Abstract
BackgroundThe most common cause of primary adrenal failure (Addison’s disease) in the Western world is autoimmunity characterized by autoantibodies against the steroidogenic enzyme 21-hydroxylase (CYP21A2, 21OH). Detection of 21OH-autoantibodies is currently used for aetiological diagnosis, but how levels of 21OH-autoantibodies vary over time is not known.SettingSamples from the national Norwegian Addison’s Registry and Biobank established in 1996 (n = 711). Multi-parameter modelling of the course of 21OH-autoantibody indices over time.Results21OH-autoantibody positivity is remarkably stable, and >90% of the patients are still positive 30 years after diagnosis. Even though the antibody levels decline with disease duration, it is only rarely that this downturn reaches negativity. 21OH-autoantibody indices are affected by age at diagnosis, sex, type of Addison’s disease (isolated vs autoimmune polyendocrine syndrome type I or II) and HLA genotype.Conclusion21OH-autoantibodies are reliable and robust markers for autoimmune Addison’s disease, linked to HLA risk genotype. However, a negative test in patients with long disease duration does not exclude autoimmune aetiology.
Highlights
Acquired primary adrenal insufficiency (PAI) has multiple causes including autoimmunity, infections such as tuberculosis, genetic disorders, haemorrhage, and surgical removal
The sex ratio was equal among isolated PAI (50.3% females), and autoimmune polyendocrine syndrome type I (APS-I) (41.2% females), while females dominated the APS-II group (72.0%)
Positivity of 21OH-Abs was >85% in all three groups; the mean 21OH-Abs indices were higher for isolated PAI and APS-II [620], than for APS-I [317]
Summary
Acquired primary adrenal insufficiency (PAI) has multiple causes including autoimmunity, infections such as tuberculosis, genetic disorders, haemorrhage, and surgical removal. If 21OH-Abs are assayed many years after diagnosis, a negative result does not exclude autoimmunity. The most common cause of primary adrenal failure (Addison’s disease) in the Western world is autoimmunity characterized by autoantibodies against the steroidogenic enzyme 21-hydroxylase (CYP21A2, 21OH). A negative test in patients with long disease duration does not exclude autoimmune aetiology
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