Factor xi deficiency

Factor XI Deficiency is a rare genetic disorder characterized by an abnormal clotting factor, Factor XI, which can lead to excessive or prolonged bleeding. It is also known as Hemophilia C.

Overview

Factor XI is a protein involved in the clotting process, which helps to prevent excessive bleeding when the body is injured. In people with Factor XI Deficiency, the body either does not produce enough Factor XI, or the Factor XI that is produced does not work properly. This can lead to a variety of bleeding problems, ranging from mild to severe.

Causes

Factor XI Deficiency is caused by mutations in the F11 gene, which provides instructions for making Factor XI. This condition is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Symptoms

The symptoms of Factor XI Deficiency can vary widely, even among members of the same family. Some people may have no symptoms, while others may experience excessive bleeding after surgery or injury, nosebleeds, heavy menstrual periods, or bleeding into joints or muscles.

Diagnosis

Factor XI Deficiency is diagnosed through a series of blood tests, including a clotting factor test, a prothrombin time (PT) test, and an activated partial thromboplastin time (aPTT) test. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for Factor XI Deficiency typically involves replacing the missing or malfunctioning Factor XI. This can be done through infusions of plasma or a Factor XI concentrate. In some cases, antifibrinolytic medicines may be used to help prevent or control bleeding.

See Also

• Hemophilia
• Bleeding disorders
• Genetic disorders

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