Factor VII Deficiency, also known as Alexander's disease, is a rare inherited bleeding disorder. It affects approximately 1 in every 500,000 to 1 million individuals worldwide. This condition is characterized by a deficiency or dysfunction of Factor VII, a protein involved in blood clotting. The severity of symptoms can vary, ranging from mild bleeding tendencies to life-threatening hemorrhages. Diagnosis is typically made through blood tests and genetic analysis. Treatment options include replacement therapy with Factor VII concentrates or fresh frozen plasma. Early detection and appropriate management are crucial in improving the quality of life for individuals with Factor VII Deficiency.
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 clotting factor VII. This disorder affects the blood's ability to clot properly, leading to prolonged bleeding episodes and an increased risk of hemorrhage.
The prevalence of Factor VII Deficiency is estimated to be approximately 1 in 500,000 individuals worldwide. It is considered one of the rarest bleeding disorders, affecting both males and females equally. The condition is often diagnosed during infancy or early childhood, but milder cases may go undiagnosed until later in life.
Factor VII Deficiency is typically inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Carriers of a single mutated gene usually do not experience any symptoms.
While Factor VII Deficiency is rare, it is important for individuals with a family history of bleeding disorders to undergo genetic counseling and testing to assess their risk. Early diagnosis and appropriate management can help prevent complications and improve the quality of life for those affected.