Work

Critical limb ischemia leading to amputation as a presentation of acquired hemophilia A with congenital factor XII deficiency: a case report

Year: 2025

Type: article

Abstract: Acquired Hemophilia A (AHA) is a rare autoimmune bleeding disorder caused by autoantibodies against factor VIII. Diagnosis is often delayed when confounding factors coexist. We report a 70-year-old male with peripheral arterial disease presenting with critical limb ischemia, severe anemia, and prolonged APTT. Investigations revealed factor VIII inhibitor, concomitant factor XII deficiency, and lupus anticoagulant positivity. The combination of FXII deficiency and lupus anticoagulant created significant diagnostic confusion, as both are associated with prolonged APTT but not with bleeding. This overlap risked masking the hemorrhagic tendency of AHA. Management required bypassing agents, surgery, immunosuppressive therapy with corticosteroids and rituximab, and multidisciplinary care. This case highlights the importance of considering acquired hemophilia A in unexplained bleeding with prolonged APTT, especially when coexisting conditions such as FXII deficiency and lupus anticoagulant may obscure diagnosis. • Rare coexistence of acquired hemophilia A and congenital factor XII deficiency • APTT prolongation with bleeding requires prompt workup for factor VIII inhibitors. • Early use of rFVIIa and aPCC allowed safe surgery in a high-risk bleeding patient. • Rituximab combined with corticosteroids achieved inhibitor eradication. • Multidisciplinary care was key in managing both hemorrhagic and thrombotic risks.

Source: International Journal of Surgery Case Reports

DOI: 10.1016/j.ijscr.2025.112064

Authors: Lam Van Nut, Duong Dinh Bao, Bui Le Cuong, Nguyen Van Quang

Institution: Cho Ray Hospital

Language: English

Topic: Hemophilia Treatment and Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,090