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Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Published on: June 19, 2025
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Systemic mastocytosis: variable manifestations can lead to a challenging diagnostic process
Susanna Nallamilli1, Aideen O'Neill1, Andrew Wilson1
1Haematology, University College London Hospitals NHS Foundation Trust, London, UK.
BMJ Case Reports
|September 1, 2019
Summary
Systemic mastocytosis, a disorder of abnormal mast cell proliferation, presents with diverse symptoms. Diagnosis requires multi-specialty investigation, but treatment with antihistamines and leukotriene antagonists can significantly improve patient quality of life.
Area of Science:
- Hematology
- Immunology
- Gastroenterology
Background:
- Systemic mastocytosis (SM) is a rare clonal myeloid neoplasm characterized by the abnormal proliferation and activation of mast cells.
- The heterogeneity of SM leads to a wide spectrum of clinical presentations, complicating diagnosis and management.
Observation:
- A case is presented of a woman with a history of anaphylaxis, rash, and diarrhea.
- Her symptoms were investigated across multiple specialties over an extended period, highlighting diagnostic challenges.
Findings:
- Morphological, immunohistochemical, and molecular analyses of bone marrow confirmed systemic mastocytosis.
- Treatment with leukotriene and histamine antagonists led to substantial symptom relief and improved quality of life.
Implications:
- This case underscores the protean manifestations of systemic mastocytosis, emphasizing the need for a high index of suspicion.
- It highlights the utility of integrated diagnostic approaches and targeted therapies in managing this complex disorder.
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