Systemic mastocytosis
Last updated 18 Aug 2020
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
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
Related patient information and medicines
Patient information leaflet
Mastocytosis and mast cell disorders
A mast cell is a type of white blood cell. Mast cells are a type of white blood cell - together, our white blood cells play a major role in our immune system, helping us fight off infection and... Systemic mastocytosis This can cause a whole range of symptoms depending on the parts of the body where large numbers of mast cells are found. Adults.
Patient information leaflet
Pericarditis
Pericarditis is inflammation of the pericardium, which is the sac which surrounds and helps to protect the heart. Pericarditis typically causes chest pain as its main symptom. For example, pericarditis can develop following a stab wound or... Inflammatory diseases which can affect various parts of the body may include inflammation of the.
Patient information leaflet
Joint pain
This leaflet summarises the most common causes of joint pain, and discusses when you should. There are links to many of the specific conditions which cause joint pain. Connective tissue diseases For example, conditions such as systemic lupus erythematosus and scleroderma: connective tissue diseases affect tissues throughout the body, including.
Patient information leaflet
Chilblains
Chilblains are small, itchy, painful lumps that develop on the skin as an abnormal response to cold. What are chilblains. However, some factors may make some people more prone to chilblains, such as: Having poor circulation or other problems of your blood vessels. In particular, people who have a connective tissue disease such as systemic lupus.
Patient information leaflet
Eye problems
See the separate leaflets called Allergic conjunctivitis and Infective conjunctivitis for more details. Sjögren's syndrome Sjögren's syndrome is an autoimmune disease which most commonly causes dry eyes and mouth. It can also affect othe... These include: Rheumatoid arthritis - may cause episcleritis, scleritis and dry eyes. Systemic lupus.
Patient information leaflet
Skin rashes
There are many different types of skin rashes and many different causes of skin rashes. Although most skin rashes are harmless, some do need treatment (which may be tablets, creams or ointments) from your doctor or pharmacist. Some rashes ( especially dark red or purple rashes that don't fade when you press them ) may even need urgent medical.
Further reading and references
- 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.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.