Klinische Studien bei familiärem hereditärem Faktor-VII-Mangel

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Abstract
The discovery of a severe factor VII deficiency with increased bleeding tendency resulted in investigations of 22 members of the family. In the propositus and in two of his siblings a severe hypoproconvertinemia was demonstrated, a partial deficiency was found in ten persons. Studies of the family confirmed that this disorder is transmitted by an autosomal gene with intermediate penetrance. The mutated gene produces a severe deficiency in the homozygote and a partial deficiency in the heterozygote. The parents of the homozygote patients were consanguineous. Hemorrhagic diathesis was noted only in patients with a severe factor VII deficiency. Causes for the variability of the clinical manifestations are discussed.