Fibrinogénhiány

Fibrinogénhiány, also known as hypofibrinogenemia or afibrinogenemia, is a rare bleeding disorder characterized by a deficiency in fibrinogen. Fibrinogen is a crucial protein produced by the liver that plays a vital role in blood clotting. When injured, fibrinogen is converted into fibrin, which forms a mesh that strengthens the blood clot and stops bleeding. In individuals with fibrinogénhiány, this process is impaired due to insufficient or absent fibrinogen.

The severity of fibrinogénhiány can vary greatly. Afibrinogenemia, the most severe form, involves a complete absence of fibrinogen, leading to severe and often life-threatening bleeding episodes. Hypofibrinogenemia, a milder form, involves reduced levels of fibrinogen, resulting in less severe bleeding tendencies. Symptoms can include prolonged bleeding after injury or surgery, spontaneous nosebleeds, gum bleeding, and in women, heavy menstrual bleeding and bleeding after childbirth. Internal bleeding, particularly in the gastrointestinal tract or brain, can also occur.

Fibrinogénhiány is typically inherited as an autosomal recessive genetic disorder, meaning an individual must inherit two copies of the mutated gene, one from each parent, to be affected. However, acquired forms can also occur due to liver disease, disseminated intravascular coagulation (DIC), or certain medications. Diagnosis is usually made through blood tests that measure fibrinogen levels and assess its function. Treatment focuses on preventing and managing bleeding episodes, often by administering fibrinogen concentrate derived from human plasma. Regular monitoring and genetic counseling are also important aspects of managing this condition.