In our laboratories equipped with coagulation-diagnostic devices (Leverkusen, Stuttgart, Weiden) we carry out all coagulation testing including molecular-genetic analysis. A key focus here is the diagnosis of thrombophilic and haemophilic coagulation disorders, and our work also includes coagulation monitoring during pregnancies of women with inherited thrombophilia and/or a history of thromboembolism.
These disorders primarily relate to thromboses in deep leg veins, but can also occur in other veins (e.g. arm-vein thrombosis or sinus thrombosis), as well as pulmonary embolisms. Many patients with thromboembolisms have an innate tendency to thrombophilic disorders (inherited thrombophilia), and in some cases there is evidence of acquired thrombophilia (Antiphospholipid Syndrome). An examination of the possibility of inherited thrombophilia may also be useful even if the relatives of patients with thromboembolisms have to date presented as clinically normal.
As is the case with venous thromboses, inherited (hereditary) thrombophilia also play an important role in the emergence of arterial vascular occlusion (e.g. heart attacks, coronary heart disease and strokes), meaning that a Factor V Leiden mutation, for example, increases a patient's risk of suffering a heart attack. Furthermore, hyperlipidaemia or diabetes mellitus are also known to be metabolic risk factors. Lipid-metabolism disorders and arterial hypertension often have genetic causes that can be examined in our laboratories.
All risk factors mentioned above can drastically increase the risk of atherosclerosis, particularly in combination with smoking, the use of oestrogen-containing contraceptives or hormone-replacement therapy.
In primary haemostasis (the first phase of blood coagulation), the platelets form an initial wound closure. In secondary haemostasis, the coagulation cascade is activated, which forms a fibrin mesh (blood clot) by means of mutual activation of the clotting factors, and stops the bleeding.
In order to ensure sufficient haemostasis, both the number and function of the platelets and the activity of the individual clotting factors must therefore be correct. An examination of the individual clotting factors alone is therefore less meaningful than a combination of platelet-based and plasmatic coagulation tests.
It is advisable to perform an examination in the event of spontaneous bleeding (e.g. nosebleeds), provoked bleeding (e.g. after a surgical procedure or childbirth), increased tendency to bruising or also increased menstrual bleeding in women.
Recurrent miscarriage (abortion) is an inhomogeneous and multifactorial disease group that occurs in 1-2% of pregnancies. In around 50% of cases, there is evidence for inherited or acquired thrombophilia (thrombophilic diathesis). It is therefore advisable to carry out a thrombophilia investigation in the event of recurrent miscarriage. If coagulation disorders are present, therapeutic intervention can be performed by means of a low dose of aspirin and/or a low-molecular-weight heparin.
The activation markers factor VII, VIII and D-dimer increase continually in all pregnancies. In patients with a history of thromboses and/or with inherited thrombophilia, this pregnancy-related physiological coagulation activation can significantly exceed normal levels, leading to an increased risk of thrombosis during pregnancy and after childbirth. The administration of low-molecular-weight heparin (LMWH) can reduce this increased risk.