Stuart factor deficiency, congenital

Stuart factor deficiency, congenital is a rare blood disorder characterized by a deficiency in a protein known as Stuart factor or factor X. This protein plays a crucial role in the blood coagulation process, which is essential for stopping bleeding. The condition is congenital, meaning it is present from birth, and it falls under the broader category of hemophilia and coagulopathy disorders.

Causes

Stuart factor deficiency is caused by genetic mutations in the F10 gene, which provides instructions for making the factor X protein. These mutations lead to either insufficient production or the production of a dysfunctional version of factor X. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms

The severity of symptoms can vary widely among individuals with Stuart factor deficiency. Common symptoms include:

• Bruising easily
• Prolonged bleeding from cuts or injuries
• Nosebleeds
• Bleeding gums
• Blood in urine or stool
• Menorrhagia (heavy menstrual bleeding) in women

Severe cases may lead to life-threatening bleeding episodes, particularly in the joints, muscles, or internal organs.

Diagnosis

Diagnosis of Stuart factor deficiency involves a series of blood tests that evaluate the clotting ability of blood. These tests include:

• Prothrombin time (PT)
• Activated partial thromboplastin time (aPTT)
• Factor X assay

A definitive diagnosis is made when reduced activity of factor X is detected through these tests.

Treatment

There is no cure for Stuart factor deficiency, but the condition can be managed with regular treatment. Treatment options include:

• Replacement therapy with factor X concentrates to prevent or control bleeding episodes
• Fresh frozen plasma or prothrombin complex concentrates in cases where factor X concentrates are not available
• Avoidance of medications that can further impair blood clotting, such as aspirin

Patients with Stuart factor deficiency may also require preventive care, including vaccinations against hepatitis B, due to the potential need for blood products.

Prognosis

With appropriate treatment and management, individuals with Stuart factor deficiency can lead relatively normal lives. However, they may need to avoid certain activities that increase the risk of bleeding.

See also

• Hemophilia A
• Hemophilia B
• Von Willebrand disease

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