Factor VII deficiency, also known as stable factor VII deficiency or Alexander's disease, is a rare inherited bleeding disorder characterized by a deficiency or dysfunction of factor VII, a protein involved in the blood clotting process.
Factor VII is one of the clotting factors produced in the liver and is essential for the initiation of blood clot formation. In individuals with factor VII deficiency, the blood takes longer to clot, leading to prolonged bleeding episodes and an increased risk of excessive bleeding after injuries or surgeries.
Factor VII deficiency is typically inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. Symptoms can vary widely, ranging from mild bleeding tendencies to severe hemorrhages.
Diagnosis of factor VII deficiency involves blood tests to measure the levels and activity of factor VII. Genetic testing may also be performed to identify specific mutations.
Treatment options for factor VII deficiency include the administration of factor VII concentrates or fresh frozen plasma to replace the missing or dysfunctional factor. In some cases, medications that promote clotting may be used to manage bleeding episodes.
It is important for individuals with factor VII deficiency to work closely with a hematologist to develop a personalized treatment plan and to take precautions to prevent excessive bleeding.