Unveiling a 25-Year Journey: The Story of an Acquired Hemophilia Patient

Authors: Kharel, Z; Singal, M; Sham, RL

Affiliations: Department of Hematology/Oncology, Rochester General Hospital, Rochester, New York. Indiana Hemophilia and Thrombosis Center, Indianapolis, Indiana. Department of Hematology/Oncology, Rochester General Hospital, Rochester, New York.

Publication: Rhode Island medical journal (2013); 2025; 108. 34–36

ABSTRACT: A 27-year-old Hispanic male with no past medical or family history presented to the hospital with progressively worsening skin bruising of six-week duration that started after a trivial leg injury (Year 1998). On physical examination, he was noted to have diffuse skin ecchymosis involving his bilateral lower extremities. Laboratory investigations revealed severe anemia with a hematocrit of 20% [Reference range (RR): 40–52%], prolonged activated partial thromboplastin time (APTT) of 112 s [RR: 25–37 s], and normal prothrombin time (PT). APTT did not correct on mixing studies. Factor VIII activity (FVIII) was undetectable [RR: 50–150%] with a FVIII inhibitor titer of 180 Bethesda Unit (BU) [RR: 0–0.5 BU]. Factor IX (FIX) activity was 198% [RR: 50–150%] and Factor XI (FXI) activity was 149% [RR: 50–150%]. Lupus anticoagulant (LA) was not detected. Ristocetin cofactor activity was 141% [RR: 40–163 %]. He was diagnosed with Acquired hemophilia A (AHA). Antinuclear antibody (ANA), Human

immunodeficiency virus (HIV), and Hepatitis B and C serologies were negative. Chest X-ray was unremarkable. Along with supportive blood transfusions, he was started on a prednisone taper and oral cyclophosphamide after appropriate fertility counseling. Six months later, FVIII activity increased to 67% and the inhibitor titer became undetectable.