Jejunal biopsy shows club-shaped jejunal villi broadened by edema and histiocytes with imbibed fluid with normal overlying intestinal epithelium and brush border
In a large Mennonite kindred in Alberta, Canada, Smith et al. (1994) described a seemingly 'new' familial enteropathy manifested by recurrent acute, life-threatening secretory diarrhea associated with distinctive jejunal histologic changes and IgG2 subclass deficiency. Symptoms began abruptly ... In a large Mennonite kindred in Alberta, Canada, Smith et al. (1994) described a seemingly 'new' familial enteropathy manifested by recurrent acute, life-threatening secretory diarrhea associated with distinctive jejunal histologic changes and IgG2 subclass deficiency. Symptoms began abruptly with anorexia and vomiting, and progressed within hours to massive secretory diarrhea and shock with profound neutropenia and hypoproteinemia, including hypoalbuminemia and hypogammaglobulinemia. Affected survivors recovered quickly and thereafter grew and developed normally. Biopsy specimens obtained during remission from 3 adults and 11 children showed club-shaped jejunal villi broadened by edema and histiocytes with imbibed fluid; the overlying intestinal epithelium and brush border appeared normal, but the basement membrane was interrupted in some areas. No characteristic microorganisms had been identified in association with the syndrome. Clinical manifestations ceased in the second decade, but the abnormal jejunal histologic pattern persisted into adult life. Female and male patients were equally affected, although all fatal cases had been in female subjects. Affected individuals had a reduced serum concentration of IgG2. The pedigree published by Smith et al. (1994) showed 31 affected members. Four sibships were affected in the first of the 2 generations and 8 sibships in the second.