Endocrine Abstracts

Introduction: Autoimmune polyendocrinopathies (AEP) are rare diseases defined by the presence of at least two endocrine deficiencies linked to an autoimmune mechanism, sometimes with an associated non-endocrine autoimmune disease. Autoimmune polyendocrinopathy type 2 is a more common syndrome, appearing mainly in adults.

Observation: We report the case of a 27-year-old patient, admitted for management of acute inaugural adrenal decompensation, with a history of celiac disease since childhood on a gluten-free diet. Clinically, the patient presented with vomiting and abdominal pain, evolving in a context of altered general condition and melanoderma with slate patches on the inner sides of the cheeks. A blood ionogram showed hyperkalemia at 6.4 mmol/l with hyponatremia at 111mmol/l. We started the patient on hydrocortisone hemisuccinate with intravenous rehydration. Biological investigations revealed low 8-hour plasma cortisol with high ACTH, high anti-21 hydroxylase antibodies, high anti-TPO antibodies with normal TSH, and glycated hemoglobin at 6.3% with positive anti-GAD antibodies. The diagnosis of type 2 AEP was accepted. Treatment consisted of hormone replacement for adrenal insufficiency, with strict monitoring of blood glucose levels and patient education.

Discussion and conclusion: AEP-II combines several autoimmune pathologies, including Addison’s disease and autoimmune thyroid disease (Schmidt’s syndrome) and/or type 1 diabetes (Carpenter’s syndrome). Adrenal insufficiency is the initial manifestation in 50% of AEP-II cases, appearing at the same time as diabetes or thyroid damage in 20% of cases, and occurring after the other manifestations in 30% of cases. Other endocrine components of the syndrome may include primary ovarian failure, rarely testicular failure, and autoimmune hypophysitis. Non-endocrine autoimmune manifestations are polymorphous, dominated by Biermer’s disease, vitiligo, celiac disease, rheumatoid arthritis and inflammatory bowel disease. The age of onset of AEP-II varies widely, from childhood to late adulthood, usually between 20 and 40. Celiac disease has become one of the most common diseases in the world. It may be part of a multiple autoimmune disorder. This makes it necessary to screen celiac patients for other autoimmune diseases, in particular Addison’s disease.