A Case of Autoimmune Polyglandular Syndrome Type 2 Presenting as Dyspnea

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. ResumeNous 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.

Schmidt syndrome mimicking depression and refractory hypotension in critically ill patient – Case Report and Literature Review

“…A tendency to develop additional autoimmune diseases is seen in about 25% of patients with autoimmune disorders [16]. Despite the hypothyroidism treatment with levothyroxine, according to the patient's medical records, the TSH level was increasing, which is common in APS2 where adrenal insufficiency should be treated at least for a week before introducing the hypothyroidism treatment [17].…”

Autoimmune Polyglandular Syndrome II: A Case Report

“…Testing for autoantibodies to 21-hydroxylase, glutamic acid decarboxylase, insulin-associated antigen, cytoplasmic islet cell, thyroperoxidase, TSH-receptor, thyroglobulin, and tissue transglutaminase should be done when APS-II is clinically suspected. This is particularly true when Addison's disease is the initial presentation, but screening for AI is less useful when the original presentation is ATD or T1DM [7]. Antibodies against steroidal enzymes, such as 21-hydroxylase, have a strong prognostic value and can be used to identify people who are at risk of developing AI.…”