anaphylaxis) is increased. […] It’s important to look out for the initial symptoms of anaphylaxis, which include: itchy skin or a raised, red rash, swollen eyes, lips, hands and feet, feeling lightheaded or faint, narrowing of the airways, which can cause wheezing and breathing difficulties, stomach pain, feeling and being sick.

• #17 Mastocytosis Presenting as a Recurrence of Syncopal Episodes | Farah | Journal of Medical Cases

  https://www.journalmc.org/index.php/JMC/article/view/254/200

  Systemic mastocytosis is an uncommon disease that can present in a variety of ways. […] This patient was admitted to our department of internal medicine because of flushing, hypotension and episodes of syncope. […] Episodic flushing with hypotension is common in a variety of relatively uncommon endocrine disorders like carcinoid syndrome, medullary carcinoma of thyroid and systemic mastocytosis. […] The patient described here was admitted to our department of internal medicine because of the flushing and hypotension that was documented by an ambulance paramedic. […] Each episode was expressed by hypotension, palpitations, sensation of pressure in his chest and flushing. […] On the fifth day after admission, and because the patients work-up was negative, although extensive, we put a systemic mastocytosis on the differential diagnosis list and we performed a bone marrow examination and found paratrabecular aggregates of mast cells mixed with small lymphocytes.

• #18 Neuropsychiatric, cognitive and sexual impairment in mastocytosis patients | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01747-y

  Mastocytosis is a rare disease characterised by the accumulation and/or proliferation of abnormal mast cells (MCs) in one or several organs. It may present with a number of different symptoms that involve various organ systems. […] The prevalence of MC mediator-related systemic symptoms was as follows: cutaneous (71%), gastro-intestinal (48%), cardio-vascular (36%), musculoskeletal (26.6%), fatigue (24%), urinary (14.4%) and respiratory (10%). Headaches and vertigo were noted in respectively 55% and 32% of patients. Irritability, episodes of memory loss and difficulty concentrating were reported in 54%, 52% and 40% of cases, respectively. Sexual impairment was noted in 24% of patients. […] Among neurological symptoms, headaches were noted in 55% of patients and vertigo in 32% of patients. Approximately one half of patients suffered psycho-cognitive impairment with irritability, episodes of memory loss and difficulty concentrating reported in 54%, 52% and 40% of cases, respectively. Neurological, psychiatric, and cognitive impairment in our cohort was considered as mild to moderate in the majority of patients. Sexual impairment was noted in 24% of patients. Out of those, sexual impairment was considered severe or intolerable in 23% of cases.

• #19 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Neuropsychiatric manifestations, including depression, mood changes, lack of concentration, short memory span, increased somnolence, irritability, as well as emotional instability, are commonly witnessed in adult patients with mastocytosis. […] Diffuse musculoskeletal pain of the long bones and a pain syndrome resembling fibromyalgia may appear in patients with systemic mastocytosis. […] A subset of patients with systemic mastocytosis appears to be at increased risk of developing osteopenia and osteoporosis. […] The most common hematologic abnormality is mild-to-moderate anemia, which occurs in up to 50 percent of patients. […] Gastrointestinal symptoms can be precipitated by the same triggers that cause systemic symptoms. Signs and symptoms include abdominal pain, diarrhea, nausea, vomiting, peptic ulcer disease, and gastrointestinal bleeding. […] The disease subtype is one of the strongest prognostic predictors in systemic mastocytosis. […] Certain clinical features are associated with an increased risk of death due to disease progression, independent of the category of systemic mastocytosis present.

• #20 Neuropsychiatric, cognitive and sexual impairment in mastocytosis patients | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01747-y

  Depression was noted in almost half of patients (49%) and was mild in 33.3% of patients and moderate and severe in 7.4% and 5.6% of patients, respectively. […] One in 4 patients declared that the disease had a negative impact on their professional life. This effect was considered severe or intolerable in 45% of cases. […] Our current study indicates that mastocytosis patients have a high prevalence of potentially disabling symptoms. Among patients not receiving anti-depressant therapies, some 49% were depressed according to an analysis based on the Hamilton score. Headaches were also noted in one out of two patients of our cohort and were associated to anti-histamine treatment. Episodes of vertigo were noted in one out of every three patients. Cognitive and sexual impairment were also prevalent, affecting up to 50% and 25% of patients, respectively.

• #21 Systemic mastocytosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/symptoms-causes/syc-20352859

  Signs and symptoms of systemic mastocytosis depend on the part of the body affected by excessive mast cells. Too many mast cells can build up in the skin, liver, spleen, bone marrow or intestines. Less commonly, other organs such as the brain, heart or lungs also may be affected. […] Signs and symptoms of systemic mastocytosis may include: Flushing, itching or hives, Abdominal pain, diarrhea, nausea or vomiting, Anemia or bleeding disorders, Bone and muscle pain, Enlarged liver, spleen or lymph nodes, Depression, mood changes or problems concentrating. […] The mast cells are triggered to produce substances that cause inflammation and symptoms. People have different triggers, but the most common ones include: Alcohol, Skin irritation, Spicy foods, Exercise, Insect stings, Certain medications.

• #22 Mastocytosis presenting as a skeletal disorder.

  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2378151/

  Mastocytosis is a rare disease of mast-cell proliferation with involvement of the reticuloendothelial systems including skin, bone, gastrointestinal tract, liver, lungs, spleen, and lymph nodes. […] Systemic mastocytosis is characterized by a combination of symptoms that relate to the mast cells’ release of vasoactive substances, such as histamine. These symptoms include urticaria pigmentosa, flushing, syncope with hypotension, headaches, nausea, vomiting, diarrhea, and occasional bronchospasm. […] A well recognized roentgenographic feature seen in 70-75% of patients with mastocytosis is diffuse osteolysis and osteosclerosis, affecting primarily the axial skeleton and the ends of the long bones. […] Rarely, the bony involvement consists of generalized osteoporosis, which may lead to pathologic fracture, or solitary lesions (mastocytomas) which may cause symptoms of localized pain. […] Clinical and laboratory evaluation of these patients eventually led to the correct diagnosis of systemic mastocytosis. […] Knowledge of a wide differential diagnosis of unusual skeletal lesions should include systemic mastocytosis.

• #23 Advanced Systemic Mastocytosis: Symptoms, Causes, Diagnosis, and Treatment

  https://www.everydayhealth.com/rare-diseases/advanced-systemic-mastocytosis/

  Systemic mastocytosis is a rare blood disorder in which too many mast cells accumulate in various parts of the body. Advanced forms of systemic mastocytosis have more significant symptoms and in some cases can become forms of cancer. […] Most people with systemic mastocytosis have mild symptoms that can be managed with medications and lifestyle changes. But in rare cases, systemic mastocytosis progresses to advanced systemic mastocytosis, which brings harder-to-control symptoms and can become cancer. […] The symptoms of advanced systemic mastocytosis can vary widely and depend on the number of mast cells and where they are located. […] Common symptoms of systemic mastocytosis include: Anaphylaxis: Episodes of anaphylaxis, characterized by flushing, fainting, gastrointestinal symptoms, low blood pressure, and fast heart rate, are potentially life-threatening.

• #24 Mastocytosis – Wikipedia

  https://en.wikipedia.org/wiki/Mastocytosis

  People affected by mastocytosis are susceptible to a variety of symptoms, including itching, hives, and anaphylactic shock, caused by the release of histamine and other pro-inflammatory substances from mast cells. […] When mast cells undergo degranulation, the substances that are released can cause a number of symptoms that can vary over time and can range in intensity from mild to severe. Because mast cells play a role in allergic reactions, the symptoms of mastocytosis often are similar to the symptoms of an allergic reaction. They may include, but are not limited to: Fatigue, Skin lesions (urticaria pigmentosa), itching, and dermatographic urticaria (skin writing), „Darier’s Sign”, a reaction to stroking or scratching of urticaria lesions, Abdominal discomfort, Nausea and vomiting, Diarrhea, Olfactive intolerance, Ear/nose/throat inflammation, Anaphylaxis (shock from allergic or immune causes), Episodes of very low blood pressure (including shock) and faintness, Bone or muscle pain, Decreased bone density or increased bone density (osteoporosis or osteosclerosis), Headache, Depression, Ocular discomfort, Increased stomach acid production causing peptic ulcers, Malabsorption (due to inactivation of pancreatic enzymes by increased acid), Hepatosplenomegaly. […] Patients with indolent systemic mastocytosis have a normal life expectancy. The prognosis for patients with advanced systemic mastocytosis differs depending on type of disease with MCL being the most serious form with short survival.

• #25 Systemic mastocytosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/systemic-mastocytosis/

  The severe types include aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia. These types are associated with a reduced life span, which varies among the types and affected individuals. In addition to the general signs and symptoms of systemic mastocytosis, these types typically involve impaired function of an organ, such as the liver, spleen, or lymph nodes. The organ dysfunction can result in an abnormal buildup of fluid in the abdominal cavity (ascites). Aggressive systemic mastocytosis is associated with a loss of bone tissue (osteoporosis and osteopenia) and multiple bone fractures. Systemic mastocytosis with an associated hematologic neoplasm and mast cell leukemia both involve blood cell disorders or blood cell cancer (leukemia). Mast cell leukemia is the rarest and most severe type of systemic mastocytosis. […] Individuals with the milder forms of the condition generally have a normal or near normal life expectancy, while those with the more severe forms typically survive months or a few years after diagnosis.

• #26 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Most adults with systemic mastocytosis have infiltration of one or more internal organs with abnormal mast cells and can present with or without cutaneous mastocytosis. […] Mastocytosis may be suspected when there are persistent symptoms of mast cell mediator release, especially in the absence of known triggers of mast cell mediator release, such as allergy or certain medications. Patients may experience one or more of the symptom groups listed. Symptoms of Mastocytosis include: Anaphylaxis Itching, flushing, hives, swelling Wheezing or shortness of breath Sinus congestion and pressure Throat swelling Palpitations, changes in blood pressure, dizziness, fainting Nausea, vomiting, abdominal pain, diarrhea Uterus cramps/bleeding Bone or muscle pain, osteopenia, osteoporosis Headache, brain fog, anxiety, short memory span, depression

• #27 Mastocytosis (Mast Cell Disorder): Symptoms and Treatment

  https://patient.info/doctor/mastocytosis-and-mast-cell-disorders

  Mastocytosis symptoms […] The excess release of mediators can cause clinical features such as pruritus, flushing, nausea, vomiting, diarrhoea, abdominal pain, vascular instability and anaphylaxis. […] Patients may present with 'inexplicable’ symptoms related to mast cell mediator release, such as vascular instability, anaphylactic shock, flushing, diarrhoea and headache (sometimes without skin lesions). […] Possible symptoms and signs of systemic mastocytosis are: […] Skin: […] Facial flushing (may be pruritic or burning). […] Gastrointestinal: […] Abdominal pain. […] Diarrhoea or steatorrhoea (due to malabsorption or altered motility). […] Nausea and vomiting. […] Cardiovascular: […] Syncope, hypotension or anaphylactic shock. […] Respiratory: […] Bronchospasm. […] Neurological:

• #28 Mastocytosis: Types, Symptoms, Causes, Diagnosis, Treatment and More

  https://www.health.com/mastocytosis-8415852

  Systemic mastocytosis involves mast cell accumulation in the bone marrow and internal organs, such as the gastrointestinal tract, lymph nodes, skin, spleen, or liver. This type is more common in adults and may be indolent (develops slowly) or aggressive (mast cells rapidly build up in the body). […] This type of mastocytosis can lead to a wide range of symptoms, such as fatigue, skin flushing (redness and warmth), nausea, headache, abdominal pain, gastroesophageal reflux, nasal congestion, hypotension (low blood pressure), bone pain, and shortness of breath. […] In addition to the above symptoms, people with cutaneous mastocytosis may experience the following symptoms: Itchy skin, Red or brown lesions (spots) on the skin, Thickened skin, Headaches, Blisters on the skin, Nausea and vomiting, Tachycardia (increased heart rate).

• #29 Systemic Mastocytosis: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24386-systemic-mastocytosis

  People with systemic mastocytosis may develop raised spots or rashes on their skin. When touched or stroked, the area of skin affected may turn red and start to itch or swell. […] Systemic mastocytosis symptoms may include: Anemia, Bone pain, Excessive bleeding, Fatigue, Flushed skin, Heart palpitations, Hives, Itchy skin, Mood changes or depression, Urticaria pigmentosa (dark, itchy bumps on your skin). […] People with systemic mastocytosis may suddenly develop several symptoms all at once. Healthcare providers may refer to this as a mastocytosis attack or flare. […] Theres no cure for systemic mastocytosis. But healthcare providers have treatment strategies to manage symptoms and complications. […] That depends on the condition type. People with indolent systemic mastocytosis can usually manage their condition with treatment. They have a typical life expectancy. Those with more aggressive types may have shorter lifespans.

• #30

  https://www.nhs.uk/conditions/mastocytosis/

  The symptoms of mastocytosis can vary depending on the type. […] The most common symptom of cutaneous mastocytosis is abnormal growths (lesions) on the skin, such as bumps and spots, which can form on the body and sometimes blister. […] Some people with systemic mastocytosis may experience episodes of severe symptoms, often with specific triggers such as physical exertion or stress. Many people do not have any problems. […] During an episode you may have: skin reactions such as itching and flushing, gut symptoms such as diarrhoea and vomiting, muscle and joint pain, mood changes, headaches and tiredness (fatigue). […] Indolent systemic mastocytosis symptoms are usually mild to moderate and vary from person to person; indolent systemic mastocytosis accounts for around 90% of adult systemic mastocytosis cases.

• #31

  https://111.wales.nhs.uk/mastocytosis/

  The outlook for systemic mastocytosis can vary, depending on the type you have. Indolent systemic mastocytosis should not affect life expectancy, but other types can. […] If you have systemic mastocytosis, you may develop sudden episodes of symptoms that last for around 15-30 minutes. […] The most common symptoms experienced during an episode are: hot flushing, a forceful or rapid heartbeat (heart palpitations), feeling lighthead. […] Less common symptoms during an episode include: headache, shortness of breath, chest pain, feeling sick, diarrhoea. […] In more severe cases of mastocytosis, the following symptoms may occur: weight loss, swelling of the lymph nodes, swelling of the liver which can cause jaundice and make you feel lethargic, swelling of the spleen which can cause tummy and shoulder pain.

• #32

  https://www.nhs.uk/conditions/mastocytosis/symptoms/

  Mastocytosis causes a wide range of symptoms, which can vary depending on the type of mastocytosis you have. […] Skin lesions are a characteristic of cutaneous mastocytosis. […] The most common symptoms experienced during an episode are: hot flushes, a forceful or rapid heartbeat (heart palpitations), feeling lighthead. […] Less common symptoms during an episode include: headache, chest pain, feeling sick, diarrhoea. […] Abnormal mast cells in your bone marrow and organs can also cause related symptoms, including: stomach pain caused by peptic ulcers, joint pain, weakness, fatigue, changes in mental state such as confusion, irritability, poor attention span and impaired memory. […] In more severe cases of mastocytosis, the following symptoms may occur: weight loss, swelling of the lymph nodes, swelling of the liver which can cause jaundice and make you feel lethargic, swelling of the spleen which can cause tummy and shoulder pain.

• #33

  https://111.wales.nhs.uk/mastocytosis/

  The outlook for systemic mastocytosis can vary, depending on the type you have. Indolent systemic mastocytosis should not affect life expectancy, but other types can. […] If you have systemic mastocytosis, you may develop sudden episodes of symptoms that last for around 15-30 minutes. […] The most common symptoms experienced during an episode are: hot flushing, a forceful or rapid heartbeat (heart palpitations), feeling lighthead. […] Less common symptoms during an episode include: headache, shortness of breath, chest pain, feeling sick, diarrhoea. […] In more severe cases of mastocytosis, the following symptoms may occur: weight loss, swelling of the lymph nodes, swelling of the liver which can cause jaundice and make you feel lethargic, swelling of the spleen which can cause tummy and shoulder pain.

• #34 Discover SM Home | Information for HCPs

  https://www.systemicmastocytosis-hcp.com/

  Recognising common symptoms is just the beginning. Systemic mastocytosis (SM) can present in patients as a range of unpredictable and debilitating symptoms across multiple organ systems from skin lesions, anaphylaxis and diarrhoea, to organ damage. […] Early diagnosis of disease and active management of life-threatening symptoms, such as anaphylaxis, are critical. […] In severe episodes, patients may experience palpitations, dizziness and reduced blood pressure due to vasodilation.

• #35 Symptoms and Triggers of Mast Cell Activation – TMS – The Mast Cell Disease Society, IncAccessibilityIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://tmsforacure.org/signs-symptoms-triggers/symptoms-and-triggers-of-mast-cell-activation/

  Mast cells can be activated to release mediators by multiple triggers. […] The myriad symptoms patients with mast cell diseases experience during mast cell activation can wreak havoc on patients on a daily basis, and multiple organ systems, including pulmonary, cardiovascular, dermatologic, gastrointestinal, musculoskeletal, and neurologic can be involved. […] Symptoms may include, but are not limited to: flushing of the face, neck, and chest; headache; tachycardia and chest pain; abdominal pain, bloating, gastroesophageal reflux disease (GERD), diarrhea, vomiting; uterine cramps or bleeding; rashes, including maculopapular cutaneous mastocytosis (MPCM)/urticaria pigmentosa (UP), telangiectatic lesions; bone/muscle pain, osteosclerosis, osteopenia, osteoporosis; itching, +/- rash; blood pressure instability; brain fog, cognitive dysfunction; anxiety/depression; lightheadedness, syncope; and anaphylaxis. […] These symptoms may appear as acute (as in anaphylaxis) or as chronic conditions. […] Anaphylaxis is an acute life-threatening systemic reaction that results from the sudden, rapid, systemic release of mediators.

• #36 Systemic mastocytosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/symptoms-causes/syc-20352859

  Signs and symptoms of systemic mastocytosis depend on the part of the body affected by excessive mast cells. Too many mast cells can build up in the skin, liver, spleen, bone marrow or intestines. Less commonly, other organs such as the brain, heart or lungs also may be affected. […] Signs and symptoms of systemic mastocytosis may include: Flushing, itching or hives, Abdominal pain, diarrhea, nausea or vomiting, Anemia or bleeding disorders, Bone and muscle pain, Enlarged liver, spleen or lymph nodes, Depression, mood changes or problems concentrating. […] The mast cells are triggered to produce substances that cause inflammation and symptoms. People have different triggers, but the most common ones include: Alcohol, Skin irritation, Spicy foods, Exercise, Insect stings, Certain medications.

• #37 Systemic Mastocytosis | Jules Bordet Institute

  https://www.bordet.be/en/systemic-mastocytosis

  Systemic mastocytosis is a rare disease. Mastocytosis is a group of diseases that cause an excessive build up of mast cells in the body. When you suffer from systemic mastocytosis an excess of mast cells builds up in the skin, bone marrow, digestive tract or other body organs. When activated these mast cells release substances that can trigger signs and symptoms similar to those of an allergic reaction. Serious inflammation can sometimes cause organic lesions. The signs and symptoms of systemic mastocytosis depend on the part of the body affected by an excess of mast cells. An excess of mast cells can build up in the skin, liver, spleen, bone marrow or intestines. More rarely, other organs such as the brain, heart or lungs can also be affected […] The signs and symptoms of systemic mastocytosis can include – Flushing, itching.- Abdominal pain, diarrhoea, nausea or vomiting.- Palpitations, feeling faint.- Allergic reactions ranging from urticaria to Quinckes oedema and anaphylaxis – Coughing, shortness of breath, rhinorrhea, lachrymation.- Frequent urination, urinary burning.- Bone and muscle pain.- Depression, mood changes or problems concentrating.- Anaemia or bleeding disorders.- Enlarged liver, spleen or lymph nodes. […] The various triggers for mastocytosis symptoms include: – Insect bites.- Food rich in histamine or histamine liberators.- Physical factors (change in temperature, fever) – Surgery, traumas.- Certain medicines.

• #38 Navigating the Symptoms of Mastocytosis – BLDG Active

  https://www.bldgactive.com/blog-navigating-the-symptoms-of-mastocytosis/?srsltid=AfmBOooP38JlyoqPVIXez4gyhcN3mxKwXbQQSYsQnJ0uFhzUbwR5N-8-

  Mastocytosis is a chronic condition, and there is currently no known cure. However, symptoms can often be managed effectively with the right treatment plan. […] Yes, stress can trigger or exacerbate Mastocytosis symptoms. Practicing stress-reduction techniques such as meditation and yoga may be beneficial.

• #39

• #40

  https://www.nhs.uk/conditions/mastocytosis/

  Aggressive mastocytosis where mast cells multiply in organs, such as the spleen, liver and digestive system; the symptoms are more wide-ranging and severe, although skin lesions are less common. […] People with mastocytosis have an increased risk of developing a severe and life-threatening allergic reaction. This is known as anaphylaxis. […] The increased risk of anaphylaxis is caused by the abnormally high number of mast cells and their potential to release large amounts of histamine into the blood. […] In children, the symptoms of cutaneous mastocytosis usually improve over time, but remain stable in adults. […] The outlook for systemic mastocytosis can vary, depending on the type you have. Indolent systemic mastocytosis should not affect life expectancy, but other types can.

• #41

  https://www.nhs.uk/conditions/mastocytosis/symptoms/

  Some people with severe symptoms experience a sudden fall in blood pressure during an attack. […] Low blood pressure (hypotension) can trigger a number of associated symptoms, such as: dizziness, fainting, blurred vision, confusion, generally feeling weak. […] If you have systemic mastocytosis or extensive cutaneous mastocytosis, your risk of a severe allergic reaction (anaphylaxis) is increased. […] It’s important to look out for the initial symptoms of anaphylaxis, which include: itchy skin or a raised, red rash, swollen eyes, lips, hands and feet, feeling lightheaded or faint, narrowing of the airways, which can cause wheezing and breathing difficulties, stomach pain, feeling and being sick.

• #42 What is Mastocytosis? Types, Symptoms, and Treatment – Allergy & Asthma Network

  https://allergyasthmanetwork.org/mast-cell-diseases/mastocytosis/

  In most cases, mastocytosis is not deadly. In children, the condition usually affects the skin and often gets better as they grow up. In adults, it can be more serious if it affects multiple body organs. […] People with mastocytosis who are at risk for anaphylaxis could face life-threatening symptoms due to a severe allergic reaction. That’s why it is important to keep epinephrine close by for emergency treatment. […] Most people with mastocytosis live long and productive lives. Others with the disease may have more serious problems. The outcome depends on how severe the disease is and which organs are affected. Regular check-ups with a doctor are important to manage the condition.

• #43

  https://111.wales.nhs.uk/mastocytosis/

  Some people with severe symptoms experience a sudden fall in blood pressure during an attack. […] If you have systemic mastocytosis or extensive cutaneous mastocytosis, your risk of a severe allergic reaction (anaphylaxis) is increased. […] It’s important to look out for the initial symptoms of anaphylaxis, which include: itchy skin or a raised, red skin rash, swollen eyes, lips, hands and feet, feeling lightheaded or faint, narrowing of the airways, which can cause wheezing and breathing difficulties, abdominal pain, feeling and being sick.

• #44 Mast Cell Activation Syndrome (MCAS)

  https://www.aaaai.org/conditions-treatments/related-conditions/mcas

  MCAS is a condition in which the patient experiences repeated episodes of the symptoms of anaphylaxis allergic symptoms such as hives, swelling, low blood pressure, difficulty breathing and severe diarrhea. […] The symptoms most consistent with anaphylaxis are: Heart related symptoms: rapid pulse (tachycardia), low blood pressure (hypotension) and passing out (syncope). Skin related symptoms: itching (pruritus), hives (urticaria), swelling (angioedema) and skin turning red (flushing). Lung related symptoms: wheezing, shortness of breath and harsh noise when breathing (stridor) that occurs with throat swelling. Gastrointestinal tract symptoms: diarrhea, nausea with vomiting and crampy abdominal pain. […] Since symptoms of anaphylaxis can be similar to symptoms caused by other conditions that do not involve mast cells, diagnostic criteria assure that mast cell activation is responsible for the episode. These criteria require the presence of anaphylactic symptoms, the elevation of mast cell mediators during symptoms and the resolution of symptoms with appropriate treatment(s).

• #45 Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis

  https://www.mdpi.com/1422-0067/22/5/2684

  Anaphylaxis can also occur in a child with mastocytosis and is difficult to predict reliably. […] However, important risk factors have been identified for anaphylaxis in children. […] In one study, the extent and density of skin lesions and higher serum tryptase values have been identified as risk factors for anaphylaxis in children with mastocytosis. […] Thus, children with severe skin involvement in CM, high serum tryptase levels, and DCM are at higher risk to develop anaphylaxis, particularly during blistering episodes.

• #46

  https://www.nhs.uk/conditions/mastocytosis/

  The symptoms of mastocytosis can vary depending on the type. […] The most common symptom of cutaneous mastocytosis is abnormal growths (lesions) on the skin, such as bumps and spots, which can form on the body and sometimes blister. […] Some people with systemic mastocytosis may experience episodes of severe symptoms, often with specific triggers such as physical exertion or stress. Many people do not have any problems. […] During an episode you may have: skin reactions such as itching and flushing, gut symptoms such as diarrhoea and vomiting, muscle and joint pain, mood changes, headaches and tiredness (fatigue). […] Indolent systemic mastocytosis symptoms are usually mild to moderate and vary from person to person; indolent systemic mastocytosis accounts for around 90% of adult systemic mastocytosis cases.

• #47 Mastocytosis

  https://www.rch.org.au/kidsinfo/fact_sheets/mastocytosis/

  Mastocytosis can come on at any age, but childhood mastocytosis is different to the mastocytosis that adults get. […] For children with mastocytosis, the extra mast cells do not usually cause problems, and almost half of all children affected will have no symptoms. When symptoms are present, they can range from very minor to severe, and may include the following: […] The skin will have one or many pink or brown spots, which may be flat or raised. The spots may be anywhere on the body, but are most commonly found on the torso and limbs. As the condition gets better, the spots often fade, but they may remain for years. […] When the mast cells in the skin release their chemicals, the spots can become itchy, red and swollen (like hives), and occasionally the spots may even form blisters. This is more common after the spots are rubbed or exposed to heat.

• #48 Cutaneous mastocytosis | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/cutaneous-mastocytosis/

  Cutaneous mastocytosis usually presents as lesions on the skin. These can become raised and red, and even blister if rubbed. The lesions may appear brown, leading to the label urticaria pigmentosa. […] The increased production of mast cells by the body increases the risk of allergic type reactions. […] For most people, the condition improves by puberty.

• #49

  https://www.singhealth.com.sg/patient-care/conditions-treatments/mastocytosis

  Mastocytomas are the most common presentation of cutaneous mastocytosis. They present as yellowish-orange to pigmented raised lesions. Although most patients present with one lesion, some patients may present with several lesions. The surface may be irregular, described as having a „peau-de-orange” appearance. Occasionally, blistering can occur at the site of the lesion. Urticaria pigmentosa is the next most common type of cutaneous mastocytosis in children. Patients present with a few to many brownish-grey flat or slightly raised lesions. The lesions of mastocytosis may become red and develop a wheal or blister if rubbed vigorously (Darier’s sign). Some patients may develop systemic symptoms from break-down of mast cells with release of achemical called histamine. These include nausea, abdominal pain, diarrhoea, low blood pressure and breathing difficulties.

• #50 Mastocytosis

  https://www.rch.org.au/kidsinfo/fact_sheets/mastocytosis/

  If there are only one or two spots, the chemicals released by the mast cells are not enough to cause other problems. If there are many spots on the skin, other possible symptoms can include flushing (reddening of the skin), irregular heartbeat, tiredness, headaches, diarrhoea, stomach pain, ulcers, nausea and vomiting. […] Very rarely, reactions such as light-headedness, breathing difficulties, wheezing and even fainting may occur. […] Mastocytosis in children is likely to go away by itself after several years. Seven out of 10 children with mastocytosis affecting their skin can expect a big improvement by the time they are 10 years old. […] Some medications can stimulate mast cells to release histamine (e.g. some pain relievers, cough medicines and anaesthetics can cause problems). […] The cause of mastocytosis is not known. […] Mastocytosis in children is usually a harmless condition that goes away over some years. […] Some children have no symptoms, and some have pink or brown spots on their skin. […] Adult mastocytosis is different to childhood mastocytosis.

• #51 Urticaria Pigmentosa (Mastocytosis of the Skin) | Children’s Mercy Kansas City

  https://www.childrensmercy.org/departments-and-clinics/dermatology/understanding-urticaria-pigmentosa-mastocytosis/

  Urticaria Pigmentosa (UP) is an uncommon rash that affects the skin of infants, children and young adults. […] The rash of UP is not painful but does cause itching in some children. Massive histamine release can cause headaches, flushing (redness of the skin), diarrhea, vomiting, wheezing (breathing hard with a whistling sound), increased heart rate and a decrease in blood pressure. […] Most infants and children will outgrow UP as they get older. New spots may continue to appear as long as the condition lasts. […] If your child has symptoms of itching, your doctor may choose to treat your child with an antihistamine. An antihistamine is a medicine that is used to decrease the release of the histamine from mast cells. […] In rare instances, massive release of histamine in the skin can cause low blood pressure, flushing, or even shock.

• #52

  https://111.wales.nhs.uk/mastocytosis/

  Mastocytosis is a rare condition caused by an excess number of mast cells gathering in the body’s tissues. […] The symptoms of mastocytosis can vary depending on the type. […] The most common symptom of cutaneous mastocytosis is abnormal growths (lesions) on the skin, such as bumps and spots, which can form on the body and sometimes blister. […] Some people with systemic mastocytosis may experience episodes of severe symptoms, often with specific triggers such as physical exertion or stress. Many people do not have any problems. […] During an episode you may have: skin reactions such as itching and flushing, gut symptoms such as being sick and diarrhoea, muscle and joint pain, mood changes, headaches and episodes of tiredness (fatigue). […] In children the symptoms of cutaneous mastocytosis usually improve over time, but remain stable in adults.

• #53 Systemic mastocytosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/diagnosis-treatment/drc-20450478

  Indolent systemic mastocytosis. This is the most common type and usually doesn’t include organ dysfunction. Skin symptoms are common, but other organs may be affected, and the disease may worsen slowly over time. […] Smoldering systemic mastocytosis. This type is associated with more-significant symptoms and may include organ dysfunction and worsening disease over time. […] Aggressive systemic mastocytosis. This rare type is more severe, with significant symptoms, and is usually associated with progressive organ dysfunction and damage. […] Systemic mastocytosis most commonly occurs in adults. Another type of mastocytosis, cutaneous mastocytosis, typically occurs in children and usually affects only the skin. It generally doesn’t progress to systemic mastocytosis. […] Treatment may vary, depending on the type of systemic mastocytosis and the body organs affected. Treatment generally includes controlling symptoms, treating the disease and regular monitoring.

• #54 How is Systemic Mastocytosis Staged and Classified – HealthTree for Systemic Mastocytosis

  https://healthtree.org/mastocytosis/community/how-is-systemic-mastocytosis-staged-and-classified

  Indolent systemic mastocytosis (ISM): This is the most common form of SM. Patients with ISM have symptoms related to mast cell mediator release and/or infiltration, but they do not have organ damage. […] Smoldering systemic mastocytosis (SSM): This is a more aggressive form of SM. Patients with SSM have a high burden of mast cells in their bone marrow and other organs, and they may have signs of organ damage. […] Aggressive systemic mastocytosis (ASM): This is a rare form of SM. Patients with ASM have organ damage caused by the infiltration of mast cells into various organ systems. […] Mast cell leukemia (MCL): This is the most aggressive form of SM. Patients with MCL have a very high burden of mast cells in their bone marrow and other organs, and they have severe organ damage. […] Systemic mastocytosis is a chronic disease that can progress over time. The phases of the disease are typically defined by the stage of the disease, with the early phase characterized by ISM, the intermediate phase by SSM and SM-AHNMD, and the late phase by ASM and MCL. The progression of the disease is usually slow, but it can be rapid in some cases, particularly in patients with ASM or MCL.

• #55 Systemic Mastocytosis: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24386-systemic-mastocytosis

  People with systemic mastocytosis may develop raised spots or rashes on their skin. When touched or stroked, the area of skin affected may turn red and start to itch or swell. […] Systemic mastocytosis symptoms may include: Anemia, Bone pain, Excessive bleeding, Fatigue, Flushed skin, Heart palpitations, Hives, Itchy skin, Mood changes or depression, Urticaria pigmentosa (dark, itchy bumps on your skin). […] People with systemic mastocytosis may suddenly develop several symptoms all at once. Healthcare providers may refer to this as a mastocytosis attack or flare. […] Theres no cure for systemic mastocytosis. But healthcare providers have treatment strategies to manage symptoms and complications. […] That depends on the condition type. People with indolent systemic mastocytosis can usually manage their condition with treatment. They have a typical life expectancy. Those with more aggressive types may have shorter lifespans.

• #56 Indolent Systemic Mastocytosis Symptoms: Their Effects

  https://www.verywellhealth.com/indolent-systemic-mastocytosis-symptoms-8671769

  As a medical term, „indolent” describes a condition that progresses slowly and does not present an immediate threat. Symptoms of indolent systemic mastocytosis, therefore, move gradually. ISM rarely worsens to a more advanced form. […] It also is rare for symptoms of ISM rarely pose an immediate threat or interfere with organ function. Indolent systemic mastocytosis treatment typically involves treating symptoms and reducing the risk of triggers. People with ISM often have low morbidity (chance of becoming ill) and a normal life expectancy, similar to their peers.

• #57 Mastocytosis — DermNet

  https://dermnetnz.org/topics/mastocytosis

  Depending on clinical presentation, systemic mastocytosis can be classified as indolent (slow expansion), smouldering (premalignant), or aggressive. It can be limited to the bone marrow (bone marrow mastocytosis). In rare cases, it may be associated with haematological neoplasia or progress to mast cell leukaemia. […] Severe pruritus (itching), Sleep disturbance, Gastrointestinal upset, Anaphylaxis (especially after stings), Splenomegaly, Hepatomegaly with impaired liver function; rarely ascites and portal hypertension, Aggressive systemic disease (rare) can also lead to cytopaenias, osteoporosis, bone fractures, malabsorption, and weight loss, Progression to mast cell leukaemia (rare, poor prognosis), Mast cell sarcoma, a solid tumour of malignant mast cells (rare). […] Cutaneous mastocytosis is usually self-limiting and benign. If symptomatic, the main aims of management are symptom control and trigger avoidance to prevent anaphylaxis. […] In adults with systemic disease, treatment is more complex and prognosis varies.

• #58

• #59 Systemic mastocytosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/systemic-mastocytosis/

  The severe types include aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia. These types are associated with a reduced life span, which varies among the types and affected individuals. In addition to the general signs and symptoms of systemic mastocytosis, these types typically involve impaired function of an organ, such as the liver, spleen, or lymph nodes. The organ dysfunction can result in an abnormal buildup of fluid in the abdominal cavity (ascites). Aggressive systemic mastocytosis is associated with a loss of bone tissue (osteoporosis and osteopenia) and multiple bone fractures. Systemic mastocytosis with an associated hematologic neoplasm and mast cell leukemia both involve blood cell disorders or blood cell cancer (leukemia). Mast cell leukemia is the rarest and most severe type of systemic mastocytosis. […] Individuals with the milder forms of the condition generally have a normal or near normal life expectancy, while those with the more severe forms typically survive months or a few years after diagnosis.

• #60 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Aggressive systemic mastocytosis patients have more significant symptoms, including enlarged liver and lymph nodes, as well as blood abnormalities such as anemia and low platelets. Patients with systemic mastocytosis with an associated hematologic neoplasm suffer from additional problems caused by the associated blood malignancy. Mast cell leukemia is very rare, but comes with a difficult prognosis and shorter life span.

• #61

• #62 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  Manifestations of systemic mastocytosis may include the following: […] Abdominal pain is the most common GI symptom, followed, by diarrhea, nausea, and vomiting […] Neuropsychiatric manifestations (eg, depression, mood changes, lack of concentration, short memory span, increased somnolence, irritability, and emotional instability) […] Increased risk of developing osteopenia and osteoporosis […] The prognosis in patients with systemic mastocytosis (systemic mast cell disease) is variable. […] However, older patients and those with more extensive systemic disease involving organ systems other than the skin have a poorer prognosis; although their median duration of survival is not known, it appears to be a few years. […] On laboratory studies, elevated lactate dehydrogenase levels are a poor prognostic sign. […] Early evolution into acute leukemia may occur in as many as 32% of patients with aggressive mastocytosis. […] In adults, however, cutaneous mastocytosis frequently progresses to systemic disease.

• #63 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Aggressive systemic mastocytosis patients have more significant symptoms, including enlarged liver and lymph nodes, as well as blood abnormalities such as anemia and low platelets. Patients with systemic mastocytosis with an associated hematologic neoplasm suffer from additional problems caused by the associated blood malignancy. Mast cell leukemia is very rare, but comes with a difficult prognosis and shorter life span.

• #64 Mastocytosis (Mast Cell Disorder): Symptoms and Treatment

  https://patient.info/doctor/mastocytosis-and-mast-cell-disorders

  Headaches. […] Systemic mastocytosis has no known cure and tends to be progressive. […] Prognosis depends on the degree of haematological and organ involvement, as the classification suggests. […] Indolent systemic mastocytosis has a relatively good prognosis – decades of life, using mainly symptomatic treatment, although life-threatening problems can occur. […] Aggressive systemic mastocytosis and mast cell leukaemia have a poorer prognosis. The median survival for aggressive systemic mastocytosis is 41 months and for mast cell leukaemia, less than six months.

• #65 Systemic mastocytosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/symptoms-causes/syc-20352859

  Complications of systemic mastocytosis can include: Anaphylactic reaction. This severe allergic reaction includes signs and symptoms such as rapid heartbeat, fainting, loss of consciousness and shock. If you have a severe allergic reaction, you may need an injection of epinephrine. Blood disorders. These can include anemia and poor blood clotting. Peptic ulcer disease. Chronic stomach irritation can lead to ulcers and bleeding in your digestive tract. Reduced bone density. Because systemic mastocytosis can affect your bones and bone marrow, you may be at risk of bone problems, such as osteoporosis. Organ failure. A buildup of mast cells in body organs can cause inflammation and damage to the organ.

• #66 Navigating the Symptoms of Mastocytosis – BLDG Active

  https://www.bldgactive.com/blog-navigating-the-symptoms-of-mastocytosis/?srsltid=AfmBOooP38JlyoqPVIXez4gyhcN3mxKwXbQQSYsQnJ0uFhzUbwR5N-8-

  There are several complications that can arise from mastocytosis, a condition characterized by an abnormal accumulation of mast cells in various tissues of the body. These complications may vary depending on the type and extent of mastocytosis, but some common complications include: Anaphylaxis: Mast cells release histamine and other chemicals, which can lead to severe allergic reactions. Anaphylaxis is a potentially life-threatening allergic reaction that can cause symptoms such as hives, difficulty breathing, low blood pressure, and loss of consciousness. Bone loss: Mast cells release substances that promote bone resorption, leading to accelerated bone loss and increased risk of osteoporosis. This can result in increased susceptibility to fractures and other bone-related complications. Gastrointestinal symptoms: Mast cells can accumulate in the gastrointestinal tract, leading to symptoms such as abdominal pain, nausea, diarrhea, and malabsorption. In severe cases, gastrointestinal bleeding or obstruction may occur. Skin manifestations: Mastocytosis often presents with skin symptoms such as hives, itching, flushing, and blistering. These symptoms can be triggered by various factors like temperature changes, friction, stress, or exposure to certain medications or foods. Hematological disorders: Mastocytosis can affect the bone marrow, leading to abnormalities in blood cell production. This may result in conditions such as thrombocytopenia (low platelet count), anemia (low red blood cell count), or leukocytosis (high white blood cell count). Liver and spleen enlargement: Mast cell accumulation in the liver and spleen can cause enlargement of these organs. This can lead to abdominal discomfort, loss of appetite, and potentially liver dysfunction. Neurological symptoms: Mast cells can release substances that affect the nervous system, leading to symptoms such as headaches, dizziness, cognitive impairment, and neuropathic pain. Psychological impact: Living with a chronic condition like mastocytosis can have a significant psychological impact, including anxiety, depression, and decreased quality of life.

• #67 Advanced Systemic Mastocytosis: Symptoms, Causes, Diagnosis, and Treatment

  https://www.everydayhealth.com/rare-diseases/advanced-systemic-mastocytosis/

  Gastrointestinal problems: Abdominal pain, nausea, vomiting, diarrhea, or acid reflux are common because of excess mast cells in the digestive tract. […] Fatigue and weakness: People may feel exhausted even after a full night’s sleep, which can interfere with daily activities. […] Bone pain or fractures: Excessive mast cell accumulation in the bones can lead to pain or even fractures, as the bone structure becomes weakened. […] The prognosis for individuals with advanced systemic mastocytosis depends on several factors, including the extent of mast cell accumulation, the organs involved, and the person’s overall health. Depending on the type of advanced systemic mastocytosis a person has, life expectancy may range from less than six months in people with very advanced disease, to three to four years for other subtypes. […] Advanced systemic mastocytosis can lead to several serious complications, such as organ damage, which can lead to dysfunction and organ failure.

• #68 Mastocytosis – Immune Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/immune-disorders/allergic-reactions-and-other-hypersensitivity-disorders/mastocytosis

  Widespread reactions may occur. With systemic mastocytosis, the widespread reactions tend to be severe. They include anaphylactic and anaphylactoid reactions, which cause fainting and a life-threatening drop in blood pressure (shock). […] Systemic mastocytosis may affect bone marrow, and adults with systemic mastocytosis may develop cancers, particularly myeloid leukemias. In these people, life expectancy may be shortened.

• #69 Systemic Mastocytosis: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24386-systemic-mastocytosis

  People with systemic mastocytosis may develop raised spots or rashes on their skin. When touched or stroked, the area of skin affected may turn red and start to itch or swell. […] Systemic mastocytosis symptoms may include: Anemia, Bone pain, Excessive bleeding, Fatigue, Flushed skin, Heart palpitations, Hives, Itchy skin, Mood changes or depression, Urticaria pigmentosa (dark, itchy bumps on your skin). […] People with systemic mastocytosis may suddenly develop several symptoms all at once. Healthcare providers may refer to this as a mastocytosis attack or flare. […] Theres no cure for systemic mastocytosis. But healthcare providers have treatment strategies to manage symptoms and complications. […] That depends on the condition type. People with indolent systemic mastocytosis can usually manage their condition with treatment. They have a typical life expectancy. Those with more aggressive types may have shorter lifespans.

• #70

  https://www.nhs.uk/conditions/mastocytosis/

  Aggressive mastocytosis where mast cells multiply in organs, such as the spleen, liver and digestive system; the symptoms are more wide-ranging and severe, although skin lesions are less common. […] People with mastocytosis have an increased risk of developing a severe and life-threatening allergic reaction. This is known as anaphylaxis. […] The increased risk of anaphylaxis is caused by the abnormally high number of mast cells and their potential to release large amounts of histamine into the blood. […] In children, the symptoms of cutaneous mastocytosis usually improve over time, but remain stable in adults. […] The outlook for systemic mastocytosis can vary, depending on the type you have. Indolent systemic mastocytosis should not affect life expectancy, but other types can.

• #71 Mastocytosis

  https://www.rch.org.au/kidsinfo/fact_sheets/mastocytosis/

  If there are only one or two spots, the chemicals released by the mast cells are not enough to cause other problems. If there are many spots on the skin, other possible symptoms can include flushing (reddening of the skin), irregular heartbeat, tiredness, headaches, diarrhoea, stomach pain, ulcers, nausea and vomiting. […] Very rarely, reactions such as light-headedness, breathing difficulties, wheezing and even fainting may occur. […] Mastocytosis in children is likely to go away by itself after several years. Seven out of 10 children with mastocytosis affecting their skin can expect a big improvement by the time they are 10 years old. […] Some medications can stimulate mast cells to release histamine (e.g. some pain relievers, cough medicines and anaesthetics can cause problems). […] The cause of mastocytosis is not known. […] Mastocytosis in children is usually a harmless condition that goes away over some years. […] Some children have no symptoms, and some have pink or brown spots on their skin. […] Adult mastocytosis is different to childhood mastocytosis.

• #72 Mastocytosis: What It Is and How It’s Diagnosed and Treated | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0601/p3059.html

  Mastocytosis can occur at any age. It’s more serious in adults. It’s usually mild in children, and they often outgrow it. […] The symptoms are different, depending on where the extra mast cells are. You might have a red and itchy rash if there are too many mast cells in your skin. You could get hives or have a rash that looks like freckles. If you rub the rash, it can get red and swollen. Sometimes the mast cells collect at one spot in your skin and cause one large lump. […] You might have diarrhea and stomach pain if the mast cells are in your stomach and intestines. (This is rare). […] In a few patients, the extra mast cells cause a serious reaction, like a bad allergy reaction. The blood pressure may suddenly drop to a low level and cause fainting. The person may have trouble breathing. This reaction can cause death if treatment isn’t started right away. (This kind of severe reaction is very rare.) […] Red, itchy rash […] Rash that looks like freckles […] Hives […] One large lump on the skin […] Diarrhea […] Stomach pain […] Fainting […] Difficulty breathing.

• #73 Mastocytosis (Mast Cell Disorder): Symptoms and Treatment

  https://patient.info/doctor/mastocytosis-and-mast-cell-disorders

  Headaches. […] Systemic mastocytosis has no known cure and tends to be progressive. […] Prognosis depends on the degree of haematological and organ involvement, as the classification suggests. […] Indolent systemic mastocytosis has a relatively good prognosis – decades of life, using mainly symptomatic treatment, although life-threatening problems can occur. […] Aggressive systemic mastocytosis and mast cell leukaemia have a poorer prognosis. The median survival for aggressive systemic mastocytosis is 41 months and for mast cell leukaemia, less than six months.

• #74 What is Mastocytosis? Types, Symptoms, and Treatment – Allergy & Asthma Network

  https://allergyasthmanetwork.org/mast-cell-diseases/mastocytosis/

  In most cases, mastocytosis is not deadly. In children, the condition usually affects the skin and often gets better as they grow up. In adults, it can be more serious if it affects multiple body organs. […] People with mastocytosis who are at risk for anaphylaxis could face life-threatening symptoms due to a severe allergic reaction. That’s why it is important to keep epinephrine close by for emergency treatment. […] Most people with mastocytosis live long and productive lives. Others with the disease may have more serious problems. The outcome depends on how severe the disease is and which organs are affected. Regular check-ups with a doctor are important to manage the condition.

• #75 Cutaneous and Systemic Manifestations of Mastocytosis | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0601/p3047.html

  Many patients with mastocytosis have a long history of chronic symptoms that are occasionally punctuated by acute exacerbations. […] Patients with systemic disease frequently report intermittent, brief spells of urticaria, flushing, pruritus, palpitations, headache, lightheadedness and syncope, rhinorrhea, nausea, vomiting, diarrhea and crampy or burning abdominal pain in association with the ingestion of hot, cold or spicy foods. Gastritis, esophagitis and peptic ulcer disease are common. A period of lethargy usually follows the attacks. […] When urticaria pigmentosa begins in infancy or early childhood, the skin lesions and symptoms eventually abate by adulthood in 50 percent of patients. […] Unlike the childhood disease, adult-onset urticaria pigmentosa usually persists for the patient’s lifetime. […] The prevalence of systemic involvement increases with age, and approaches 15 to 30 percent in adults with skin lesions.

• #76 Advanced systemic mastocytosis

  https://www.medicalnewstoday.com/articles/advanced-systemic-mastocytosis

  The American Academy of Allergy Asthma and Immunology (AAAAI) notes that people may experience multiple symptoms as the condition progresses, affecting different organs. Without early diagnosis and treatment, advanced systemic mastocytosis may lead to tissue damage and organ failure, affecting life expectancy. […] Treatment for advanced systemic mastocytosis aims to slow the progression of the condition and relieve symptoms. […] People with advanced systemic mastocytosis may have a negative outlook and lower life expectancy without treatment. However, treatment may offer benefits to those with the condition. Treatment for advanced systemic mastocytosis can help slow down the progression of the condition and help with managing symptoms.

• #77 Systemic Mastocytosis: Causes, Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/allergies/systemic-mastocytosis

  You may also have some mental health concerns. For instance, you could have attention problems, anxiety, or depression. […] How your disease develops depends a lot on the type of systemic mastocytosis you have. ISM, for instance, is the mildest kind. Your symptoms may slowly get worse. […] The more serious types, such as ASM and MCL, move more rapidly. For ASM, you may need treatment for problems such as bone loss. If you have MCL, which is a rare type, you may get blood disorders, including leukemia. […] Whatever type you have, after your diagnosis, you’ll go to regular follow-up appointments with your doctor. They’ll track your disease and check that your treatments are working.

• #78 Systemic mastocytosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/systemic-mastocytosis/

  The severe types include aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia. These types are associated with a reduced life span, which varies among the types and affected individuals. In addition to the general signs and symptoms of systemic mastocytosis, these types typically involve impaired function of an organ, such as the liver, spleen, or lymph nodes. The organ dysfunction can result in an abnormal buildup of fluid in the abdominal cavity (ascites). Aggressive systemic mastocytosis is associated with a loss of bone tissue (osteoporosis and osteopenia) and multiple bone fractures. Systemic mastocytosis with an associated hematologic neoplasm and mast cell leukemia both involve blood cell disorders or blood cell cancer (leukemia). Mast cell leukemia is the rarest and most severe type of systemic mastocytosis. […] Individuals with the milder forms of the condition generally have a normal or near normal life expectancy, while those with the more severe forms typically survive months or a few years after diagnosis.

• #79 About Systemic Mastocytosis | Blueprint Medicines

  https://itssmthing.com/about-sm.php

  Systemic mastocytosis (pronounced mass-toe-sigh-TOE-sis), or SM for short, is a rare disease estimated to occur in approximately 32,000 people in the U.S. It is caused by an overproduction of abnormal mast cells (a type of white blood cell). […] SM is the buildup of abnormal mast cells in different parts of the body such as the skin, liver, spleen, bone marrow, and digestive tract that can cause a variety of symptoms such as rashes, bone pain, and diarrhea. In advanced cases, mast cells can also cause organ damage. […] People with SM report having multiple seemingly unconnected symptoms in different parts of their body from rashes to GI issues to anaphylaxis and more. […] Some symptoms of SM may seem like common intolerances, or new allergies (for example, developing sudden additional allergies to milk or shellfish, etc.). People with SM sometimes manage their condition by following a strict diet and routinely avoiding triggers at work or in their social lives.

• #80 Systemic Mastocytosis: Rash, Symptoms, and More

  https://www.healthline.com/health/systemic-mastocytosis-what-to-know

  Systematic mastocytosis is a rare disorder in which immune cells, known as mast cells, build up in various internal organs within the body. It can cause an itchy rash, headache, and nausea. […] Mastocytosis is a group of disorders where many mast cells develop and build up in the tissues. […] Indolent systemic mastocytosis is the most common form of the condition. Its associated with fewer mast cells, so it usually causes less severe symptoms. It rarely progresses to a more advanced form of mastocytosis. […] Some common skin symptoms of systemic mastocytosis are itching and flushing. If the condition is systemic, it means youll have symptoms affecting the rest of your body. […] Because systemic mastocytosis may affect different organs in the body, you may experience symptoms elsewhere than the skin. Some additional symptoms of systemic mastocytosis are headache, abdominal or stomach pain, nausea or vomiting.

• #81 Systemic mastocytosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/diagnosis-treatment/drc-20450478

  Identifying and avoiding factors that may trigger your mast cells, such as certain foods, medications or insect stings, can help keep your systemic mastocytosis symptoms under control. […] If you have aggressive systemic mastocytosis, systemic mastocytosis associated with another blood disorder or mast cell leukemia, you may be treated with chemotherapy medications to reduce the number of mast cells. […] Your doctor regularly monitors the status of your condition using blood and urine samples. You may be able to use a special home kit to collect blood and urine samples while you’re experiencing symptoms, which gives your doctor a better picture of how systemic mastocytosis affects your body. Regular bone density measurements can monitor you for problems such as osteoporosis.

• #82 Mastocytosis | Cancer Support Community

  https://www.cancersupportcommunity.org/mastocytosis

  Mastocytosis is a type of disorder that can occur in both children and adults. It is a rare disease that develops when too many mast cells (white blood cells) build up in the body. When these cells continue to grow, they may build up in the bone marrow, the skin, or in other organs. This may cause a number of symptoms; in rare cases, it may lead to organ failure. People with mastocytosis can also be at greater risk for severe symptoms like anaphylaxis. Anaphylaxis is an allergic reaction that has the potential to be life-threatening. […] Symptoms of SM are typically treated with drugs like antihistamines. Antihistamines block the mediators found in the mast cells from being released. […] The signs and symptoms people experience with mastocytosis may differ depending on the subtype they have. These symptoms may be more likely to occur after the person experiences certain situations.

• #83 Treating Indolent Systemic Mastocytosis | AYVAKIT® (avapritinib)

  https://ayvakit.com/indolent-systemic-mastocytosis/

  AYVAKIT (avapritinib) is a prescription medicine used to treat adults with indolent systemic mastocytosis (ISM). […] The most common side effects of AYVAKIT in people with ISM include: swelling around your eyes, dizziness, swelling of your arms and legs, and flushing. […] Cognitive side effects can happen during treatment with AYVAKIT and can be severe. Tell your healthcare provider if you develop any new or worsening cognitive symptoms including forgetfulness, confusion, getting lost, trouble thinking, drowsiness, trouble staying awake (somnolence), word finding problems, seeing objects or hearing things that are not there (hallucinations), or a change in mood or behavior. […] AYVAKIT may cause fertility problems in females and males. Talk to your healthcare provider if this is a concern for you.

• #84 Unintended Benefit of GLP-1 Treatment for Obesity: Resolution of Chronic Systemic Mastocytosis Symptoms : Bariatric Times

  https://bariatrictimes.com/glp1-resolution-chronic-systemic-mastocytosis-symptoms/

  Chronic fatigue was one of her primary symptoms, and she had complete resolution of fatigue within weeks. […] After two months of treatment, she is free of all her previous symptoms of rashes, flushing, itching, and headaches, which had affected her for more than two decades. […] As of six months after the start of her treatment, she remains symptom-free, outside of a transient minor flushing episode during a stressful family situation. […] Specific symptoms depend on where mast cells have excessively developed. […] Symptoms can range from minor to anaphylactic reactions. […] Symptomatic relief of some of the symptoms related to mastocytosis could potentially be subjective. […] Our patient had chronic and exacerbating rashes over her arms and back with flushing that involved much of her body surface area for years. These physical symptoms resolved completely in two weeks after two doses of semaglutide. […] She also had chronic diarrhea as her primary gastrointestinal symptom, and this resolved completely in two weeks as well.

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