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Autoantibodies against Aromatic L-Amino Acid Decarboxylase Identifies a Subgroup of Patients with Addison’s Disease¹

Department of Clinical Sciences (A.S., F.R., O.E., O.K.), University Hospital, SE-751 85 Uppsala, Sweden; Hospital for Children and Adolescence (M.H.), Helsinki University Hospital, FIN-00290 Helsinki, Finland; Department of Human Molecular Genetics (P.B.), Finland National Public Health Institute, FIN-00300, Helsinki, Finland; and Division of Endocrinology, Institute of Medicine (E.S.H.), Haukeland University Hospital, N-5021 Bergen, Norway

Address correspondence and requests for reprints to: Annika Söderbergh, M.D., Department of Medical Sciences, University Hospital, Uppsala University, SE-751 85 Uppsala, Sweden. E-mail: annika.soderbergh{at}medicin.uu.se

Autoantibodies against aromatic L-amino acid decarboxylase (AADC) are present in about 50 percent of sera from patients with autoimmune polyendocrine syndrome type I (APS I) but absent in sera from patients with different organ-specific autoimmune diseases, such as insulin-dependent diabetes mellitus, Hashimoto’s thyroiditis, and Graves’ disease. AADC is expressed in the pancreatic ß-cells, the liver, and the nervous system; and the presence of AADC antibodies has been shown to correlate to hepatitis and vitiligo in APS I patients.

Among 101 investigated patients with autoimmune Addison’s disease, 15 had high titers of AADC antibodies. According to the clinical characteristics of these patients, only 3 had APS I. The remaining 12 had either isolated Addison’s disease or associated diabetes mellitus, hypothyroidism, vitiligo, alopecia, gonadal failure, and pernicious anemia. Autoantibodies against 21-hydroxylase were present in 9 of 12, whereas autoantibodies against side-chain cleavage enzyme and 17-hydroxylase were present in 3 of 12. Two patients had only autoantibodies against AADC. DNA was available from 3 of these 12 patients. One of the patients, a woman with Addison’s disease, autoimmune thyroiditis, and premature menopause was heterozygous for a point mutation (G1021A, Val301Met) in the first plant homeodomain zinc finger domain of the autoimmune regulator (AIRE) gene.

The presence of AADC autoantibodies identifies patients with APS I and a subgroup of Addison patients who may have a milder atypical form of APS I or represent a distinct entity. Measurement of autoantibodies against AADC should be included in the evaluation of Addison’s disease.

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