Addison’s Disease: Diagnosis and Management Strategies

Abstract

We aim to overview Addison’s disease (AD) with regard to current diagnosis and management. This is a narrative review of full-length articles published in English between January 2022 and December 2022 (including online ahead of print versions) in PubMed-indexed journals. We included original studies in living humans regardless of the level of statistical significance starting from the key search terms “Addison’s disease” or “primary adrenal insufficiency” in title or abstract. We excluded articles with secondary adrenal insufficiency. Briefly, 199 and 355 papers, respectively were identified; we manually checked each of them, excluded the duplicates, and then selected 129 based on their clinical relevance in order to address our 1-year analysis. We organized the data in different subsections covering all published aspects on the subject of AD. To our knowledge, this is the largest AD retrospective from 2022 on published data. A massive role of genetic diagnosis especially in pediatric cases is highlighted; the importance of both pediatric and adult awareness remains since unusual presentations continue to be described. COVID-19 infection is a strong player amid this third year of pandemic although we still not do have large cohorts in this particular matter as seen, for instance, in thyroid anomalies. In our opinion, the most important topic for research is immune checkpoint inhibitors, which cause a large panel of endocrine side effects, AD being one of them.

Keywords:

• Addison disease
• cortisol
• primary adrenal insufficiency
• synacthen
• congenital adrenal hyperplasia
• immune checkpoint inhibitor
• COVID-19

Abbreviations

AI, Adrenal insufficiency/adrenal failure; ACTH, Adrenocorticotropic Hormone; AD, Addison disease; AACE, American Association of Clinical Endocrinology; APS, autoimmune poly-endocrine syndrome; ATD, autoimmune thyroid disease; BMI, body mass index; CAH, congenital adrenal hyperplasia; DH, dual-release hydrocortisone; DXA, Dual-Energy X-Ray Absorptiometry; HR, hazard ratios; HRQoL, Health-related quality of life; ICP, immune checkpoint inhibitors; ISAQ, immune system assessment questionnaire; MEN, multiple endocrine neoplasia; MIS-C, multisystem inflammatory syndrome in children; MRI, magnetic resonance imaging; N, number of patients; NBS, Newborn Screening; NNT, nicotinamide nucleotide transhydrogenase; SST, short synacthen test; SPLIS, sphingosine-1-phosphate lyase insufficiency syndrome; TBV, total brain volume; TBS, Trabecular Bone Score.

Disclosure

The authors report no conflicts of interest in this work.