Symptoms
The symptoms of thrombophilia are very varied and depend on the position of the vessel in the body, which is constricted or blocked by the formed clot. In most cases, thrombophilia only becomes apparent when an existing thrombosis or embolism is examined. An embolism is the blockage of an artery, for example in the lung, heart or brain, usually caused by a blood clot, with subsequent inadequate supply of oxygen and nutrients to the tissue.
Furthermore, thrombophilia should also be considered in women with repeated miscarriages and appropriate diagnostic measures should be taken. Thromboses, especially those in the deep veins of the leg, manifest themselves by swelling, skin discoloration, and pain in the affected leg. There are clinical indications of the presence of thrombophilia, such as a frequent and recurrent tendency to form clots, especially at a young age, known thrombosis tendencies in the family and the formation of clots in unusual positions, for example in the vessels of the brain, the veins of the intestine, the spleen, the liver and the kidneys.
The suspicion of the presence of thrombophilia is often raised in the case of recurrent thromboses that occur more frequently. Particularly suspicious is the occurrence of blood clots before the age of 45, as well as the occurrence of already known thrombosis tendencies in the family. Further diagnostic measures are based on this suspicion, which are used to try to find the cause of thrombophilia.
In addition, examinations are carried out to find out where blood clots may have already formed everywhere, in order to be able to strive for the best possible therapy. Whether and, if so, why an increased coagulability of the blood (thrombophilia) is present can be determined with the help of certain laboratory tests. For these tests, blood must be drawn from the affected person.
The tests include, among other things, the examination for the presence of possible APC resistance, the detailed examination of factor V and factor II (prothrombin) for a possible mutation, as well as the determination of the activity and, if necessary, the amount of protein C, protein S and antithrombin in the blood. (Explanation of APC resistance, factor V, factor II, protein C, protein S, antithrombin in the section Causes). In addition, antibodies are also sought in the blood, which could be a reason for the increased tendency to clot.
Furthermore, the clotting time of the blood and general blood parameters are determined. It is important that no anticoagulant drugs, such as Marcumar® or heparin, are taken in about 3-4 weeks before the blood test, as these can falsify the laboratory results.However, the drugs should not be discontinued independently, but always in consultation, ideally with the treating physician. An already existing thrombosis in the veins of the leg, for example, can often be detected by evaluating and comparing the legs during an examination. Often an ultrasound of the leg veins is also performed to confirm the diagnosis, which can reveal a possible blood clot. In addition, computer tomography/CT examinations can be useful, especially to exclude embolisms.
