IgA heavy chain disease. A case detected in the western hemisphere.
IgA heavy chain disease (alpha chain disease) was detected in a 46 year old South American (Colombian) of mixed Spanish and Indian (Mestizo) descent. The clinical course was characterized by severe malabsorption, initially thought to be a variant of tropical sprue. Jejunal mucosal biopsy revealed marked villous atrophy with heavy infiltration of the lamina propria by a single monotonous cell type which, by light microscopy, had the appearance of either a large, abnormal plasma cell or a small histiocyte. Electron microscopy of the biopsy specimen demonstrated the presence of abnormal plasma cells, lymphatic distention and abnormalities of surface epithelial cells. At autopsy a 6 by 3 cm mass was found in the right para-aortic area along with many firm 2 cm mesenteric and para-aortic lymph nodes. Histologic examination revealed the presence of a monotonous cell type similar to that found in the jejunal mucosal biopsy specimen.
D000005:Abdomen; D000008:Abdominal Neoplasms / Q000150:complications; D001344:Autopsy; D001706:Biopsy; D001797:Blood Protein Electrophoresis; D003105:Colombia; D004106:Dilatation; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D004847:Epithelial Cells; D004848:Epithelium / Q000473:pathology; D006362:Heavy Chain Disease / Q000276:immunology / Q000473:pathology*; D006801:Humans; D007122:Immunoelectrophoresis; D007070:Immunoglobulin A; D007199:Indians, South American; D007413:Intestinal Mucosa / Q000473:pathology; D007421:Intestine, Small / Q000000981:diagnostic imaging; D007583:Jejunum / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010950:Plasma Cells / Q000473:pathology; D011859:Radiography; D013030:Spain / Q000208:ethnology
D007070:Immunoglobulin A