A Case of Autoimmune Polyglandular Syndrome Type 2 Presenting as Dyspnea

Main Article Content

Anton Moshynskyy
Keren-happuch Ho
Gudrun Caspar-Bell

Keywords

APS2, Autoimmune Polyglandular Syndrome

Abstract

We will discuss the case of a 17-year-old male who initially presented to care with shortness of breath on exertion. His symptoms progressed over 7 months to include general weakness, anorexia, and malaise. He presented again to care with tachycardia and hypotension. A combination of dermatological manifestations of autoimmune disease, extensive family history of autoimmune disease, and electrolyte abnormalities prompted a bedside thyroid ultrasound, which led to investigation for thyroid disease. Hormone and antibody testing confirmed the diagnosis of autoimmune polyglandular syndrome type 2 (APS2), and he was successfully treated with levothyroxine, hydrocortisone, and fludrocortisone replacement. We present a case of APS2 in an unusual patient population, with a seldom reported initial manifestation. We will discuss diagnostic clues, investigations, management, and further monitoring of APS2.



Resume
Nous aborderons le cas d’un adolescent de 17 ans qui a d’abord consulté pour un essoufflement à l’effort. Ses symptômes ont évolué sur une période de sept mois et comprennent une faiblesse générale, une anorexie et un malaise. Puis, il a consulté de nouveau pour une tachycardie et une hypotension. Une combinaison de signes dermatologiques de maladie auto-immune, d’antécédents familiaux importants de maladie auto-immune et d’anomalies électrolytiques a conduit à la réalisation d’une échographie de la thyroïde au chevet du patient, ce qui a mené à la recherche d’une maladie thyroïdienne. Le dosage des hormones et le dépistage d’anticorps ont confirmé le diagnostic de polyendocrinopathie auto-immune de type 2 (PEA2), et il a été traité avec suc-cès par la lévothyroxine, l’hydrocortisone et la fludrocortisone de remplacement. Nous présentons un cas de PEA2 chez une population de patients inhabituelle, une manifestation initiale y étant rarement rapportée. Nous aborderons les pistes de diagnostic, les examens, la prise en charge et la surveillance accrue de la PEA2.

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