Factor V Deficiency

Abstract

Congenital factor V (FV) deficiency is a bleeding disorder associated with mild to severe hemorrhagic symptoms and a prevalence in the general population of 1 in 1,000,000 in the homozygous form. Patients with FV deficiency and clinically significant manifestations (mainly involving mucosal tracts) show very low or unmeasurable plasma FV levels and are usually homozygous or compound heterozygous for mutations located in the FV gene ( F5). Heterozygous carriers have approximately half-normal levels of FV and are usually asymptomatic. Replacement therapy for FV-deficient patients can only rely on administration of fresh-frozen plasma because specific FV concentrates are unavailable and FV is not present in cryoprecipitate or prothrombin complex concentrates. A total of 56 mutations have been published to date as being responsible for severe or moderately severe FV deficiency; more than two thirds of these are null mutations (mainly decreasing FV expression), with the remaining being missense mutations (usually impairing FV secretion). This article will provide a concise description of the FV protein and gene and will review the molecular, clinical, and therapeutic aspects of FV deficiency.

Factor V Deficiency Associated with Congenital Cardiac Disorder and Intracranial Hemorrage

“…The severity of the symptoms may vary within a single family. There appears to be no correlation between the severity of symptoms and the level of factor V [1,2,13].…”

“…Patients with factor V deficiency have a hemophiliac like hemorrhagic disorder [1]. Epistaxis, bruising and menorrhagia are some of the common features.…”

Persistant Hemothorax after Video-Assisted Thoracoscopic Surgery Secondary to Factor V Deficiency

“…Factor V plays an important role in the anticoagulant pathway because its inactivated form participates in the inactivation of factor VIIIvia activated protein C (APC). It has a dual action as a procoagulant, with mutations, predisposing to thrombosis [3] and as an anticoagulant, with its deficiency being associated to variable severity of bleeding tendencies depending on the Factor V level [9]. Factor V deficiencies are classified as 1) Congenital (Owren parahemophilia), 2) Combined Factor V and Factor VIII deficiency, 3) Acquired due to severe hepatic disease or disseminated intravascular coagulopathy and more commonly, secondary to the development of Factor V inhibitors, i.e.…”

“…Severe complications are related to major iatrogenic pulmonary vessel injury and most of these complications occurred during upper lobectomy [2]. Hematologic studies reported Factor V deficiency, resistance to activated Protein C, which is associated with moderate to severe hemorrhages in a prevalence of 1 in 1,000,000 of the population [3]. The presence of post-operative bleeding should be alerted by physicians that a coagulation disorder may persist despite normal pre-operative coagulation profile, especially if during surgery no vascular lesion was documented.…”

Congenital Factor V Deficiency: Moroccans Cases

“…This deficiency is due to an autonomic recessive transmission, it is more common in countries where consanguineous marriages are common, which is the case in our country. Until now only 200 cases have been reported [3,5].…”