Department of Internal Medicine at Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center, El Paso TX, USA El Paso, TX
Shivangini Duggal, MD1, Swati Mahapatra, DO2, Lakshmi Kattamuri, MD3, Alejandro Robles, MD4, Claudia Didia, MD3 1Department of Internal Medicine at Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center, El Paso TX, USA, El Paso, TX; 2Texas A&M, El Paso, TX; 3Texas Tech University Health Sciences Center, El Paso, TX; 4Department of Gastroenterology, Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center El Paso, El Paso , TX, El Paso, TX Introduction: Acquired hemophilia A (AHA) is a rare autoimmune bleeding disorder caused by development of autoantibodies against factor VIII (FVIII). It typically presents with spontaneous bleeding, often in patients without prior bleeding history, posing diagnostic challenges. Gastrointestinal (GI) bleeding is an uncommon initial presentation of AHA, often leading to multiple invasive procedures before diagnosis. Early recognition is critical to prevent morbidity.
Case Description/
Methods: Case 1: A 53-year-old male with history of alcohol use disorder and chronic pancreatitis, presented with melena, generalized bruising, and significant weight loss. He had undergone prior endoscopies revealing duodenal ulceration without active bleeding. Laboratory evaluation showed normocytic anemia, thrombocytosis, elevated LDH, low haptoglobin, and prolonged aPTT that failed to correct on mixing studies. Despite concurrent lupus anticoagulant positivity, chromogenic FVIII activity assay confirmed severe FVIII deficiency, and Nijmegen-modified Bethesda assay identified high-titer FVIII inhibitors. He was successfully treated with corticosteroids, rituximab, and cyclophosphamide. Case 2: A 89-year-old female with multiple comorbidities, presented with hematochezia following hemorrhoid banding and hemorrhoidectomy, requiring transfusion. Endoscopy revealed bleeding rectal ulcer controlled with hemostatic clips. Coagulation studies revealed prolonged aPTT uncorrected by mixing studies, low FVIII activity, and high inhibitor titers. She was managed with recombinant activated factor VII (rFVIIa), emicizumab, corticosteroids, rituximab, and cyclophosphamide, resulting in clinical stabilization and bleeding control. Discussion: These cases highlight the diagnostic complexity of AHA, particularly when presenting as GI bleeding. The presence of prolonged isolated aPTT should prompt evaluation for factor inhibitors, even in the setting of confounding lupus anticoagulant. Early diagnosis with specialized assays (chromogenic FVIII, Nijmegen Bethesda) is essential to avoid unnecessary procedures. Timely initiation of hemostatic agents such as rFVIIa and emicizumab, followed by immunosuppressive therapy, is critical for successful management and long-term remission.
Disclosures: Shivangini Duggal indicated no relevant financial relationships. Swati Mahapatra indicated no relevant financial relationships. Lakshmi Kattamuri indicated no relevant financial relationships. Alejandro Robles indicated no relevant financial relationships. Claudia Didia indicated no relevant financial relationships.
Shivangini Duggal, MD1, Swati Mahapatra, DO2, Lakshmi Kattamuri, MD3, Alejandro Robles, MD4, Claudia Didia, MD3. P5240 - Unmasking Hemophilia: A Tale of Gastrointestinal Tract Bleeding and Diagnostic Challenges, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.
