Endocrine Abstracts

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), is a rare autosomal recessive cause of polyendocrinopathy. Mutations in the AIRE (Autoimmune regulator) gene results in failure of T cell tolerance. APECED occurs in about 1 in 90,000 to 1 in 200,000 people but is more prevalent in certain groups (Iranian Jews, Sardinians, and Finns). Its presentation depends on the gene mutation. The classic triad of symptoms are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency, though many other autoimmune disorders can also occur. The following cases represent a snapshot of the diversity of presentations in this condition. Case 1: A 3-year-old boy of consanguineous parents presented following an afebrile seizure, which resolved without intervention. However, there was a background of weight loss, recurrent oral thrush and other recurrent infections needing multiple courses of antibiotics. Clinical examination was normal but his bloods demonstrated a severe hypocalcaemia (adjusted calcium 1.05 mmol/l). He improved with treatment and was subsequently diagnosed with APECED. His condition unfortunately progressed and he developed adrenal insufficiency aged 5 years. He had a further presentation with symptomatic hypercalcaemia but has remained well since. Case 2: A 2-year-old girl was referred to ED with incidental finding of hypocalcaemia (adjusted calcium 1.66 mmol/l). However, there was a background of thrush, constipation and a family history of APECED. Her parents are consanguineous. She improved with treatment and was subsequently discharged home. Unfortunately she re-presented with an afebrile seizure, likely secondary to rapid decrease in dose of calcium supplements (as her calcium levels, though low, remained stable), once corrected, the patient was discharged home. Case 3: A 2-year-old girl presented with three days’ of abnormal gait, morning leg stiffness and not weight-bearing. There was no concurrent illness. Apart from a background of constipation, she was normally fit and well. On examination, she had clear signs of tetany. Bloods confirmed hypocalcaemia (adjusted calcium 1.45 mmol/l), hypoparathyroidism and vitamin D deficiency. Her symptoms improved and she was subsequently discharged. However she re-presented with ongoing symptoms of Covid-19 pneumonitis resulting in admission to a respiratory tertiary centre. This prompted further investigations and she was subsequently diagnosed with APECED.