PMID- 19858318
OWN - NLM
STAT- MEDLINE
DCOM- 20100105
LR  - 20220311
IS  - 1945-7197 (Electronic)
IS  - 0021-972X (Linking)
VI  - 94
IP  - 12
DP  - 2009 Dec
TI  - Clinical, immunological, and genetic features of autoimmune primary adrenal 
      insufficiency: observations from a Norwegian registry.
PG  - 4882-90
LID - 10.1210/jc.2009-1368 [doi]
AB  - 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.
FAU - Erichsen, Martina M
AU  - Erichsen MM
AD  - Department of Medicine, Haukeland University Hospital, N-5021 Bergen, Norway. 
      martina.moter.erichsen@helse-bergen.no
FAU - Lovas, Kristian
AU  - Lovas K
FAU - Skinningsrud, Beate
AU  - Skinningsrud B
FAU - Wolff, Anette B
AU  - Wolff AB
FAU - Undlien, Dag E
AU  - Undlien DE
FAU - Svartberg, Johan
AU  - Svartberg J
FAU - Fougner, Kristian J
AU  - Fougner KJ
FAU - Berg, Tore J
AU  - Berg TJ
FAU - Bollerslev, Jens
AU  - Bollerslev J
FAU - Mella, Bjarne
AU  - Mella B
FAU - Carlson, Joyce A
AU  - Carlson JA
FAU - Erlich, Henry
AU  - Erlich H
FAU - Husebye, Eystein S
AU  - Husebye ES
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20091026
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Autoantibodies)
RN  - 0 (Glucocorticoids)
RN  - 0 (HLA Antigens)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Addison Disease/*genetics/immunology/*pathology
MH  - Adolescent
MH  - Adult
MH  - Age Factors
MH  - Aged
MH  - Aged, 80 and over
MH  - Autoantibodies/analysis
MH  - Autoimmune Diseases/*genetics/immunology/*pathology
MH  - DNA/biosynthesis/genetics
MH  - Employment
MH  - Female
MH  - Glucocorticoids/therapeutic use
MH  - HLA Antigens/genetics
MH  - Health Surveys
MH  - Hormone Replacement Therapy
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Norway/epidemiology
MH  - Quality of Life
MH  - Registries
MH  - Surveys and Questionnaires
MH  - Young Adult
EDAT- 2009/10/28 06:00
MHDA- 2010/01/06 06:00
CRDT- 2009/10/28 06:00
PHST- 2009/10/28 06:00 [entrez]
PHST- 2009/10/28 06:00 [pubmed]
PHST- 2010/01/06 06:00 [medline]
AID - jc.2009-1368 [pii]
AID - 10.1210/jc.2009-1368 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2009 Dec;94(12):4882-90. doi: 10.1210/jc.2009-1368. Epub 
      2009 Oct 26.