Treatment of congenital fibrinogen deficiency: overview and recent findings.
Afibrinogenemia is a rare bleeding disorder with an estimated prevalence of 1:1,000,000. It is an autosomal recessive disease resulting from mutations in any of the 3 genes that encode the 3 polypeptide chains of fibrinogen and are located on the long arm of chromosome 4. Spontaneous bleeding, bleeding after minor trauma and excessive bleeding during interventional procedures are the principal manifestations. We review the management of afibrinogenemia. Replacement therapy is the mainstay of treatment of bleeding episodes in these patients and plasma-derived fibrinogen concentrate is the agent of choice. Cryoprecipitate and fresh frozen plasma are alternative treatments that should be used only when fibrinogen concentrate is not available. Secondary prophylactic treatment may be considered after life-threatening bleeding whereas primary prophylactic treatment is not currently recommended. We also discuss alternative treatment options and the management of surgery, pregnancy and thrombosis in these patients. The development of new tests to identify higher risk patients and of safer replacement therapy will improve the management of afibrinogenemia in the future.
Tziomalos
Konstantinos
K
Second Propedeutic Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, Greece. ktziomalos@yahoo.com
Vakalopoulou
Sofia
S
Perifanis
Vassilios
V
Garipidou
Vassilia
V
D000347:Afibrinogenemia / Q000097:blood / Q000151:congenital / Q000175:diagnosis / Q000188:drug therapy*; D001777:Blood Coagulation / Q000187:drug effects* / Q000235:genetics; D001780:Blood Coagulation Tests; D016913:Blood Component Transfusion; D003029:Coagulants / Q000627:therapeutic use*; D005169:Factor VIII / Q000008:administration & dosage; D005260:Female; D005340:Fibrinogen / Q000008:administration & dosage / Q000235:genetics / Q000627:therapeutic use*; D006470:Hemorrhage / Q000097:blood / Q000235:genetics / Q000517:prevention & control*; D006801:Humans; D008297:Male; D009154:Mutation; D019106:Postoperative Hemorrhage / Q000097:blood / Q000517:prevention & control; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood / Q000517:prevention & control; D016896:Treatment Outcome
D003029:Coagulants; C026912:cryoprecipitate coagulum; D005169:Factor VIII; D005340:Fibrinogen