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 the best of our knowledge, is the first instance of combined deficiency of factor V and VII reported so far.
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
D'Avino R;
1983
Abstract
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 the best of our knowledge, is the first instance of combined deficiency of factor V and VII reported so far.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.


