Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P15088 (mast cell)
 14,925 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A middle-aged woman presented with fatigue and mild increases in hematocrit and red cell mass. Polycythemia vera was diagnosed. She underwent therapeutic phlebotomy but clinically worsened. On reevaluation, other problems were noted including episodic malaise, nausea, rash and vasomotor issues. The JAK2V617F mutation was absent; paraneoplastic erythrocytosis was investigated. Serum tryptase and urinary N-methylhistamine were normal, but urinary prostaglandin D2 was elevated. Skin and marrow biopsies showed no mast cell abnormalities. Extensive other evaluation was negative. Gastrointestinal tract biopsies were histologically normal but revealed increased, aberrant mast cells on immunohistochemistry; the KITD816V mutation was absent. Mast cell activation syndrome, recently identified as a clonal disorder involving assorted KIT mutations, was diagnosed. Imatinib 200 mg/d rapidly effected complete, sustained response. Diagnosis of mast cell activation syndrome is hindered by multiple factors, but existing therapies for mast cell disease are usually achieve significant benefit, highlighting the importance of early diagnosis. Multiple important aspects of clinical reasoning are illustrated by the case.
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PMID:Polycythemia from mast cell activation syndrome: lessons learned. 2164 12