FAMILIAL AUTOIMMUNE ENTEROPATHY WITH CIRCULATING ANTI-BULLOUS PEMPHIGOID ANTIBODIES AND CHRONIC AUTOIMMUNE HEPATITIS

In a family of four children (two boys and two girls), the two brother s had severe, protracted watery diarrhea beginning at 2 and 3 weeks of life, respectively. Duodenal mucosa in both patients showed total vil lous atrophy and severe inflammatory infiltration of the entire bowel. The first patient also had lymphoid cell infiltration of the pancreas and died at 6 weeks of age. The second boy is alive at 2 years of age and is immunocompetent, but still receives total parenteral nutrition , Indirect immunofluorescence studies revealed circulating antibodies to enterocytes, smooth muscle, thyroid, and islet cells. Bullous pemph igoid antibodies (230 and 180 kd), specific for hemidesmosomal protein s and usually associated with a subepidermal blistering skin disease, were detected by direct and indirect immunofluorescence studies and by Western immunoblot, A diagnosis of autoimmune hepatitis was made, bas ed on evidence of chronic active hepatitis and circulating anti-smooth muscle antibody, Immunosuppressive treatments induced partial clinica l remission of the diarrhea but no resolution of the small bowel injur y, At 16 months of age, remission of the diarrhea occurred, but persis tent autoimmune hepatitis led us to maintain treatment with prednisone and azathioprine, and later with cyclosporine, In this child, as in o ther patients with autoimmune disease, the link between autoantibodies and organ damage remains uncertain but immunosuppressive treatment is indicated,