afibrinogenemiana

Afibrinogenemia is a rare, inherited bleeding disorder characterized by a near or complete absence of fibrinogen in the blood. Fibrinogen is a protein crucial for blood clotting. When an injury occurs, fibrinogen is converted into fibrin, forming a mesh that traps blood cells and stops bleeding. In individuals with afibrinogenemia, this process is severely impaired.

This condition is typically inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the faulty gene, one from each parent, to develop the disorder. The severity of bleeding can vary significantly among affected individuals. Some may experience mild symptoms, while others suffer from severe, life-threatening hemorrhages.

Common symptoms include prolonged bleeding after minor injuries, spontaneous nosebleeds, bleeding gums, and heavy menstrual periods in women. Bleeding into joints and muscles can also occur, leading to pain and swelling. Internal bleeding, particularly in the gastrointestinal tract or brain, poses a serious risk.

Diagnosis is made through blood tests that measure fibrinogen levels and assess blood clotting function. Genetic testing can confirm the diagnosis and identify the specific mutation. Treatment primarily involves replacing the missing fibrinogen with infusions of fibrinogen concentrate or fresh frozen plasma. Prompt medical attention is crucial for managing bleeding episodes and preventing complications.