Successful treatment with thalidomide of a patient with congenital factor V deficiency and factor V inhibitor with recurrent gastrointestinal bleeding from small bowel arteriovenous malformations

作者：Juliana Perez Botero, Daniel J.P. Burns, Carrie A. Thompson, Rajiv K. Pruthi · 发表于：Haemophilia · 年份：2012 · DOI：10.1111/hae.12066 · 被引用次数：16 · 研究领域：Hemostasis and retained surgical items、Gastrointestinal Bleeding Diagnosis and Treatment、Vascular Malformations and Hemangiomas

Factor V (FV) deficiency is a rare bleeding disorder with variable bleeding manifestations that do not necessarily correlate with the level of FV activity 1. Treatment of bleeding episodes is generally based on factor replacement through fresh frozen plasma (FFP) transfusions, as necessary, with adjunctive pharmacological therapy. The presence of FV inhibitor requires alternative treatment modalities that include bypassing agents and immunotolerance induction to decrease antibody titres 2. We describe the case of a patient with FV deficiency and FV inhibitor with recurrent gastrointestinal tract (GI) bleeding from small bowel arteriovenous malformations (AVMs) successfully treated with thalidomide after endoscopic, haemostatic and hormonal treatment failed. A 67-year-old man with congenital FV deficiency was seen at our institution in 2005 with recurrent GI bleeding. His lifelong history of mild bleeding had worsened over the preceding 10 years, and the bleeding did not respond to treatment with FFP. His laboratory data are summarized in Table 1. His FV inhibitor value was initially 17 Bethesda units. This was a new finding corresponding to an acquired inhibitor. Additional testing revealed normal von Willebrand antigen. Extended oesophagogastroduodenoscopy revealed several AVMs in the duodenum that were successfully treated with argon plasma cauterization. Small non-bleeding AVMs were seen in the jejunum and were also treated with argon plasma cauterization. He received reco...