Unique presentation of immune thrombocytopenic purpura in adult osteopetrosis: A case report.

Osteopetrosis is a genetic disorder characterized by impaired osteoclast function, leading to diffuse osteosclerosis, brittle bones, and hematologic abnormalities. Herein, we report the case of a 55-year-old woman diagnosed with adult-onset osteopetrosis at age 33 after imaging demonstrated dense and marbled long bones, sclerotic medullary canals, vertebral endplate thickening, and hepatosplenomegaly. Bone marrow biopsy revealed preserved megakaryocytes, yet she experienced recurrent episodes of thrombocytopenia that responded to oral steroids and ultimately resolved following splenectomy, supporting an immune-mediated etiology of thrombocytopenia clinically managed as immune thrombocytopenic purpura. The clinical course was further complicated by multiple periprosthetic fractures, highlighting both the diagnostic and management challenges of this condition.