title: Aggressive systemic mastocytosis complicated by protein-losing enteropathy.
abstract: A 46-year-old woman was admitted to the hospital with complaints of chronic diarrhoea, vomiting and severe muscle weakness. Clinical examination showed a lethargic, malnourished, dehydrated patient with ascites and bilateral leg oedema. Laboratory evaluation revealed mild normochromic normocytic anaemia and severe hypoproteinaemia with hypoalbuminaemia. Upper gastrointestinal endoscopy showed a thickened, friable duodenal mucosa with multiple erosions. Colonoscopy revealed nodular, pseudopolypoid lesions with patchy erosions in the left hemicolon. Haematoxylin-eosin stained sections from biopsies of endoscopically abnormal bowel segments showed multi-focal aggregates of large, histiocyte-like cells with abundant pale cytoplasm in the lamina propria. These cells were negative on PAS, Ziehl-Neelsen, Giemsa and toluidine blue stains. Their immunophenotype was CD68 (+), c-kit/CD117 (+) and mast cell tryptase (+), which is consistent with mast cells. A trephine biopsy showed diffuse replacement of the bone marrow by atypical, monomorphic, frequently spindle-shaped mast cells. No associated haematopoietic malignancy was detected. The final diagnosis was aggressive systemic mastocytosis with involvement of the gastrointestinal tract complicated by protein-losing enteropathy. This association has not been reported previously. The patient has been treated with prednisolone and interferon-alpha and has since recovered.
authors.affiliation: National Center of Pathology, P. Baublio 5, LT-08406 Vilnius, Lithuania.
authors.forename: U
authors.initials: U
authors.lastname: Mickys
authors.forename: A
authors.initials: A
authors.lastname: Barakauskiene
authors.forename: C
authors.initials: C
authors.lastname: De Wolf-Peeters
authors.forename: K
authors.initials: K
authors.lastname: Geboes
authors.forename: G
authors.initials: G
authors.lastname: De Hertogh
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D003113:Colonoscopy; D005260:Female; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D016898:Interferon-alpha; D034721:Mastocytosis, Systemic / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D008875:Middle Aged; D011239:Prednisolone / Q000627:therapeutic use; D011504:Protein-Losing Enteropathies / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology
chemical_list: D000893:Anti-Inflammatory Agents; D007155:Immunologic Factors; D016898:Interferon-alpha; D011239:Prednisolone