Abstract
Abstract 4444
Background
Congenital factor V deficiency is one of the rare bleeding disorders and is identified in approximately 1/1,000,000 persons. Current management relies on the use of plasma preparations to replace factor V. The clinical variability and limited therapeutic options contribute to make congenital factor V deficiency a challenging disorder.
Case report
An 18 years old male was diagnosed with severe congenital factor V deficiency (1% activity) after prolonged bleeding following trauma. He reported a past history consistent with hemarthroses and episodes of soft-tissue bleeding. After receiving a cumulative total of 67 units of plasma during his life he developed respiratory symptoms including dyspnea and chest pain. These symptoms worsened during subsequent infusions. The patient developed persistent bleeding associated with onychocryptosis and a periungual infection which was not responsive to local hemostatic measures. Because of his intolerance of plasma, he was treated with recombinant factor VIIa (rVIIa) at a dose of 50 micrograms/kg resulting in effective hemostasis. Subsequently he underwent a Syme amputation with permanent nail removal and ablation with resection of the tuft of the distal phalanx. During the perioperative period the patient received infusions of rVIIa (50 micrograms/kg) resulting in excellent hemostasis. The patient also experienced a very good response to rVIIa infusions at the same dose for the treatment of an expanding soft-tissue hematoma following accidental trauma to the posterior cervical area. The patient has tolerated the rVIIa infusions without difficulty.
Discussion
We report the successful use of rVIIa to control soft-tissue bleeding and to provide hemostasis during a surgical procedure in a patient with congenital factor V deficiency. Limited previous experience with the use of rVIIa in the management of congenital factor V deficiency includes its use for dental procedures as reported by Altisent (Haemophilia 6:408, 2000) and for synovectomy as reported by Gonzalez-Boullosa (Haemophilia 11:167, 2005). Although a mechanism of action has not been identified, it can be speculated that residual platelet factor V may become more available through rVIIa leading to increased thrombin generation.
Conclusion
rVIIa infusions resulted in improved hemostasis in a patient with severe congenital factor V deficiency.
Disclosures:
Off Label Use: recombinant factor VIIa used to control bleeding in congenital factor V deficiency.
Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs∗2) in the F5 gene