Congenital factor VII deficiency a case report

Girolami, Antonio; Cattarozzi, G; Mengarda, G; Lazzarin, M

doi:10.1007/bf01637436

Cited by 8 publications

(9 citation statements)

References 16 publications

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“…These are the fifth and the sixth patients with this defect reported in Italy. The previous pa tients were reported recently by others and by us [6,20].…”

supporting

confidence: 60%

“…The lack of correc- tion of the prothrombin time after addition of the plasmas of 3 known cases of factor VII deficiency establishes the diagnosis unequivocally. The slight abnormality observed in the thromboplastin generation sys tem found in one of our cases is not surprising since this has already been seen in other proved factor VII deficient cases [6,21]. This could indicate that factor VII plays a minor role even in the thromboplastin generation.…”

Section: Discussionmentioning

confidence: 72%

“…Another lyophilized factor VH-deficient plasma was supplied by Dade Laboratories, Miami, Fla., USA. We also used the noncontacted frozen plasma of another patient with congenital hypoproconvertinemia [6].…”

Section: Methodsmentioning

confidence: 99%

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Congenital Hypoproconvertinemia (Factor VII Deficiency)

Girolami¹,

Scorza²,

Brunetti³

et al. 1973

Acta Haematol

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Two new cases of congenital factor VII deficiency are reported. They are two 7-year-old boys belonging to two different kindreds. The main clinical features were: bleeding from the gums, epitaxis (one patient), easy bruising, melena, posttraumatic and spontaneous hemarthrosis. The main coagulation features were: prolonged prothrombin time, normal Stypvencephalin clotting time, normal first stage coagulation tests, normal platelet and vascular tests. The prothrombin time was corrected by the addition of normal serum, factor II or factor V or factor X-deficient plasmas and of the abnormal factor X (factor X Friuli) plasma. On the contrary, the addition of adsorbed normal plasma and of three plasmas with known factor VII deficiency failed to correct the abnormality. The factor VII levels were found to be 2.3 and 2.7% of normal, respectively. The parents of the patients were not consanguineous. But 3 of them, together with other members of the 2 families, were found to have slightly decreased factor VII levels and were considered to be heterozygotes for the defect. These findings are consistent with an incompletely recessive pattern of autosomal inheritance

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“…These are the fifth and the sixth patients with this defect reported in Italy. The previous pa tients were reported recently by others and by us [6,20].…”

supporting

confidence: 60%

Section: Discussionmentioning

confidence: 72%

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Congenital Hypoproconvertinemia (Factor VII Deficiency)

Girolami¹,

Scorza²,

Brunetti³

et al. 1973

Acta Haematol

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“…Factor VII deficiency is a rare disorder. Only about 100 propable or sure cases have been described so far in the world literature and only 5 sure homozygotes have been describ ed in Italy together with only about 20 heterozygotes (10,11,22). Hemo philia A is a less rare condition and seems to be present in Italy in 1 out of 20,000 people.…”

Section: Discussionmentioning

confidence: 99%

“…The factor-VIIdeficient plasma used in these experiments belonged to 2 patients with classical factor VII deficiency previously reported by us. The factor VII level in such plasms is about 3 % of normal [10], Anti-factor VIII inhibitor activity was evaluated according to a modification of the method proposed by Biggs and Bidwell [1], A lyophilized factor VIII concentrate preparation (Kryobulin 250; Immuno, Wien) was reconstituted according to the manufac turer's instructions with 30 ml of distilled water. 1 ml of this preparation was then diluted 1:3 with normal saline.…”

Section: Methodsmentioning

confidence: 99%

Combined Hereditary Deficiency of Factors VII and VIII

Girolami¹,

Venturelli²,

Cella³

et al. 1976

Acta Haematol

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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.

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Surgery for Scoliosis in Congenital Factor VII Deficiency

Greene¹,

McMillan²

1982

Arch Pediatr Adolesc Med

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Congenital factor VII deficiency a case report

Cited by 8 publications

References 16 publications

Congenital Hypoproconvertinemia (Factor VII Deficiency)

Congenital Hypoproconvertinemia (Factor VII Deficiency)

Combined Hereditary Deficiency of Factors VII and VIII

Surgery for Scoliosis in Congenital Factor VII Deficiency

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