Autosplenectomy in a patient with autoimmune polyglandular syndrome type 2 (APS-2)

Abstract

Autoimmune glandular syndrome type 2 is a complex genetic condition where a triad of endocrinopathies is involved, namely, Addison's disease, type 1 diabetes, and/or autoimmune thyroid disorder. The disease predisposes one to a variety of other autoimmune associations. Here, we report a rare presentation of a patient with autoimmune polyglandular syndrome type 2 (APS-2) presenting with a 7-year history of progressive splenic atrophy causing functional hyposplenism that ultimately progressed to anatomical asplenia (autosplenectomy) as demonstrated in the serial imaging. We postulate that the underlying cause of this presentation is also of autoimmune nature. Unlike APS-1, which has been linked to hyposplenism, this is the first reported case of APS-2 with similar splenic involvement. Splenic hypofunction can increase susceptibility to encapsulated bacterial infection, with overwhelming postsplenectomy infection (OPSI) being a significant threat. It is crucial that clinicians recognize the importance of providing guidance on vaccinations, antibiotic chemoprophylaxis, and patient education for individuals with asplenia or hyposplenism. If patients with APS can experience progressive splenic atrophy, we suggest long-term follow-up with splenic function assessment. It is yet unclear whether preemptive screening with pitted red cell count has any clinical impact in this group of patients.