Prothrombin mutation G20210A
| Classification according to ICD-10 | |
|---|---|
| D68.5 | Primary thrombophilia |
| ICD-10 online (WHO version 2019) | |
The prothrombin mutation G20210A represents a hereditary risk factor for the development of thrombosis . It is found in 2–3% of the population in Germany and leads to an approximately five-fold increased risk in heterozygous carriers, in the homozygous form the risk of thrombosis is higher. After APC resistance, it is the second most common hereditary tendency to thrombosis.
causes
This disease has a point mutation in which guanine was exchanged for adenine at position 20210 of the prothrombin gene. Usually one allele is affected (heterozygosity), in very rare cases both alleles are affected (homozygosity). Since the mutation lies in the intron area of the prothrombin gene, the mutation does not change the prothrombin protein, but affects the regulation of expression. As a result, more prothrombin (factor II) is produced than is actually needed. This increases the tendency of the blood to clot.
proof
The increased prothrombin concentration can be detected and provides an uncertain indication of the prothrombin mutation G20210A. Diagnostics using molecular genetic diagnostics ( PCR , hybridization ), as used in the context of thrombophilia diagnostics, is safe . This thrombophilia diagnosis is indicated for familial or atypical thromboses. The mutation should be searched for, as well as other causes of thrombophilia, such as protein C and protein S deficiency , ATIII deficiency and, above all, APC resistance .
therapy
As with other thrombophilia, an anticoagulant such as B. Phenprocoumon used and an INR at least over 2.0 aimed.
Thrombosis-inducing situations should be avoided, especially the combination of smoking and birth control pills .
Particular attention should be paid to problems related to operations, pregnancy and the puerperium.
