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Thromb Haemost 1999; 82(04): 1207-1214
DOI: 10.1055/s-0037-1614361
Review Article
Schattauer GmbH

Rare Coagulation Disorders

Flora Peyvandi
1   From the Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and the Fondazione Luigi Villa, Department of Internal Medicine, IRCCS Maggiore Hospital and University of Milano, Italy; and the Hemophilia Center and Hemostasis Unit, Department of Hematology, Royal Free Hospital and University College London School of Medicine, Royal Free Campus, London, UK
,
P. M. Mannucci
1   From the Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and the Fondazione Luigi Villa, Department of Internal Medicine, IRCCS Maggiore Hospital and University of Milano, Italy; and the Hemophilia Center and Hemostasis Unit, Department of Hematology, Royal Free Hospital and University College London School of Medicine, Royal Free Campus, London, UK
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Further Information

Publication History

Received 22 April 1999

Accepted after revision 07 July 1999

Publication Date:
08 December 2017 (online)

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Summary

The type of hemorrhagic manifestations that occur in patients with recessively transmitted coagulation disorders and their optimal treatment are not well established as for hemophilia A and B and von Willebrand disease, due to the rarity of these disorders. In a Muslim country like Iran where consanguineous marriages are frequent these disorders are less rare. We chose to evaluate the pattern of bleeding symptoms in 237 Iranian patients with the inherited deficiencies of fibrinogen, factor II, combined factor V and factor VIII, factor V, factor VII and factor X. Considering “severe” life-endangering hemorrhages such as those in the CNS, gastrointestinal tract and from the umbilical cord and those potentially handicapping such as hematomas and hemarthroses; and “mild” epistaxis, menorrhagia, hematuria, oral and postsurgical bleeding, it would appear the most severe diseases are factor X and factor II deficiencies. For the remaining defects only a minority of patients, even those with unmeasurable plasma levels, had life-endangering hemorrhages or muscoloskeletal disabilities as a consequence of hemarthroses and hematomas. The relatively mild severity of clinical manifestations in recessive coagulation disorders commands safety as the primary criterion in the choice of replacement material for treatment. Hence, virally inactivated plasma and factor concentrates should be the products of choice.

Keywords

Inherited coagulation disorders - afibrinogenemia - factor II - factor V - factor VII - factor X
 

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