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Systemic Mastocytosis Causing Refractory Pruritus in a Liver Disease Patient
Naga S Addepally1, Jagpal S Klair1, Mohit Girotra2
1Department of Internal Medicine, University of Arkansas for Medical Sciences, Little Rock, AR.
ACG Case Reports Journal
|December 7, 2016
Summary
Systemic mastocytosis (SM) caused intractable itching in a young woman. Diagnosis was delayed due to coexisting primary sclerosing cholangitis, highlighting the need for broader differential diagnoses in complex cases.
Area of Science:
- Hematology
- Oncology
- Dermatology
Background:
- Systemic mastocytosis (SM) involves abnormal mast cell proliferation, leading to symptoms like itching and anaphylaxis due to histamine release.
- SM can present with diverse symptoms and may coexist with other conditions, complicating diagnosis and management.
- Refractory pruritus is a common but often non-specific symptom that can be challenging to diagnose.
Observation:
- A 23-year-old woman presented with severe, persistent itching unresponsive to standard treatments for primary sclerosing cholangitis.
- Bone scan revealed increased uptake in the proximal femur, prompting further investigation.
- Bone marrow biopsy confirmed the presence of indolent systemic mastocytosis.
Findings:
- The patient's intractable pruritus was ultimately attributed to indolent systemic mastocytosis, not primary sclerosing cholangitis.
- Early diagnosis of SM was hindered by its co-occurrence with another systemic disease and its varied clinical presentation.
- Bone scintigraphy can reveal bone involvement in SM, aiding in diagnosis.
Implications:
- This case underscores the importance of considering systemic mastocytosis in patients with unexplained refractory pruritus, even with coexisting conditions.
- Diagnostic delays for SM can lead to prolonged patient suffering and potentially missed opportunities for timely intervention.
- Integrated diagnostic approaches combining imaging and histopathology are crucial for accurate SM diagnosis.
