dysfibrinogenemi

Dysfibrinogenemia is a rare genetic disorder characterized by abnormal fibrinogen, a protein crucial for blood clotting. Fibrinogen is produced by the liver and plays a key role in the formation of blood clots, which help stop bleeding. In dysfibrinogenemia, the fibrinogen molecule is structurally altered, leading to impaired clotting and an increased risk of bleeding.

The condition is typically inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene is sufficient to cause the disorder. The most common form of dysfibrinogenemia is caused by a mutation in the FGA gene, which encodes the alpha chain of fibrinogen. Other forms may be caused by mutations in the FGB or FGG genes, encoding the beta and gamma chains, respectively.

Individuals with dysfibrinogenemia may experience spontaneous bleeding episodes, particularly from mucous membranes and the gastrointestinal tract. They may also have a prolonged bleeding time and a low fibrinogen level. The severity of symptoms can vary widely among affected individuals.

Diagnosis of dysfibrinogenemia is typically made through genetic testing, which identifies the specific mutation responsible for the disorder. Treatment options are limited and primarily focus on managing bleeding episodes and preventing complications. In severe cases, blood transfusions or clotting factor replacement therapy may be necessary. Lifestyle modifications, such as avoiding activities that increase the risk of injury, may also be recommended.