Dysfibrinogenämien

Dysfibrinogenämien are a group of inherited blood disorders characterized by abnormal fibrinogen, a protein crucial for blood clotting. Fibrinogen is a soluble plasma protein that, upon activation, forms fibrin, which stabilizes blood clots. In dysfibrinogenämien, the fibrinogen molecule is structurally altered, leading to impaired clot formation and increased bleeding tendencies.

The most common type of dysfibrinogenämia is dysfibrinogenemia Bournville, caused by a single amino acid substitution in the fibrinogen molecule. This results in a shortened fibrinogen molecule that is less effective in forming stable clots. Other types include dysfibrinogenemia Milan, characterized by a longer fibrinogen molecule, and dysfibrinogenemia Osaka, which is caused by a deletion in the fibrinogen gene.

Dysfibrinogenämien are typically diagnosed through laboratory tests that measure fibrinogen levels and assess its function. Treatment often involves managing bleeding episodes and preventing complications, such as joint damage or internal bleeding. In severe cases, blood transfusions or fibrinogen replacement therapy may be necessary.

The inheritance pattern of dysfibrinogenämien is usually autosomal dominant, meaning that a single copy of the altered gene from one parent is sufficient to cause the disorder. However, some cases may be autosomal recessive, requiring two copies of the altered gene, one from each parent.

Dysfibrinogenämien are relatively rare, affecting approximately one in 100,000 individuals. The condition can have significant implications for an individual's health, particularly in activities that involve trauma or surgery. Early diagnosis and management are crucial for minimizing the risk of complications.