What is it?
(Can also be known as Alexander’s disease, stable factor deficiency, or proconvertin deficiency. Not to be confused with acquired factor VII deficiency, which is associated with liver disease.)
Factor VII was first recognized in 1951, and originally named serum prothrombin version accerlerator (SPCA) deficiency. Although the published incidence of Factor VII deficiency is estimated at 1 in 500,000, the disorder may be more common. It is inherited in an autosomal recessive fashion, which means it affects men and women equally.
The factor VII protein is part of the cascade of clotting factors that form the chain leading to a protective blood clot. Factor VII deficiency is usually severe. In fact patients with less than 1% Factor VII activity experience similar symptoms to hemophilia. People with severe factor VII are prone to joint bleeds. In addition to spontaneous nosebleeds, people can experience bleeds in the stomach, intestines and urinary tract. Head bleeds and muscle bleeds have also been reported. Women can have severe menorrhagia.
Diagnosis is made through activated partial thromboplastin time (aPTT) test, prothrombin time (PT) test and thrombin time (TT) test. Diagnosis can be confirmed with a factor VII assay. There have been instances of combined Factor VII deficiencies with cases of Factors II, IX and X.
