Combined factor V and factor VII deficiency. Report of a case with a record on combined defects and considerations on the relevance of partial deficiency of coagulation factors.
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.
D000293:Adolescent; D005166:Factor V Deficiency / Q000097:blood / Q000150:complications* / Q000235:genetics; D005168:Factor VII Deficiency / Q000097:blood / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011517:Prothrombin Time