Congenital FVII deficiency and pulmonary embolism: a critical appraisal of all reported cases.
Fourteen patients with congenital factor VII (FVII) deficiency were reported to have had pulmonary embolism. All patients were type 2 defects with variably low activity but normal or near-normal antigen. Concomitant deep vein thrombosis was present in 7 instances. The majority of patients had no or only a mild bleeding tendency. Associated prothrombotic risk factors were present in 11 patients (old age, surgery, substitution therapy with prothrombin complex, plasma-derived or activated FVII concentrates). Pulmonary embolism was usually moderate or severe. In 2 cases, it was fatal. Only 4 patients were studied by means of molecular biology techniques. The Arg304Gln mutation was found in 5 of the 8 alleles. Heparin and Coumadin together with adequate substitution therapy were carried out in 5 patients with satisfactory results. The FVII deficiency does not grant a sure protection from venous thromboembolism.
Department of Medical and Surgical Sciences, University of Padua, Medical School, Padua, Italy. antonio.girolami@unipd.it
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Girolami
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Berti de Marinis
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Vettore
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Girolami
D016022:Case-Control Studies; D005168:Factor VII Deficiency / Q000150:complications / Q000188:drug therapy / Q000401:mortality; D005260:Female; D006801:Humans; D008297:Male; D011655:Pulmonary Embolism / Q000188:drug therapy / Q000209:etiology / Q000401:mortality; D020246:Venous Thrombosis / Q000188:drug therapy / Q000209:etiology / Q000401:mortality