Mastocytosis

Disease Overview

Mastocytosis is a rare disorder characterized by abnormal accumulation and activation of mast cells in the skin, bone marrow and internal organs (liver, spleen, gastrointestinal tract and lymph nodes). Mastocytosis can affect both children and adults. Mastocytosis can be classified to a specific type depending on the patient’s symptoms and overall presentation. Cases beginning during adulthood tend to be chronic and involve the bone marrow in addition to the skin, whereas, during childhood, the condition is often marked by skin manifestations with no internal organ involvement and can often resolve during puberty. In adult patients, mastocytosis tends to be persistent, and may progress into a more advanced category in a minority of patients.

Classification

Mastocytosis is a rare condition that affects the mast cells in the body. These cells are part of the immune system and help fight infections, but in mastocytosis, they accumulate abnormally and release chemicals like histamine, leading to various symptoms. The disease can range from mild to severe, depending on how much of the body is affected. There are two main types of mastocytosis:

• Cutaneous mastocytosis (CM): This affects only the skin
• Systemic mastocytosis (SM): This involves other organs like the stomach, liver, spleen and bone marrow

SM can further be divided into non-advanced forms (like indolent SM) and advanced forms (like aggressive SM or mast cell leukemia).

Cutaneous mastocytosis

The skin is the only site of involvement in cutaneous mastocytosis. Urticaria pigmentosa (also known as maculopapular cutaneous mastocytosis) lesions are small, brownish, flat or elevated spots that may be surrounded by reddened, itchy skin when scratched (Darier’s sign). These lesions tend to be more apparent on areas of skin exposed to pressure or rubbing in adult patients. When skin lesions begin during childhood, the skin tends to be the only affected organ. Blistering of skin lesions is seen exclusively in children younger than four years of age.

Based on clinical appearance, prognosis, and disease course, cutaneous mastocytosis can be further categorized into the following: maculopapular cutaneous mastocytosis (MCPM), mastocytoma and diffuse cutaneous mastocytosis. Maculopapular cutaneous mastocytosis and mastocytoma are the most common forms, compared to diffuse cutaneous mastocytosis which is rarer. CM is most often diagnosed within the neonatal period. MCPM lesions may occur on scalp, neck, trunk and extremities. A mastocytoma is a single lesion, or up to 3 individual lesions, that is usually found early in life and resolves spontaneously with age. Diffuse cutaneous mastocytosis (DCM) is seen in children and is the most severe form of cutaneous mastocytosis. The skin is diffusely thickened and has a rough texture, generally without individual distinct lesions. Additional symptoms associated with DCM include itching, blistering, decreased blood pressure (hypotension), diarrhea, gastrointestinal bleeding, reddening of the skin (flushing) and anaphylactic shock.

Indolent systemic mastocytosis

Systemic mastocytosis is the main form of mastocytosis observed in adults whereas it is rarer in children. Systemic disease is defined by pathologic accumulation of mast cells in a tissue other than skin (most commonly bone marrow). Indolent systemic mastocytosis is generally associated with low mast cell burden and presence of mediator-related symptoms. Most patients also have maculopapular skin lesions. Some patients may present with an enlarged liver or spleen and the gastrointestinal tract may also be affected. Life expectancy in ISM is comparable to the general population with low risk of progression (approximately 3-5%) to a more advanced form.

Systemic smoldering mastocytosis

This variant of systemic mastocytosis is characterized by high mast cell burden as evidenced by high level of tryptase (>200 ng/ml) and high degree of bone marrow involvement with mast cells (>30% in biopsy tissue), splenomegaly or hepatomegaly with or without mild abnormalities in production of other blood cells, without an overt hematologic disorder. Patients with SSM may have a higher likelihood of progressing to an advanced disease category below.

The following categories are also known as advanced mastocytosis:

Systemic mastocytosis with an associated hematologic neoplasm

Systemic mastocytosis with an associated hematologic neoplasm affects approximately one-fifth of all patients with systemic mastocytosis. Myeloproliferative and myelodysplastic disorders are the most common diseases associated with this form and patients may lack urticaria pigmentosa-like skin lesions.

Aggressive systemic mastocytosis

In aggressive systemic mastocytosis, there is an impairment or loss of organ function (usually liver, gut, bone or bone marrow) due to mast cell infiltrates. Examples of organ dysfunction include low numbers of white bloods cells, anemia, low platelets, liver dysfunction, malabsorption and pathologic bone fractures associated with large osteolytic bone lesions.

Mast cell leukemia

Mast cell leukemia is an aggressive hematological malignancy characterized by presence of circulating mast cells greater than 10%, or immature mast cells in bone marrow aspirates greater than 20%. This subtype is very rare; however, it is associated with the worst prognosis among all mastocytosis varieties.

Mast cell sarcoma

A mast cell sarcoma is a solid tumor composed of abnormal mast cells invading the tissue. This condition is very rare and often is not associated with additional skin involvement. More aggressive forms of mastocytosis, mast cell leukemias and mast cell sarcomas are very rarely encountered.

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Synonyms

• clonal mast cell disease

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Subdivisions

• cutaneous mastocytosis (CM)
• indolent systemic mastocytosis (ISM)
• systemic smoldering mastocytosis (SSM)
• systemic mastocytosis with an associated hematologic neoplasm (SM-AHN)
• aggressive systemic mastocytosis (ASM)
• mast cell leukemia (MCL)
• mast cell sarcoma (MCS)

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Signs & Symptoms

Mastocytosis symptoms can range from mild to severe and may even become life-threatening. These symptoms are mainly caused by the release of chemicals from mast cells, similar to what happens during an allergic reaction, even if there isn’t a clear allergic trigger. Regular follow-ups are important, especially for those with more advanced forms of the disease.:

Common symptoms due to histamine release may include:

• • Flushing (redness of the skin)
  • Excess stomach acid (leading to heartburn, stomach aches and abdominal discomfort)
  • Bloating and diarrhea

Signs and symptoms in advanced disease may include:

• • Enlargement of the liver, spleen and lymph nodes (requiring regular monitoring)
  • Bone issues, including bone softening (osteoporosis) and deterioration; in some patients bones may thicken in certain areas
  • Cytopenia (low levels of blood cells)
  • Osteolysis (breakdown of bones)
  • Swollen lymph nodes (lymphadenopathy)
  • Enlarged liver (hepatomegaly), impaired liver function, and fluid buildup in the abdomen (ascites) or increased blood pressure in the liver (portal hypertension)
  • Malabsorption (difficulty absorbing nutrients)

Severe episodes (anaphylaxis) may include the following signs and symptoms:

• • Massive release of chemicals from mast cells can cause life-threatening anaphylaxis (anaphylactic shock)
  • Triggers include:
    • Insect stings
    • Physical stress (heat, cold, skin irritation, exercise)
    • Emotional stress
    • Alcohol and spicy foods
    • Certain medications (aspirin, NSAIDs, narcotics, muscle relaxants, radiocontrast material)
  • Symptoms of anaphylaxis:
    • Flushing
    • Low blood pressure (hypotension)
    • Fast heart rate (tachycardia)
    • Loss of consciousness
    • Abdominal cramps

Other symptoms may include:

• • Pain
  • Nausea
  • Headaches
  • Difficulty with memory and concentration
  • General feelings of fatigue and discomfort (malaise)

Some patients with mastocytosis may also experience symptoms related to another blood disorder. These include:

• Fatigue
• Pain in the upper left side of the abdomen (due to an enlarged spleen)
• Easy bruising or bleeding
• Unexplained weight loss

Patients with severe allergic reactions to bee stings or those previously diagnosed with idiopathic (unknown cause) anaphylaxis might actually have mastocytosis, so it’s important to consider this possibility during diagnosis.

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Causes

In mastocytosis, there are changes in a gene called KIT that lead to the over-activation of mast cells, which are part of the immune system. These genetic changes (variants) cause the mast cells to grow uncontrollably and build up in different tissues, leading to symptoms. The most common variant is called D816V and is found in over 90% of adults with mastocytosis and about 40% of children. Around 40% of children have other variants in the KIT gene, but it’s not yet clear if these can predict how severe the disease will be in children.

These variants occur only in certain body cells (somatic variants), meaning they are not passed down from parents to children (they’re not found in sperm or egg cells).

Mast cells release chemicals like histamine, leukotrienes and prostaglandins that cause the symptoms of mastocytosis. For example, histamine can cause itching, trouble breathing, widening of blood vessels and increased stomach acid, which can lead to common symptoms like allergic reactions, skin rashes and stomach discomfort.

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Affected populations

Mastocytosis is considered a rare disease with an incidence and prevalence of 2.77 per 100,000 and of 28.44 per 100,000 respectively.

A study from 2018 in United States showed that the incidence was found to be 0.046 per 10,000 among general population. Incidence was found to be higher among Caucasians compared to African Americans. Mastocytosis affects males and females in equal numbers. It can begin during childhood or adulthood. Childhood-onset disease most commonly presents within the first year of life.

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Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of mastocytosis. Comparison may be useful for a differential diagnosis:

Inflammatory bowel disease (IBD) is associated with an abnormal immune response to natural bacteria in the gastrointestinal tract. Patients may experience weight loss, abdominal cramping and pain, nausea and vomiting, fatigue and irregular bowel movements. Diagnosis of IBD is often based on symptoms which can include increased heart rate (tachycardia), decreased red blood cell count (anemia) leading to fatigue, dehydration and fever. There are various tests and imaging studies that can be done to confirm a diagnosis and can include: complete blood count, serologic testing, stool studies, nutritional evaluation, colonoscopy, abdominal ultrasound and other gastrointestinal imaging studies.

Irritable bowel syndrome (IBS) is a gastrointestinal disorder associated with abdominal discomfort, altered bowel patterns and, in some people, inflammation of the gastrointestinal tract. Patients with IBS may experience heartburn, nausea and vomiting, presence of clear or white mucus, abdominal pain, as well as presence of constipation or diarrhea. Patients may also experience abdominal distention, which can be confirmed on an abdominal CT scan. Specific criteria on diagnosis IBS exists based on the frequency and duration of patient’s symptoms. Criteria for IBS diagnosis requires that patients have had recurrent abdominal pain or discomfort at least 1 day per week during the past three months associated with two or more of the following: related to defecation; associated with change in stool frequency; and/or associated with change in stool form or appearance. To establish a diagnosis of IBS, a physical exam and laboratory and radiographic studies may be performed to rule out any other causes.

Malabsorption is inclusive of any condition associated with abnormalities occurring during digestion and/or absorption of food nutrients. Patients may experience diarrhea and weight loss; however, more characteristic symptoms are often based on the specific cause. Various tests can be performed to identify the cause and can include blood tests, electrolytes and chemistry panel and serologic testing. However, no specific test exists for malabsorption. Treatment for malabsorption consists of correcting any nutritional deficiencies as well as treating the causative condition.

Myeloproliferative diseases are a group of disorders associated with proliferation of one or more distinct cell lines. Patients can experience fatigue, weight loss, abdominal discomfort, easy bruising or bleeding, infections as well as other symptoms. A specific diagnosis can be based on laboratory studies (i.e. complete blood counts, leukocyte alkaline phosphatase score, polymerase chain reaction assay, serum uric acid level, red blood cell mass) and bone marrow biopsies, which would reflect a change in blood cell counts. Management of the myeloproliferative disease depends on the specific cause. Chronic eosinophilic leukemia is characterized by increased eosinophils carrying genetic alterations in blood and bone marrow and is often associated with increased mast cells.

Urticaria is a condition of the skin associated with red, elevated patches of the skin that can be itchy and irritating to touch and more commonly referred to as hives. Urticaria is often an isolated event not associated with other systemic symptoms or findings. Often, urticaria is self-limiting and of short duration. Skin lesions can last for 20 minutes up to three hours disappear and then reappear within a 24–48-hour period. New onset urticaria is often associated with an identifiable cause such as direct contact and can be identified from the patient’s history. Urticaria may be confused with other dermatologic conditions. However, based on the characteristic appearance of urticaria (i.e. transient itchy red raised skin lesions) a diagnosis can be made. The first step in treatment of urticaria often includes antihistamine agents.

Endocine tumors such as carcinoid, pheocromocytoma and medullary thyroid cancer can cause flushing. Postmenapausal flushing is usually brief and is associated with sweating.

Monoclonal mast cell activation syndrome, where there are symptoms of mast cell activation including recurrent anaphylaxis but no evidence of cutaneous mastocytosis. The bone marrow biopsy shows 1 or 2 minor criteria for systemic mastocytosis (such as D816V KIT variant or CD25 expressing mast cells but does not fulfill the complete World Health Organization (WHO) criteria (See diagnosis section below).

Idiopathic mast cell activation syndrome and idiopathic anaphylaxis, where the affected people have episodic symptoms of systemic mast cell activation or anaphylaxis associated with elevated mast cell mediators such as tryptase and urinary histamine or prostaglandin metabolites, respond favorably to treatment with mast cell mediator blocking drugs and have no diagnostic findings of cutaneous or systemic mastocytosis. Other disorders with similar symptoms such as allergic diseases should be ruled out before this diagnosis is considered.

Hereditary alpha tryptasemia (H∝T), where individuals with H∝T usually have baseline serum tryptase levels >8 ng/ml. It is transmitted in an autosomal dominant pattern. Most individuals with H∝T have no symptoms directly related to this trait. It is thought that presence of H∝T may make the symptoms of concurrent allergic disease make more severe (such as bee sting allergies or anaphylaxis).

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Diagnosis

Other disorders associated with mast cell activation cannot be clinically distinguished from mastocytosis and diagnostic testing for mastocytosis should be performed. In cutaneous mastocytosis, a diagnosis can be made based on the appearance of the skin and can be confirmed by a skin biopsy revealing high numbers of mast cells. Diagnosis of systemic mastocytosis should be established by a bone marrow biopsy, which would reveal an abnormally high number of mast cells with abnormal appearance.

Tryptase is a protease associated with mast cells. Measurable serum tryptase is made up of alpha and beta tryptases and the median serum tryptase level is approximately 5 ng/ml. Alpha tryptase is a protryptase that is secreted constitutively by mast cells and its serum levels correlate with mast cell numbers and is often found elevated in systemic mastocytosis. A baseline serum tryptase level of greater than 20 ng/ml is a minor diagnostic criterion for systemic mastocytosis. Beta tryptase is stored in mast cell granules and is detectable in circulation after anaphylaxis usually returns to baseline after 4 hours.

The World Health Organization (WHO) has established criteria for diagnosing systemic mastocytosis which has been summarized by The Mast Cell Disease Society here:
https://tmsforacure.org/patients/mastocytosis_explained_2.php

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Standard Therapies

Treatment

There is currently no cure for mastocytosis, but treatments focus on controlling symptoms and preventing severe allergic reactions (anaphylaxis). The main symptoms are caused by the release of chemicals from the mast cells, leading to:

• Skin rashes
• Stomach issues like pain, nausea, or diarrhea
• Allergic reactions, including life-threatening anaphylaxis

The following treatments help manage these symptoms:

• Antihistamines (H1 and H2 blockers): These are crucial for relieving symptoms like itching, stomach issues, and flushing.
• Cromolyn sodium: Helps with gastrointestinal problems
• Mast-cell stabilizers (ketotifen): These reduce the activity of mast cells.
• Leukotriene antagonists: Used to improve symptoms in some patients
• Proton-pump inhibitors: Helpful for treating stomach acid issues
• Glucocorticoids: Used in more severe cases when other treatments don’t work

For patients with systemic mastocytosis, it’s vital to always carry self-injectable epinephrine in case of severe allergic reactions.

New and Advanced Treatments

In recent years, there have been significant developments in targeted therapies, especially for advanced SM, which can improve outcomes and survival. Here’s an overview of some key drugs and treatments:

• Avapritinib (Ayvakit): A powerful drug targeting the KIT D816V variant (a common genetic variant in SM). It was approved by the FDA in 2021 for both non-advanced and advanced SM. It helps control symptoms and may improve survival, especially in aggressive cases.
• Midostaurin (Rydapt): Another KIT inhibitor that is effective for patients with advanced forms of SM, including aggressive SM and mast cell leukemia. It’s also FDA-approved and is often used when symptoms are severe.
• Cladribine: Used off-label for treating various forms of SM, this drug helps reduce the number of abnormal mast cells and is often used for quick disease control.
• Peginterferon Alfa-2a (± prednisone): This medication can reduce mast cell activity and improve symptoms in advanced cases, although it takes longer to show results.
• Imatinib: Typically used when patients do not have the KIT D816V variant. It can be very effective in specific genetic cases.

In affected people with very advanced disease, stem cell transplants may be considered, but they are usually reserved for those who don’t respond well to other treatments.

With the introduction of new drugs like avapritinib, the treatment landscape for SM is improving. These targeted therapies offer hope for deeper and longer remissions, especially in people affected with advanced forms of the disease. However, it’s important to monitor patients closely for potential side effects and to explore additional treatments for those who don’t get better with current medications.

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Clinical Trials and Studies

Research is ongoing, with newer drugs such as bezulastinib and elenestinib showing promise in clinical trials.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com.

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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Resources

RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease.  For more information, visit www.rareconnect.org.

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References

JOURNAL ARTICLES
Gotlib J, Gerds AT, Abdelmessieh P, et al. NCCN Guidelines® Insights: Systemic Mastocytosis, Version 3.2024. J Natl Compr Canc Netw. 2024;22(2D):e240030. doi:10.6004/jnccn.2024.0030

Joergensen MPP, Oevilesen AK, Jakobsen LJ, et al. Incidence and prevalence of mastocytosis in adults: A Danish nationwide register study. 142(1). 2: 6339.  November 2023. https://www.sciencedirect.com/science/article/abs/pii/S0006497123129363

Lee HJ. Recent advances in diagnosis and therapy in systemic mastocytosis. Blood Res. 2023 Apr 30;58(S1):96-108. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133845/

Vachhani P & Bose P. Current and emergent therapies for systemic mastocytosis Targeted Oncology. September 7, 2023. https://www.targetedonc.com/view/current-and-emergent-therapies-for-systemic-mastocytosis

Jendoubi F, Gaudenzio N, Gallini A, Negretto M, Paul C, Bulai Livideanu C. Omalizumab in the treatment of adult patients with mastocytosis: A systematic review. Clin Exp Allergy. 2020 Jun;50(6):654-661. doi: 10.1111/cea.13592. Epub 2020 Mar 25. PMID: 32107810.

Bista A, Uprety D, Vallatharasu Y, et al. Systemic mastocytosis in United States: A population based study. Blood 132(1):1830. 29 November 2018. https://www.sciencedirect.com/science/article/pii/S0006497119378796

Gotlib J, Kluin-Nelemans HC, George TI, Akin C, et al. Efficacy and safety of Midostaurin in advanced systemicmMastocytosis. N Engl J Med. 2016 Jun 30;374(26):2530-41. doi: 10.1056/NEJMoa1513098. PMID: 27355533.

Hartmann K, Escribano L, Grattan C, et al. Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. J Allergy Clin Immunol. 2016 Jan;137(1):35-45. doi: 10.1016/j.jaci.2015.08.034. Epub 2015 Oct 21. PMID: 26476479.

Theoharides TC, Valent P, Akin C. Mast Cells, Mastocytosis, and related disorders. N Engl J Med. 2015 Jul 9;373(2):163-72.

Niedoszytko M, Bonadonna P, Oude Elberink JN, Golden DB. Epidemiology, diagnosis, and treatment of Hymenoptera venom allergy in mastocytosis patients. Immunol Allergy Clin North Am. 2014 May;34(2):365-81. doi: 10.1016/j.iac.2014.02.004. Epub 2014 Mar 15. PMID: 24745680.

Cardet JC, Akin C, Lee MJ. Mastocytosis: update on pharmacotherapy and futuredirections. Expert Opin Pharmacother. 2013 Oct;14(15):2033-45. doi:10.1517/14656566.2013.824424. PubMed PMID: 24044484.

Fried AJ, Akin C. Primary mast cell disorders in children. Curr Allergy Asthma Rep. 2013 Dec;13(6):693-701. doi: 10.1007/s11882-013-0392-6. Review. PubMed PMID: 24150753.

Lange M, Nedoszytko B, Gorska A, Zawrocki A, Sobjanek M, Kozlowski D. Mastocytosis in children and adults: clinical disease heterogeneity. Arch Med Sci.Jul 4 2012;8(3):533-541.

Valent P, Akin C, Arock M, et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2012;157(3):215-25. doi: 10.1159/000328760. Epub 2011 Oct 27. PubMed PMID: 22041891; PubMed Central PMCID: PMC3224511.

Castells M, Metcalfe DD, Escribano L. Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations. Am J Clin Dermatol. 2011 Aug 1;12(4):259-70. doi: 10.2165/11588890-000000000-00000. Review. PubMed PMID:21668033.

Valent P, Sperr WR, Akin C. How I treat patients with advanced systemic mastocytosis. Blood. 2010 Dec 23;116(26):5812-7. doi: 10.1182/blood-2010-08-292144. Epub 2010 Sep 20. PubMed PMID: 20855864.

Metcalfe DD. Mast cells and mastocytosis. Blood. 2008 Aug 15;112(4):946-56.doi: 10.1182/blood-2007-11-078097. Review. PubMed PMID: 18684881; PubMed Central PMCID: PMC2515131.

Valent P, Akin C, Escribano L, et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest. 2007 Jun;37(6):435-53. Review. PubMed PMID: 17537151.

Tharp MD, Longley BJ Jr. Mastocytosis. Dermatol Clin. 2001;19:679-96, viii-ix.

Valent P, Horny HP, Escribano L, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25:603-25.

Marone G, Spadaro G, Granata F, et al. Treatment of mastocytosis: pharmacologic basis and current concepts. Leuk Res. 2001;25:583-94.

Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res. 2001;25:571-76.

Austen KF, Boyce JA. Mast cell lineage development and phenotypic regulation. Leuk Res. 2001;25:511-18.

Hartmann K, Henz BM. Mastocytosis: recent advances in defining the disease. Br J Dermatol. 2001;144:682-95.

Valent P, Schernthaner GH, Sperr WR, et al. Variable expression of activation-linked surface antigens on human mast cells in health and disease. Immunol Rev. 2001;179:74-84.

Hartmann K, Metcalfe DD. Pediatric mastocytosis. Hematol Oncol Clin North Am. 2000;14:579-623, vii.

Parker RI. Hematologic aspects of systemic mastocytosis. Hematol Oncol Clin North Am. 2000;14:557-68.

INTERNET
Castells MC and Akin C. Mastocytosis (cutaneous and systemic): Epidemiology, pathogenesis, and clinical manifestations. Updated: July 11, 2024. Available at https://www.uptodate.com/contents/mastocytosis-cutaneous-and-systemic-in-adults-epidemiology-pathogenesis-clinical-manifestations-and-diagnosis  Accessed Sept 12, 2024.

Jaishankar D and Manthri S. Systemic Mastocytosis. Medscape. Last Update:March 4, 2024. Available at: https://emedicine.medscape.com/article/203948-overview Accessed Sept 12, 2024.

Mastocytosis, Cutaneous. McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 154800; Last Update: 06/06/2019. Available at https://omim.org/entry/154800 Accessed Sept 12, 2024.

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NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

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Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

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Patient Organizations

The Mast Cell Disease Society, Inc.

NORD Member

Email: [email protected]

Related Rare Diseases: Mastocytosis

https://rarediseases.org/organizations/the-mast-cell-disease-society-inc/

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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Phone: 301-495-4484 Email: [email protected] Fax: 301-718-6366

Related Rare Diseases: Chanarin-Dorfman Syndrome, Congenital Myasthenic Syndromes, Arterial Tortuosity Syndrome, ...

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Cancer.Net

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Related Rare Diseases: Perivascular Epithelioid Cell Neoplasm, Acute Promyelocytic Leukemia, Primary Central Nervous System Lymphoma, ...

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Mastokids

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Related Rare Diseases: Mastocytosis

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The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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