title: Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I.
abstract: The prevalence of autoantibodies against nine intracellular enzyme autoantigens, namely 21-hydroxylase, side-chain cleavage enzyme (SCC), 17 alpha-hydroxylase, glutamic acid decarboxylase 65, aromatic L-amino acid decarboxylase, tyrosine phosphatase-like protein IA-2, tryptophan hydroxylase (TPH), tyrosine hydroxylase, cytochrome P450 1A2, and against the extracellular calcium-sensing receptor, was assessed in 90 patients with autoimmune polyendocrine syndrome type I. A multivariate logistic regression analysis was performed for the presence of autoantibodies as independent predictors for different disease manifestations. Reactivities against 21-hydroxylase and SCC were associated with Addison's disease with odds ratios (ORs) of 7.8 and 6.8, respectively. Hypogonadism was exclusively associated with autoantibodies against SCC with an OR of 12.5. Autoantibodies against tyrosine phosphatase-like protein IA-2 were associated with insulin-dependent diabetes mellitus with an OR of 14.9, but with low sensitivity. Reactivities against TPH and, surprisingly, glutamic acid decarboxylase 65, were associated with intestinal dysfunction, with ORs of 3.9 and 6.7, respectively. TPH reactivity was the best predictor for autoimmune hepatitis, with an OR of 27.0. Hypoparathyroidism was not associated with reactivity against any of the autoantigens tested. No reactivity against the calcium-sensing receptor was found. Analysis of autoantibodies in autoimmune polyendocrine syndrome type I patients is a useful tool for establishing autoimmune manifestations of the disease as well as providing diagnosis in patients with suspected disease.
authors.affiliation: Department of Medical Sciences, University Hospital, SE-751 85 Uppsala, Sweden.
authors.forename: Annika
authors.initials: A
authors.lastname: Söderbergh
authors.forename: Anne Grethe
authors.initials: AG
authors.lastname: Myhre
authors.forename: Olov
authors.initials: O
authors.lastname: Ekwall
authors.forename: Gennet
authors.initials: G
authors.lastname: Gebre-Medhin
authors.forename: Håkan
authors.initials: H
authors.lastname: Hedstrand
authors.forename: Eva
authors.initials: E
authors.lastname: Landgren
authors.forename: Aaro
authors.initials: A
authors.lastname: Miettinen
authors.forename: Petra
authors.initials: P
authors.lastname: Eskelin
authors.forename: Maria
authors.initials: M
authors.lastname: Halonen
authors.forename: Tiinamaija
authors.initials: T
authors.lastname: Tuomi
authors.forename: Jan
authors.initials: J
authors.lastname: Gustafsson
authors.forename: Eystein S
authors.initials: ES
authors.lastname: Husebye
authors.forename: Jaakko
authors.initials: J
authors.lastname: Perheentupa
authors.forename: Mikhail
authors.initials: M
authors.lastname: Gylling
authors.forename: Michael P
authors.initials: MP
authors.lastname: Manns
authors.forename: Fredrik
authors.initials: F
authors.lastname: Rorsman
authors.forename: Olle
authors.initials: O
authors.lastname: Kämpe
authors.forename: Thomas
authors.initials: T
authors.lastname: Nilsson
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000032:analysis*; D001324:Autoantigens / Q000276:immunology; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004798:Enzymes / Q000276:immunology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000276:immunology*
chemical_list: D001323:Autoantibodies; D001324:Autoantigens; D015415:Biomarkers; D004798:Enzymes