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Epidemiology, pathogenesis, and diagnosis of Addison’s disease in adults

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Abstract

Background

Addison’s disease (AD) is a rare disorder and among adult population in developed countries is most commonly caused by autoimmunity. In contrast, in children genetic causes are responsible for AD in the majority of patients.

Purpose

This review describes epidemiology, pathogenesis, genetics, natural history, clinical manifestations, immunological markers and diagnostic strategies in patients with AD. Standard care treatments including the management of patients during pregnancy and adrenal crises consistent with the recent consensus statement of the European Consortium and the Endocrine Society Clinical Practice Guideline are described. In addition, emerging therapies designed to improve the quality of life and new strategies to modify the natural history of autoimmune AD are discussed.

Conclusions

Progress in optimizing replacement therapy for patients with AD has allowed the patients to lead a normal life. However, continuous education of patients and health care professionals of ever-present danger of adrenal crisis is essential to save lives of patients with AD.

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Funding

C.B. participated to Euradrenal Project: Pathophysiology and Natural Course of Autoimmune Adrenal Failure in Europe, Grant Agreement No. 2008-201167 of the European Union 7th Framework Program.

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Authors and Affiliations

  1. Endocrine Unit, Department of Medicine (DIMED), University of Padova, Via Ospedale Civile 105, 35128, Padua, Italy

    C. Betterle & F. Presotto

  2. Unit of Internal Medicine, Ospedale dell’Angelo, via Paccagnella 11, 30174, Mestre-Venice, Italy

    F. Presotto

  3. FIRS Laboratories, Llanishen, Cardiff, UK

    J. Furmaniak

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  1. C. Betterle
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  3. J. Furmaniak
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Correspondence to F. Presotto.

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JF is an employee of RSR Ltd. RSR Ltd is a developer of medical diagnostics including kits for measuring 21-OH autoantibodies.

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Betterle, C., Presotto, F. & Furmaniak, J. Epidemiology, pathogenesis, and diagnosis of Addison’s disease in adults. J Endocrinol Invest 42, 1407–1433 (2019). https://doi.org/10.1007/s40618-019-01079-6

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  • DOI: https://doi.org/10.1007/s40618-019-01079-6

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