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Start free with EleplanAggressive systemic mastocytosis
ORPHA:98850Disease
What it is
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Adult, Antenatal, Elderly, Neonatal
- Inheritance
- Not applicable
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
21- Abdominal cramps
- Abdominal pain
- Anaphylactic shock
- Anorexia
- Arthralgia
- Bone pain
- Constitutional symptom
- Diarrhea
- Elevated circulating alkaline phosphatase concentration
- Fatigue
- Flushing
- Hepatosplenomegaly
- Hypotension
- Increased proportion of CD25+ mast cells
- Increased serum mast cell beta-tryptase concentration
- Increased total leukocyte count
- Lymphadenopathy
- Malabsorption
- Osteoporosis
- Pruritus
- Weight loss
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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