Rapidly progressive ascites is a frequent clinical manifestation of advanced abdominal malignancies or portal hypertension due to liver diseases. We report a case of 61-year-old man who presented with rapidly progressive ascites. The presence of ascites, generalised lymphadenopathy, osteosclerosis on imaging and hepatosplenomegaly initially pointed towards the diagnosis of advanced high-grade lymphoma or accelerated myeloid neoplasm. Lymph node biopsy revealed infiltration by CD45, cKIT and CD30; tryptase and toluidine blue-positive mast cells (MCs). Bone marrow examination revealed infiltration by MCs and next generation sequencing revealed the pathognomic exon 17 D 816V KIT mutation. The patient was started on weekly pegylated interferon with significant symptom relief. Systemic mastocytosis should be considered as a differential diagnosis in a clinical case of ascites of unknown aetiology even in the absence of typical skin manifestations.
- liver disease
- portal hypertension
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Contributors AJ and VAA drafted the manuscript and were involved in management of the case. AB reviewed the biopsy. DS contributed to the patient management.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.