Familial multiple coagulation factor deficiencies - chance associations and distinct clinical disorders.
The familial multiple coagulation factor deficiencies (FMCFDs) are a group of rare haemostatic disorders of genetic origin in which there is reduced plasma activity of more than one coagulation factor. FMCFDs may arise from co-incidental inheritance of separate coagulation factor deficiencies or from a single genetic or cytogenetic defect. All the FMCFDs present significant challenges in diagnosis and management yet there is little systematic evidence with which to guide clinical practice. This review summarizes the historical literature that describes the FMCFDs and introduces a refined classification of these disorders. The clinical and laboratory characteristics of the most common FMCFDs are considered in detail.
Robson
P J
PJ
Department of Haematology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Mumford
A D
AD
D025861:Blood Coagulation Disorders, Inherited / Q000145:classification / Q000235:genetics* / Q000266:history; D020147:Coagulation Protein Disorders / Q000145:classification / Q000235:genetics* / Q000266:history; D006474:Hemorrhagic Disorders / Q000145:classification / Q000235:genetics / Q000266:history; D049673:History, 20th Century; D006801:Humans; D013577:Syndrome