P2.C057: The Vital Role of Early Symptom Identification and Aggressive Management in Preventing Fatal Outcomes: Autoimmune Polyglandular Syndrome Case Report

Introduction: Autoimmune Polyglandular Syndrome (APS) is a recessively inherited disorder involving immune cell dysfunction that affects various endocrine glands. It can result from mutations in the AIRE regulator gene. The HLA-DR/DQ gene predisposes individuals to specific autoimmune diseases within the syndrome. Diagnosis is established throughout DNA analysis of AIRE mutations. A physician may suspect APS based on clinical history and physical examination if the patient exhibits at least 2 out of 3 disease components. Patients can also develop many other autoimmune disorders affecting bones, skin, joints, nails, and gonads. APS type 1 is characterized by a triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency.

Case Description: This is a case of a 13-year-old Hispanic girl admitted to the Pediatric Intensive Care Unit (PICU) following an adrenal crisis. Medical history comprises APS type 1 and growth hormone deficiency managed with hormone replacement therapy. Laboratory results during hospitalization revealed hypocalcemia, hyperglycemia, hypercapnia, and hypomagnesemia.

An endocrinologist consultation led to adjustments in her medication and follow-up care. Prior hospital admission were due to hypercalcemia, hyponatremia, pallor, jaundiced skin, low glucose, vomiting, vertigo, and signs of thyroid storm complications like first degree AV block and palpitations. This case represents the importance of patient education regarding life-threatening signs and symptoms and the necessity of self-monitoring of their condition.

Discussion: Patient was counseled on the severity of her condition and instructed on how to promptly seek treatment at the first sign of symptoms, ensuring timely arrival at our PICU for appropriate care. Early identification of the condition is crucial for reducing comorbidities and the potential development of other autoimmune disorders. Effective electrolyte management and hormonal replacement with strong compliance are essential.

Conclusion: In conclusion, this case demonstrates APS’s complexity and highlights the importance of personalized management through thorough evaluation.