Combined factor-V and factor-VIII deficiency: report of four cases.

Abstract

Summary:Three sisters, descendants of a consanguineous marriage, with combined Factor‐V and Factor‐ VIII deficiency, enuresis until early adulthood, and psychopathological manifestations have been reported. The family study, which included three generations, revealed several clinical and laboratory patterns: mild bleeding with normal levels of Factors V and VIII; mild bleeding with mild deficiencies of Factors V and VIII, mild Factor‐V and Factor‐VIII deficiencies without bleeding; neither bleeding nor blood clotting abnormalities. The mode of inheritance of the combined deficiency of Factors V and VIII seemed to be autosomal with complete expression in the homozygous state and partial or no expression in the heterozygous state. This conclusion is in accordance with previous reports. The association of the blood coagulation defect with psychopathological manifestations and enuresis in the present kindred appeared coincidental.A fourth woman with similar clotting defects but with normal personality is reported from another family. Her parents were also related.Infusion of fresh haemophilia A plasma to one of the patients in the first family had no effect on Factor‐V and Factor‐VIII levels, but physical effort had a remarkable effect, the levels rising after 24 hours from 16 per cent to 41 per cent and from 0.7 per cent to 32 per cent respectively. In the patient from the other family, only the Factor VIII rose after exercise (from 2.3 to 18.8 per cent), but there was a similar delay in the response.The technical assistance of Mrs. E. Goldberg is gratefully acknowledged. We are also grateful to Dr. J. Caen for plasma from a known case of Factor‐VII deficiency.