FAMILIAL ENTEROPATHY WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 SUBCLASS DEFICIENCY

We describe a familial form of recurrent acute, life-threatening secre tory diarrhea associated with distinctive jejunal histologic changes a nd IgG2 subclass deficiency. Symptoms begin abruptly with anorexia and vomiting, and progress within hours to massive secretory diarrhea and shock with profound neutropenia and hypoproteinemia, including hypoal buminemia and hypogammaglobulinemia. Affected survivors recover quickl y and thereafter grow and develop normally. Biopsy specimens obtained during remission from 3 adults and 11 children show club-shaped jejuna l villi broadened by edema and histiocytes with imbibed fluid; the ove rlying intestinal epithelium and brush border appear normal, but the b asement membrane is interrupted in some areas. No characteristic micro organisms have been identified in association with the syndrome. Clini cal manifestations cease in the second decade, but the abnormal jejuna l histologic pattern persists into adult life. Female and male patient s are equally affected, although all fatal cases have been in female s ubjects. Inheritance appears dominant with variable penetrance: one fa mily member without a history of diarrhea has characteristic biopsy fi ndings and another appears to be an obligate carrier with normal biops y findings. Affected individuals have a reduced serum concentration of IgG2. We believe that this familial enteropathy is a unique entity, n ot previously described.