Congenital combined factor V and factor VIII deficiency in a male born from a brother-sister incest

A patient suffering from cardiochalasia was found to be partially deficient in both coagulation factors V and VII. No bleeding tendency had been noticed. A family study showed that the father had factor VII deficiency with normal factor V, while the mother and 2 sisters had a reduced level of factor V and normal factor VII. Thus, the combined deficiency was due to chance association of two distinct independently segregating genetic defects. While a number of combinations of coagulation factor deficiency have been previously described, this, to be best of our knowledge, is the first instance of combined deficiency of factor V and VII reported so far.

Section: Discussionmentioning

confidence: 99%

Combined Factor V and Factor VII Deficiency

Rotoli¹,

D’Avino²,

Chiurazzi³

1983

“…A smilar classification into two different types of defect has been recently proposed for combined factor V and factor VIII deficiency [9,12], This latter defect, however, is transmitted as an autosomal recessive trait. The data presented in this paper clearly indicate the existence of another factor VIII defect and of another factor VIII inheritance pattern.…”

Section: Discussionmentioning

confidence: 99%

“…The only condition which seems to be an indipendent nosological entity is combined deficiency of factors V and VIII. About 20 patients with such a peculiar defect have already been satisfactorily docu mented [9,12,17,[24][25][26][27], Similar considerations could be formulated for combined deficiencies of the prothrombin complex factors [4,23]. But the matter is still disputed particularly because only 2 cases have been described and because the defect seemed to be correctable almost completely by parenteral administration of vitamin K [4,23], Therefore, the possibility of an acquired defect secondary to impaired vitamin K adsorption remains open.…”

mentioning

confidence: 99%

Combined Hereditary Deficiency of Factors VII and VIII

Girolami¹,

Venturelli²,

Cella³

et al. 1976

A patient with a combined hereditary deficiency of factors VII and VIII is presented together with a family study. The main bleeding manifestations were easy bruising and bleeding after tooth extractions. No hemarthrosis was ever observed. The main laboratory features consisted in a mild prolongation of prothrombin time and of partial thromboplastin time. TG test was abnormal and was corrected by the addition of adsorbed normal plasma. Specific assays revealed a moderate defect of factors VII and VIII. All other clotting factors were within normal limits. The factor VII antigen in the propositus was normal or nearly normal. The factor- VIII-associated antigen was also normal. Five additional family members presented the same coagulation pattern and were variably symptomatic. The hereditary transmission pattern seems to be autosomal dominant. The defect appears to be due to a structural abnormality of a gene controlling factors VII and VIII activation.

“…This is the 22nd case reported in the literature and the 4th in Italy. The other cases studied in Italy were reported a few years ago [10,14]. Furthermore, this is the 3rd case for which a normal factor VIII antigen levels is recorded immunologically.…”

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confidence: 99%

“…Only 21 cases have been so far described in the literature [1,10,[14][15][16][18][19][20][21][23][24][25].…”

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confidence: 99%

Combined Congenital Deficiency of Factor V and Factor VIII

Girolami¹,

Gastaldi²,

Patrassi³

et al. 1976

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.