The rare coagulation disorders - review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

• Published in: Haemophilia : the official journal of the World Federation of Hemophilia 2004-09, Vol.10 (5), p.593-628
• Main Authors: Bolton-Maggs, P. H. B., Perry, D. J., Chalmers, E. A., Parapia, L. A., Wilde, J. T., Williams, M. D., Collins, P. W., Kitchen, S., Dolan, G., Mumford, A. D.
• Format: Article
• Language: English
• Subjects: Afibrinogenemia - diagnosis; Afibrinogenemia - genetics; Afibrinogenemia - therapy; Blood Coagulation Disorders - diagnosis; Blood Coagulation Disorders - therapy; Clinical Laboratory Techniques; Coagulation Protein Disorders - diagnosis; Coagulation Protein Disorders - therapy; Ehlers Danlos syndrome; Factor V+VIII deficiency; fibrinogen; FVII; FXI; FXIII; Hemorrhagic Disorders - etiology; Hemorrhagic Disorders - therapy; Humans; Hypoprothrombinemias - diagnosis; Hypoprothrombinemias - therapy; molecular genetics; Practice Guidelines as Topic; prothrombin; rare coagulation disorders; Vitamin K Deficiency - diagnosis; Vitamin K Deficiency - therapy; vitamin K dependent factors
• ISSN: 1351-8216; 1365-2516
• DOI: 10.1111/j.1365-2516.2004.00944.x

The rare coagulation disorders are heritable abnormalities of haemostasis that may present significant difficulties in diagnosis and management. This review summarizes the current literature for disorders of fibrinogen, and deficiencies of prothrombin, factor V, FV + VIII, FVII, FX, the combined vitamin K‐dependent factors, FXI and FXIII. Based on both collective clinical experience and the literature, guidelines for management of bleeding complications are suggested with specific advice for surgery, spontaneous bleeding, management of pregnancy and the neonate. We have chosen to include a section on Ehlers‐Danlos Syndrome because haematologists may be consulted about bleeding manifestations in such patients.