Aggressive systemic mastocytosis presenting with hepatic cholestasis
Sonia S Kupfer1, John Hart, Smruti R Mohanty
1Center for Liver Diseases, University of Chicago, Illinois 60637-1463, USA.
European Journal of Gastroenterology & Hepatology
|September 18, 2007
Summary
Systemic mastocytosis, a rare condition causing mast cell accumulation, can present as cholestatic liver disease. This case highlights the need to consider rare diagnoses in liver disorders.
Area of Science:
- Hematology
- Gastroenterology
- Oncology
Background:
- Systemic mastocytosis (SM) is characterized by aberrant mast cell proliferation and infiltration into various organs.
- Cholestatic liver disease presents with impaired bile flow, leading to jaundice and abnormal liver tests.
Observation:
- A 60-year-old woman presented with symptoms including diarrhea, weight loss, and hepatosplenomegaly.
- Initial investigations revealed a cholestatic pattern in liver chemistry tests.
Findings:
- Liver biopsy demonstrated significant mast cell infiltration, confirmed by mast-cell tryptase and CD117 staining.
- Bone marrow and small bowel biopsies further supported systemic mastocytosis diagnosis.
- The patient showed no response to imatinib mesylate and her disease progressed to acute myeloid leukemia.
Implications:
- This case emphasizes the importance of considering systemic mastocytosis in the differential diagnosis of unexplained cholestatic liver disease.
- Early recognition and diagnosis of SM are crucial for appropriate management and potentially improving patient outcomes.
- The transformation to acute myeloid leukemia highlights the aggressive nature of advanced systemic mastocytosis.
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