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Autoantibodies against Aromatic L-Amino Acid Decarboxylase in Autoimmune Polyendocrine Syndrome Type I¹

Departments of Internal Medicine (E.S.H., G.G.-M., F.R., O.K.) and Pediatrics (J.G.), University Hospital, Uppsala University, S-751 85 Uppsala, Sweden; the Wallenberg Laboratory (T.T.) and Department of Endocrinology, University of Lund, S-205 02 Malmö General Hospital, Malmö, Sweden; the Children’s Hospital (J.P.), University of Helsinki, SF-00290 Helsinki, Finland; and the Department of Medicine (M.L.-O.), University Hospital, University of Lund, S-221 85 Lund, Sweden

Address all correspondence and requests for reprints to: Eystein S. Husebye, M.D., Ph.D., Department of Medicine, University Hospital, S-751 85 Uppsala, Sweden. E-mail: Eystein.Husebye{at}medicin.uu.se

Patients with autoimmune polyendocrine syndrome type I (APS I) have autoantibodies against the enzyme aromatic L-amino acid decarboxylase (AADC) of pancreatic ß-cells. The aim of the present study was to investigate the presence of anti-AADC antibodies in a large cohort of patients with APS I, and in patients with isolated insulin-dependent diabetes mellitus (IDDM). We found autoantibodies against AADC in 35 of 69 patients (51%) with APS I but in none of 138 patients with isolated IDDM or 91 healthy controls. Among the patients with APS I, anti-AADC antibodies were more often found in those with hepatitis (11/12, 92%), than in those without hepatitis (24/57, 42%) (P = 0.003). Similarly, of 15 patients with vitiligo, 12 (80%) had anti-AADC antibodies, compared with 23/54 (43%) without vitiligo (P = 0.021). Of the 9 APS I patients with IDDM, 5 had antibodies against both AADC and glutamate decarboxylase, 2 against AADC only, and 2 against glutamate decarboxylase only. Interestingly, AADC is present in relatively large amounts in the liver, where its function is unknown. Thus, an autoimmune reactivity against AADC may be involved in the pathogenesis of autoimmune chronic active hepatitis and vitiligo in APS I patients, whereas the role of AADC in the development of IDDM in these patients remains to be determined.

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