Factor V and factor VIII, combined deficiency of, type 1(MCFD1; FMFD1; F5F8D1)

MedGen UID:: 1637212
•Concept ID:: C4551981
•: Disease or Syndrome

Synonyms:	Combined factor V and VIII deficiency; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I; FMFD I; MULTIPLE COAGULATION FACTOR DEFICIENCY I

Gene (location): Gene(s) directly associated with this condition or phenotype.	LMAN1 (18q21.32)

Monarch Initiative:	MONDO:0009206
OMIM®:	227300

Definition

Combined deficiency of factor V and factor VIII (F5F8D1) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of factor V (612309) or factor VIII (300840), respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004). Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII Another form of combined deficiency of factor V and factor VIII (F5F8D2; 613625) is caused by mutation in the MCFD2 gene (607788) on chromosome 2p21. [from OMIM]

Clinical features

From HPO

Abnormal bleeding

MedGen UID:: 264316
•Concept ID:: C1458140
•: Pathologic Function

An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.

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Reduced factor VIII activity

MedGen UID:: 892907
•Concept ID:: C4025649
•: Finding

Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.

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Factor V deficiency

MedGen UID:: 1369551
•Concept ID:: C4317320
•: Disease or Syndrome

Factor V Leiden thrombophilia is characterized by venous thromboembolism (VTE) manifesting most commonly in adults as deep vein thrombosis (DVT) in the legs or pulmonary embolism. Thrombosis in unusual locations is less common. Factors that predispose to VTE in factor V Leiden thrombophilia include: the number of factor V Leiden variant alleles (homozygotes have a much greater thrombotic risk); family history of VTE; presence of coexisting genetic thrombophilic disorders; acquired thrombophilic disorders (e.g., antiphospholipid antibody syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders); and circumstantial risk factors (e.g., pregnancy, malignancy, central venous catheters, travel, combined oral contraceptive use and other combined contraceptives, oral hormone replacement therapy [HRT], obesity, leg injury, and advancing age).

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