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This version published online on October 26, 2009
Journal of Clinical Endocrinology & Metabolism , doi:10.1210/jc.2009-1368
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Submitted on June 29, 2009
Accepted on September 11, 2009

Clinical, Immunological, and Genetic Features of Autoimmune Primary Adrenal Insufficiency: Observations from a Norwegian Registry

Martina M. Erichsen*, Kristian Løvås, Beate Skinningsrud, Anette B. Wolff, Dag E. Undlien, Johan Svartberg, Kristian J. Fougner, Tore J. Berg, Jens Bollerslev, Bjarne Mella, Joyce A. Carlson, Henry Erlich, and Eystein S. Husebye

Department of Medicine (M.M.E., K.L., E.S.H.), Haukeland University Hospital, N-5021 Bergen, Norway; Institute of Medicine (K.L., A.B.W., E.S.H.), University of Bergen, N-5007 Bergen, Norway; Department of Medical Genetics (B.S., D.E.U.), Oslo University Hospital, Ullevål, N-0407 Oslo, Norway; Institute of Medical Genetics (B.S., D.E.U.), University of Oslo, N-0315 Oslo, Norway; Department of Medicine (J.S.), University Hospital of North Norway, N-9038 Tromsø, Norway; Institute of Clinical Medicine (J.S.), University of Tromsø, N-9037 Tromsø, Norway; Department of Endocrinology (K.J.F.), St. Olavs University Hospital, N-7006 Trondheim, Norway; Department of Endocrinology (T.J.B.), Oslo University Hospital, Aker, N-0514 Oslo, Norway; Department of Endocrinology (J.B.), Oslo University Hospital, Rikshospitalet, N-0027 Oslo, Norway; Section of Endocrinology (J.B.) University of Oslo, N-0027 Oslo, Norway; Østfold Hospital (B.M.), N-1606 Fredrikstad, Norway; Clinical Chemistry (J.A.C.), University Hospital, S-205 05 Malmö, Sweden; and Roche Molecular Systems (H.E.), Alameda, California 94501

* To whom correspondence should be addressed. E-mail: martina.moter.erichsen{at}helse-bergen.no.

Objective: Primary adrenal insufficiency [Addison's disease (AD)] is rare, and systematic studies are few, mostly conducted on small patient samples. We aimed to determine the clinical, immunological, and genetic features of a national registry-based cohort.

Design: Patients with AD identified through a nationwide search of diagnosis registries were invited to participate in a survey of clinical features, health-related quality of life (HRQoL), autoantibody assays, and human leukocyte antigen (HLA) class II typing.

Results: Of 664 registered patients, 64% participated in the study. The prevalence of autoimmune or idiopathic AD in Norway was 144 per million, and the incidence was 0.44 per 100,000 per year (1993–2007). Familial disease was reported by 10% and autoimmune comorbidity by 66%. Thyroid disease was most common (47%), followed by type 1 diabetes (12%), vitiligo (11%), vitamin B12 deficiency (10%), and premature ovarian insufficiency (6.6% of women). The mean daily treatment for AD was 40.5 mg cortisone acetate and 0.1 mg fludrocortisone. The mean Short Form 36 vitality scores were significantly diminished from the norm (51 vs. 60), especially among those with diabetes. Concomitant thyroid autoimmunity did not lower scores. Anti-21-hydroxylase antibodies were found in 86%. Particularly strong susceptibility for AD was found for the DR3-DQ2/ DRB1*0404-DQ8 genotype (odds ratio, 32; P = 4 x 10-17), which predicted early onset.

Conclusions: AD is almost exclusively autoimmune, with high autoimmune comorbidity. Both anti-21-hydroxylase antibodies and HLA class II can be clinically relevant predictors of AD. HRQoL is reduced, especially among diabetes patients, whereas thyroid disease did not have an impact on HRQoL. Treatment modalities that improve HRQoL are needed.






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