Systemic mastocytosis
Dernière mise à jour 18 Aug 2020
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Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.
Description
Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.
Signs and symptoms of systemic mastocytosis often include extreme tiredness (fatigue), skin redness and warmth (flushing), nausea, abdominal pain, bloating, diarrhea, the backflow of stomach acids into the esophagus (gastroesophageal reflux), nasal congestion, shortness of breath, low blood pressure (hypotension), lightheadedness, and headache. Some affected individuals have attention or memory problems, anxiety, or depression. Many individuals with systemic mastocytosis develop a skin condition called urticaria pigmentosa, which is characterised by raised patches of brownish skin that sting or itch with contact or changes in temperature. Nearly half of individuals with systemic mastocytosis will experience severe allergic reactions (anaphylaxis).
There are five subtypes of systemic mastocytosis, which are differentiated by their severity and the signs and symptoms. The mildest forms of systemic mastocytosis are the indolent and smoldering types. Individuals with these types tend to have only the general signs and symptoms of systemic mastocytosis described above. Individuals with smoldering mastocytosis may have more organs affected and more severe features than those with indolent mastocytosis. The indolent type is the most common type of 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.
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Other names
Mast cell disease, systemic
Mastocytosis, systemic
Systemic mast cell disease
Systemic mast-cell disease
Systemic mastocytoses
Systemic tissue mast cell disease
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Lectures complémentaires et références
- Systemic mastocytosis; MedlinePlus, National Library of Medicine.
- Akin C, Valent P. Diagnostic criteria and classification of mastocytosis in 2014. Immunol Allergy Clin North Am. 2014 May;34(2):207-18. doi: 10.1016/j.iac.2014.02.003.
- Bonadonna P, Pagani M, Aberer W, Bilo MB, Brockow K, Oude Elberink H, Garvey L, Mosbech H, Romano A, Zanotti R, Torres MJ. Drug hypersensitivity in clonal mast cell disorders: ENDA/EAACI position paper. Allergy. 2015 Jul;70(7):755-63. doi: 10.1111/all.12617. Epub 2015 Apr 24.
- Castells MC. Mastocytosis: Moving the Field to Precision and Personalized Medicine. Immunol Allergy Clin North Am. 2018 Aug;38(3):xv-xvii. doi: 10.1016/j.iac.2018.05.001. Epub 2018 Jun 9. No abstract available.
- Scherber RM, Borate U. How we diagnose and treat systemic mastocytosis in adults. Br J Haematol. 2018 Jan;180(1):11-23. doi: 10.1111/bjh.14967. Epub 2017 Oct 19.
- Tremblay D, Carreau N, Kremyanskaya M, Mascarenhas J. Systemic Mastocytosis: Clinical Update and Future Directions. Clin Lymphoma Myeloma Leuk. 2015 Dec;15(12):728-38. doi: 10.1016/j.clml.2015.07.644. Epub 2015 Aug 5.
- Valent P, Aberer E, Beham-Schmid C, Fellinger C, Fuchs W, Gleixner KV, Greul R, Hadzijusufovic E, Hoermann G, Sperr WR, Wimazal F, Wohrl S, Zahel B, Pehamberger H. Guidelines and diagnostic algorithm for patients with suspected systemic mastocytosis: a proposal of the Austrian competence network (AUCNM). Am J Blood Res. 2013 May 5;3(2):174-80. Print 2013.
- Valent P, Akin C, Metcalfe DD. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood. 2017 Mar 16;129(11):1420-1427. doi: 10.1182/blood-2016-09-731893. Epub 2016 Dec 28.
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