Autoimmune polyendocrine syndrome and thrombocytosis

Area of Science:

• Endocrinology
• Immunology
• Genetics

Background:

• Presents a complex case of a 37-year-old woman with a long history of autoimmune conditions including Hashimoto's thyroiditis, gonadic insufficiency, and Addison's disease.
• Diagnosis of autoimmune polyendocrine syndrome (APS) was established at age 24, coinciding with the detection of thrombocytosis and spleen atrophy.

Observation:

• The patient exhibited thrombocytosis and spleen atrophy, prompting an etiological investigation.
• Differential diagnoses for APS and hyposplenism were considered, with a focus on their potential association.

Findings:

• While asplenism is observed in approximately 20% of type 1 APS (APECED syndrome) cases, the patient's negative AIRE gene mutation test complicated the diagnosis.
• The autoimmune etiology for spleen atrophy was considered likely, but the negative AIRE mutation suggested a potential Type 2 APS classification.

Implications:

• Highlights the diagnostic challenges in autoimmune polyendocrine syndromes, especially when typical genetic markers are absent.
• Underscores the importance of considering autoimmune destruction as a cause of spleen atrophy in patients with APS.
• Suggests that Type 2 APS may present with hyposplenism, warranting further investigation into this association.