hypofibrinogénemia

Hypofibrinogenemia is a rare bleeding disorder characterized by low levels of fibrinogen in the blood. Fibrinogen, also known as Factor I, is a protein produced by the liver that is essential for blood clotting. It plays a crucial role in the final stages of the coagulation cascade, where it is converted into fibrin, forming a mesh that stabilizes blood clots. When fibrinogen levels are insufficient, the blood's ability to clot properly is impaired, leading to an increased risk of bleeding.

The condition can be either congenital or acquired. Congenital hypofibrinogenemia is a genetic disorder inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the faulty gene, one from each parent, to develop the condition. Acquired hypofibrinogenemia can result from various factors such as severe liver disease, disseminated intravascular coagulation (DIC), malnutrition, or certain medications.

Symptoms of hypofibrinogenemia can vary in severity, ranging from mild to life-threatening. Common signs include prolonged bleeding from minor cuts, easy bruising, nosebleeds, and heavy menstrual bleeding in women. In more severe cases, individuals may experience spontaneous bleeding into joints or muscles, or internal bleeding. Diagnosis is typically made through blood tests that measure fibrinogen levels, along with other coagulation tests.

Treatment for hypofibrinogenemia depends on the underlying cause and the severity of bleeding. For congenital forms, treatment may involve fibrinogen replacement therapy using human fibrinogen concentrate or cryoprecipitate. Managing acquired hypofibrinogenemia focuses on treating the underlying condition responsible for the low fibrinogen levels. Regular monitoring of fibrinogen levels is important for individuals with this disorder.