Endocrine Abstracts

Introduction: Autoimmune polyendocrine syndrome type 2 (APS-II) is characterized by the presence of at least two of the following autoimmune disorders: Addison’s disease, and autoimmune thyroid disease or diabetes mellitus. It is the most prevalent form of autoimmune polyendocrine syndrome and can be accompanied by other autoimmune disorders, leading to a range of clinical pictures.

Case description: We present the case of a 57-year-old woman with a complex medical history illustrating the diverse clinical manifestations of APS-II. The patient, previously diagnosed with Addison’s disease, Hashimoto’s thyroiditis, asthma, and coeliac disease, was admitted to the hospital for diagnostic purposes. She presented gastrointestinal symptoms, predominantly loose stools, and bloating, despite strictly adhering to a gluten-free diet. This adherence was proven by laboratory tests, showing normal levels of anti-transglutaminase and anti-gliadin antibodies. During the patient’s hospital stay, she underwent a colonoscopy with sample collection. Based on the result of a histopathological examination, lymphocytic colitis was revealed. She was treated with budesonide, resulting in significant clinical improvement. In addition, the patient reported progressively worsening fatigue, particularly after physical activity, and frequent choking with difficulty swallowing over the past three years. Upon neurological examination, she presented mild weakness in facial, neck, and lower limb muscles, as well as diplopia when looking up. Further evaluation confirmed the suspected diagnosis of myasthenia gravis based on significantly elevated levels of anti-acetylcholine receptor antibodies.

Conclusion: The presented case report underscores the complexity of the medical issues associated with autoimmune polyendocrine syndromes. The varied clinical picture and the multitude of accompanying conditions can substantially delay making the correct diagnoses and initiating adequate treatment.