AfibrinogenämieHypofibrinogenämie

Afibrinogenämie and Hypofibrinogenämie are rare bleeding disorders characterized by a deficiency or complete absence of fibrinogen in the blood. Fibrinogen, also known as Factor I, is a crucial protein produced by the liver that plays a vital role in blood clotting. When an injury occurs, fibrinogen is converted into fibrin, forming a mesh that stabilizes blood clots and stops bleeding.

Afibrinogenämie is the more severe condition, where fibrinogen levels are virtually undetectable. This absence of fibrinogen prevents the formation of stable clots, leading to severe and prolonged bleeding. Symptoms can include spontaneous bleeding from the nose or gums, excessive bruising, and prolonged bleeding after minor cuts or injuries. In women, heavy menstrual bleeding and bleeding after childbirth can be significant issues. Internal bleeding, particularly in the gastrointestinal tract or brain, can also occur and be life-threatening.

Hypofibrinogenämie is a milder form, where fibrinogen levels are significantly reduced but not entirely absent. While individuals with hypofibrinogenämie may experience some bleeding symptoms, they are generally less severe than those seen in afibrinogenämie. Symptoms can include mild to moderate bleeding after surgery or trauma, and a tendency for bruises to form easily.

Both conditions are typically inherited in an autosomal recessive pattern, meaning an individual must inherit a faulty gene from both parents to develop the disorder. However, acquired forms can occur due to liver disease, certain cancers, or disseminated intravascular coagulation. Diagnosis involves blood tests to measure fibrinogen levels. Treatment focuses on replacing the missing fibrinogen through the administration of fibrinogen concentrate or fresh frozen plasma. Management also includes preventative measures to avoid injuries and prompt treatment of any bleeding episodes.