Summary
A patient with combined factor V and factor VIII deficiency is presented. The bleeding manifestations were: easy bruising, post-traumatic bleeding, bleeding after tooth extractions. 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. The thromboplastin generation test was clearly abnormal and was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum. Prothrombin consumption was also defective.
Prothrombin time was slightly prolonged too, Thrombin time, platelet and vascular tests were within normal limits and there was no hyperfibrinolysis. Factor VIII was 8% of normal, whereas factor V was 14% of normal. Factor VIII associated antigen was normal. All other clotting factors were within normal limits.
The parents of the propositus were consanguineous (first cousins) but had normal factor V and factor VIII activity and normal factor VIII antigen. The same was true for other family members. The hereditary transmission of the condition appears autosomal recessive.
Zusammenfassung
Es wird über einen Patienten mit einem kombinierten Defekt der Gerinnungsfaktoren V und VIII berichtet, der eine Neigung zu Hämatomen sowie eine verlängerte und verstärkte Nachblutung nach Verletzungen und Zahnextraktionen zeigte. Die partielle Thromboplastinzeit war verlängert und durch Zugabe von absorbiertem Normalplasma, nicht aber von Normalserum, Hämophilie-Plasma oder Plasma eines anderen Patienten mit der gleichen Defektkonstellation zu korrigieren. Die TGT war deutlich pathologisch und ebenfalls durch absorbiertes Normalplasma, nicht aber durch Normalserum zu korrigieren. Der Prothrombinverbrauch war etwas vermindert. Die Prothrombinzeit war ebenfalls verlängert, Thrombinzeit, Plättchenfunktion und Kapillarresistenz jedoch normal. Die Faktor-VIII-Aktivität betrug 8%, die Faktor-V-Aktivität 14%. Das Faktor-VIII-assoziierte Antigen war normal, ebenso alle übrigen Gerinnungsfaktoren.
Die Eltern des Patienten waren Vetter und Kusine ersten Grades. Die Faktor-V- und Faktor-VIII-Aktivität war bei ihnen ebenso wie bei weiteren Familienange-hörigen normal. Der Erbgang des Defekts scheint autosomal rezessiv zu sein.
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This study was supported in part by a grant from the C.N.R. (grant CT. 74.00189.04).
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Girolami, A., Violante, N., Cella, G. et al. Combined deficiency of factor V and factor VIII. A report of another case. Blut 32, 415–422 (1976). https://doi.org/10.1007/BF01013881
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DOI: https://doi.org/10.1007/BF01013881