Diseases
mastocytosis
For healthcare professionals — reference only. This page is a brief summary, not medical advice and not a substitute for official labeling or clinical judgement. Always verify before prescribing or dispensing.
Overview
Mastocytosis is a rare condition caused by an excess number of mast cells gathering in the body's tissues. There are 2 main types of mastocytosis: cutaneous mastocytosis, which mainly affects children – where mast cells gather in the skin, but are not found in large numbers elsewhere in the body.
Symptoms
- flushing, itching or hives
- abdominal pain, diarrhea, nausea or vomiting
- anemia or bleeding disorders
- bone and muscle pain
- enlarged liver, spleen or lymph nodes
Causes
- most cases of systemic mastocytosis are caused by a random change (mutation) in the kit gene. typically this flaw in the kit gene is not inherited.
Risk factors
- age. most often, mastocytosis begins during infancy and early childhood
Diagnosis
- blood or urine tests
- skin biopsy
- bone marrow biopsy
- imaging tests such as an x-ray, ultrasound, bone scan and ct scan
Medicines used
Frequently asked questions
What is mastocytosis?
Mastocytosis is a rare condition caused by an excess number of mast cells gathering in the body's tissues. There are 2 main types of mastocytosis: cutaneous mastocytosis, which mainly affects children – where mast cells gather in the skin, but are not found in large numbers elsewhere in the body.
What are the symptoms of mastocytosis?
flushing, itching or hives, abdominal pain, diarrhea, nausea or vomiting, anemia or bleeding disorders, bone and muscle pain, enlarged liver, spleen or lymph nodes
What causes mastocytosis?
most cases of systemic mastocytosis are caused by a random change (mutation) in the kit gene. typically this flaw in the kit gene is not inherited.
Which medicines are used for mastocytosis?
imatinib
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