Factor V deficiency: a concise review.
Factor V (FV; proaccelerin or labile factor) is the plasma cofactor for the prothrombinase complex that activates prothrombin to thrombin. FV deficiency can be caused by mutations in the FV gene or in genes encoding components of a putative cargo receptor that transports FV (and factor VIII) from the endoplasmic reticulum to the Golgi. Because FV is present in platelet alpha-granules as well as in plasma, low FV levels are also seen in disorders of platelet granules. Additionally, acquired FV deficiencies can occur in the setting of rheumatologic disorders, malignancies, and antibiotic use and, most frequently, with the use of topical bovine thrombin. FV levels have limited correlation with the risk of bleeding, but overall, FV-deficient patients appear to have a less severe phenotype than patients with haemophilia A or B. The most commonly reported symptoms are bleeding from mucosal surfaces and postoperative haemorrhage. However, haemarthroses and intramuscular and intracranial haemorrhages can also occur. Because no FV-specific concentrate is available, fresh frozen plasma remains the mainstay of treatment. Antifibrinolytics can also provide benefit, especially for mucosal bleeding. In refractory cases, or for patients with inhibitors, prothrombin complex concentrates, recombinant activated FVIIa, and platelet transfusions have been successfully used. Some patients with inhibitors may also require immunosuppression.
Huang
J N
JN
Department of Pediatrics, UCSF Children's Hospital, San Francisco, California 94143-0106, USA.
Koerper
M A
MA
D001777:Blood Coagulation / Q000502:physiology; D019774:Blood Coagulation Factor Inhibitors / Q000097:blood; D001779:Blood Coagulation Factors / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003029:Coagulants / Q000627:therapeutic use; D005165:Factor V / Q000502:physiology*; D005166:Factor V Deficiency / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D015942:Factor VIIa / Q000627:therapeutic use; D005260:Female; D006470:Hemorrhage / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007492:Iran / Q000453:epidemiology; D007558:Italy / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation; D010949:Plasma; D011247:Pregnancy; D035583:Rare Diseases; D011994:Recombinant Proteins / Q000627:therapeutic use; D012042:Registries; D012720:Severity of Illness Index
D019774:Blood Coagulation Factor Inhibitors; D001779:Blood Coagulation Factors; D003029:Coagulants; D011994:Recombinant Proteins; C025667:prothrombin complex concentrates; D005165:Factor V; C103587:recombinant FVIIa; D015942:Factor VIIa