Condition Lookup
Category:
Mast Cell Disorders
Number of Conditions: 1
Systemic Mastocytosis
Specialty: Hematology
Category: Mast Cell Disorders
Symptoms:
flushing; abdominal pain; diarrhea; anaphylaxis; bone pain; itching; skin lesions
Root Cause:
Abnormal proliferation and accumulation of mast cells in multiple organs, often driven by mutations like KIT D816V.
How it's Diagnosed: videos
Bone marrow biopsy, KIT mutation analysis, serum tryptase levels, and clinical presentation.
Treatment:
Symptom management (antihistamines, mast cell stabilizers), cytoreductive therapy for advanced cases.
Medications:
H1 and H2 antihistamines (e.g., loratadine , ranitidine), leukotriene inhibitors (e.g., montelukast ), and tyrosine kinase inhibitors (e.g., midostaurin for advanced cases).
Prevalence:
How common the health condition is within a specific population.
Rare; incidence estimated at 1 in 10,000–20,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations (e.g., KIT D816V), familial mastocytosis.
Prognosis:
The expected outcome or course of the condition over time.
Variable; indolent forms have a good prognosis, while aggressive forms may have significant morbidity and mortality.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Organ dysfunction, osteoporosis, anaphylaxis, and increased risk of secondary malignancies.