Combined Congenital Deficiency of Factor V and Factor VIII

Abstract

A patient with combined factor V and factor VIII deficiency is presented. The bleeding manifestations were mild. The main laboratory feature was a prolonged partial thromboplastin time which was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum, hemophilia A plasma or plasma of another patient with combined factor V and factor VIII deficiency. TGT was also clearly abnormal and was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum. Prothrombin consumption was mildly defective. The prothrombin time was slightly prolonged. Factor VIII was 12% and factor V 55% of normal. Factor- VIII -associated antigen was normal. The father and a sister of the propositus revealed mild factor V deficiency but normal factor VIII activity and antigen. The parents were not consanguineous. A tentative classification of combined deficiency of factors V and VIII in two groups is proposed. The hereditary transmission of the two types of deficiencies is discussed.

Hereditary combined deficiency of clotting factors V and VIII with involvement of von Willebrand factor

“…The decreased levels of factor VIII and the apparent normality of von Willebrand factor that have usually been recorded in homozygotes have led to the belief that combined factor V/VIII deficiency is a 'haemophilia-like' defect (Girolami et al 1976a) and that it does not have the characteristics of von Willebrand's disease (Soff & Levin 1981). Evidence has been accumulated in recent years, however, to suggest that the clinical and laboratory features in some of the patients with the combined defect are indeed like those of von Willebrand's disease.…”

“…One mechanism might be through the fortuitous presence in the same individual of genes which cause isolated deficiencies of factor V and factor VIII. The probability of such a coincidence is very low (Soff & Levin 1981), but there are some reported cases in which this seems to have occurred (Iversen & Bastrup-Madsen 1956;Gobbi, Ascari & Barbieri 1967;Girolami et al 1976a). Alternatively, expression of an autosomal recessive gene might somehow interfere with the normal function of factor V and factor VIII and lead to the clinical defect in homozygous cases (Soff & Levin 1981;Smit-Sibinga et al 1972).…”

Familial Multiple Coagulation Factor Deficiencies

“…The second report of a family (Fam. 22) in which a combined deficiency of Factors V and VIII ap peared to be due to two different and segregating diatheses was reported by Girolami, Gastaldi, Pastrassi, and Galletti [42]. Clinical data are summar ized in Table 5.…”

Considerations on Combined Factor VII and Factor VIII Defect

“…The main features of the two forms are summar ized in table I. A similar classification has been proposed for combined factor V and factor VIII he reditary transmission [3], At this stage, at least four genes or systems of genes seem involved, namely: (1) An x-linked gene controlling factor VIII activation, deficient or abnormal in hemophilia A. (2) An auto somal gene controlling protein synthesis, deficient or abnormal in von Willebrand's disease.…”