Congenital and Acquired Dysfibrinogenemia and Hypofibrinogenemia

Fibrinogen is a key protein in the coagulation cascade, and its primary task is the creation of a fibrin clot contributing to a stop to bleeding. Congenital dysfibrinogenemia and hypofibrinogenemia are rare inherited diseases characterized by either a functional disorder of fibrinogen or low levels of fibrinogen in the blood of the patient. Obtained dysfibrinogenemia and hypofibrinogenemia develop mostly in connection with diseases of the liver.

The focus of this project subsection is to identify the cause of the disease on the DNA level in patients with suspected dysfibrinogenemia or hypofibrinogenemia. In the case of clarification of the primary cause of the disease, we carry out functional tests of abnormal fibrinogen characteristics in order to determine the relationship between structural changes in the fibrinogen molecule and its functional properties, as well as clinical manifestations of the disease.

The expected outcome of the project is to identify previously undescribed mutations in fibrinogen molecules and their biochemical and clinical characterization, to determine the effect of these mutations on the function of fibrinogen, to improve the knowledge of the structure and function of fibrinogen, and to improve the overall quality of the patient’s life.