ESPE Abstracts

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is а rare multisystem disorder due to mutations in the autoimmune regulator gene (AIRE). APS-1 usually is characterized by a triad of hypoparathyroidism, primary adrenal insufficiency (PAI) and chronic mucocutaneous candidiasis. In the absence of the classic triad, the diagnosis becomes obscure and is often delayed.

Case presentation: We report a 12 years old girl from consanguineous marriage born from 2nd pathologic pregnancy (antibiotic treatment due to mother’s pneumonia) at term, with birth weight of 3000 g. The patient had chronic nail and oral candidiasis with unknown duration. After the age of 7 years she had recurrent episodes of vomiting, abdominal pain and carving for salty foods. During one of the occasions, she experienced generalized seizure. Laboratory tests showed severe hypoglycemia (BGL 1.0 mmol/l), metabolic acidosis (BE -24.1 mmol/l), hyponatremia and hyperkaliemia. She was transferred to our Expert center for rare endocrine diseases. The diagnosis of adrenal crisis due to primary adrenal insufficiency was made. After intensive care and acute treatment, she was started initially with oral Hydrocortisone and Fludrocortisone. At age of 8 years 6 months the patient presented with severe megaloblastic anemia and thrombocytopenia. At admission hemoglobin level was 26 g/l, MCV 93.1 fl and platelet count was 53x109/l. Treatment with vitamin B12 and folic acid was implemented with good effect. The patient underwent gastroscopy that led to the diagnosis of atrophic gastritis. During the continuous follow up calcium and phosphorus levels were in the referent ranges, and the patient did not demonstrate any other autoimmune conditions. APS-1 was suspected based on PAI, vitamin B12 deficient anemia and candidiasis. Blood samples were sent for molecular analysis. AIRE gene screening revealed homozygous state for LRG_18t1:c[769C>T](p.Arg257*) mutation, which is frequently reported as the cause of APS-1. The patient is regularly followed and so far, she has not developed further autoimmune conditions.

Conclusion: The presented patient demonstrates the need to actively screen patients with one autoimmune condition for APS-1 at the first presentation in order to prevent omission of affected individuals and adverse events from delayed treatment.