Afribrinogenesis D68.20

Afibrinogenemia was first described in 1920 by Rabe and Solomon.

In afibrinogenemia, the fibrinogen is completely absent. This often leads to spontaneous bleeding of the mucosa. Joint bleedings are rare. The diagnosis is made by determining the fibrinogen. The parameters of plasmatic coagulation cannot be measured. The causes are nonsense and splice mutations.

Substitution with fibrinogen (e.g. haemocompletan).

In hypo- and dysfibrinogenemias - although fibrin plays a central role in hemostasis by connecting the thrombocytes and thus leading to bleeding of the thrombi - surprisingly, spontaneous bleeding does not occur clinically in about 50% of patients.
Patients are conspicuous after surgical interventions by an extension of bleeding episodes, otherwise bleeding is extremely rare.

Genetic analyses have shown that in addition to the complete lack of fibrinogen, there are also mutations that lead to so-called hypo- or dysfibrinogenemias, which are inherited autosomal-dominantly. These are often misense mutations. These patients show prolonged prothrombin and partial thromboplastin times. These patients also have hardly any symptoms, at most slight bleeding. Over 150 genetic variations have been described. The variants are named after the city where the disease was first discovered.

The diagnosis is made by determining the fibrinogen. Platelet function, coagulation factors and fibrinolysis are normal. There is no gender preference. Primary afibrinogenemia is extremely rare. Acquired fibrin deficiency conditions, e.g. as a consequence of severe liver disease, consumption coagulopathy, large wound areas, fibrinolysis, severe blood loss, ascites and haemodilution, must be included in therapy.

1. HA Neumann (2014) The coagulation system. ABW-Wissenschaftsverlag GmbH Berlin S. 172f.