[Translate to Englisch:] Gerinnungsstörungen - Bedeutung für die Entstehung und Therapie der venösen Thrombose
Coagulapathy- importance for the development and the therapy of venous thrombosis
Coagulation of blood and the liquidation of coagulation are normal physical processes that occur constantly in the blood circulation and are in a delicate balance. The ability of the blood to coagulate is vital, so that it can stop in e.g. a case of a laceration. But an over-activity of the coagulation function can lead to a spontaneous ability for coagulation dominantly in the venous system where the blood flows with a very low speed. This can cause a clot, a thrombus with a closure, what can lead to a deadly pulmonary embolism.
Acquired factors that can lead to coagulation, almost always in the legs, are a result of a lack of exercise of the muscles in the leg (e.g. stroke, cast). The risk of a thrombosis also increases because of smoking, being overweight, taking of estrogen, pregnancy and confinement.
There are also hereditable disorders of coagulation that occur in Europe with a frequency of 10%, but not everyone suffers from thrombosis.
Factor V Leiden mutation/ APC resistence
This is with about 5%-8% the most common hereditable disposition to thrombosis in Europe and North America. A heterozygous person (mutation is only inherited from one parent) has a 5%-10% higher risk for thrombosis (this is equal to the risk in the final trimester of pregnancy). Additional risk factors like smoking and consuming estrogen supplements containing specific substances increase the risk dramatically.
This change of genes can be found in about 30%-40% of thrombosis patients.
A homozygous person (mutation inherited from both parents) has a 50%- 100% higher risk for thrombosis. But this is rarely the case.
Heterozygous thrombosis patients do not need to take an oral anticoagulation substance (Coumadin, Marcurmar) permanently until recurrent thrombosis occurs. Whereas, homozygous patients need this substance after the first thrombosis.
The heterozygous factor V Leiden mutation is in approximately 40% of the cases combined with a prothrombin mutation combined.
Prothrombin mutation G20210A/ Factor II Mutation
This change occurs in about 1%-4% of the normal population and can be found at about 5%-10% of thrombosis patients.
The risk of a thrombosis for heterozygous persons is 3-5 times greater. For the very rare homozygous persons the risk is 20 times higher.
The inherent lack of protein C/ protein S, antithrombin is extremely rare (0,1%). A heterozygous lack of protein clearly increases the risk for a thrombosis. In the normal population it is very rare (0,2-0,4%) but in the population with thrombosis it can be found in up to 4%. The taking of Marcurmar/Coumadin or the existence of a liver damage leads to an acquired lack of protein C.
A heterozygous lack of protein S results in a moderately higher risk and can be found in approximately 4% of the thrombosis population. An acquired lack of protein S develops because of taking the pill or because of a kidney disease (nephritic syndrome).
A lack of antithrombin is very rare with a high risk for thrombosis.
This can be caused by a sepsis, cirrhosis of the liver, damage of the kidney function and chronically inflammatory intestine disease, in rare cases it is inherited (heterozygous).
The rate in the normal population for this is 0,02-0,05 %, for thrombosis patients it is about 5%. Because of the high relapse risk for a thrombosis right after the first thrombosis a lifelong oral anticoagulation is necessary right away.
The hyperhomocysteinaemia (plasma level over 15 umol) is a risk factor for the venous as well as for the arterial thrombosis. The aptitude for a higher homozyst level can be acquired or inherited (MTHFR mutation), it is often a consequence of both.
The rate for this in the normal population is approximately 2-6%, for thrombosis patients 13,27%. The risk for a vein thrombosis is increased about 3-4 times.
The hyperhomocysteinaemia can be normalised by taking Vitamin B6, B12 and folic acid (Drugstore!!).