A Comprehensive Overview of a Rare Case of Type 2 Autoimmune Polyglandular Syndrome

Abstract

Introduction: Polyglandular deficiency syndromes reflects a wide spectrum of disorders. Autoimmune polyglandular syndrome (APS) is a rare condition generally divided into two categories APS -1 and APS -2.  Case Report: We report a case of APS-2 in a 28 years old male with marfanoid habitus, presented with significant weight loss, fever and hemoptysis. upon examination, he had exophthalmos, pallor, marfanoid habitus with systolic murmur in all cardiac areas and coarse crepitation in left hemithorax. Laboratory evaluation revealed left upper lobe pneumonia secondary to Acinetobacter. Further evaluation revealed severe hyperthyroidism, anti TPO, TRAB antibody was elevated, megaloblastic anemia with atrophic gastritis and positive 21 alpha hydroxylase.  Diagnosis: The above findings were consistent with the diagnosis of APS type 2 (Graves’ Disease, Adrenal Insufficiency, Pernicious Anaemia, Vitiligo). The presence of two or more endocrine deficiencies defines APS-2 which may include graves’ disease, type 1 Dm, primary adrenal insufficiency, hypogonadism and features like pernicious anaemia, vitiligo and alopecia.  Conclusion: Circulating antibodies may precede development of clinical disease by many years but would allow clinician to follow the patient and identify the disease onset at the earliest.