Thrombophilia: What to know
Written by:What are thrombophilia? How are they treated? What links do you have with your pregnancy? To these and many other frequently asked questions,. Francesco Tripaldi, an expert in Hematology in Rome
What are thrombophilia?
Thrombophilies are an anomaly of blood clotting that increases the risk of thrombosis: blood flows in the vessels more slowly, aggregates and causes trumpets to close the vessel. The degeneration of these thrombi can cause phlebitis, thrombophlebitis, stroke and heart attack depending on where thrombosis occurs. There are two types of thrombophilia: hereditary and acquired ones. Hereditary thrombophilia occurs predominantly at younger ages or in subjects under the age of 50, whereas acquired ones may occur at all ages and are related to pathologies already present.
Herbal thrombophilia
The most important and most common hereditary thrombophilia types in the population are three and are due to the deficiency of Leiden factor V, lack of factor II (prothrombin), homocysteine and antiphospholipid syndrome. Thrombophilic studies have just begun because of this last syndrome, starting with research from women who had had repeated spontaneous abortions. An interesting and often unexplained fact is that in human beings blood groups are of great importance. In people with group 0 the risk of a thrombosis is very low, while in subjects with other blood type (A, B, AB) the risk is higher. This is due to the fact that in Group 0 the levels of factor VIII and the von Willebrand factor (both at the center of the coagulation cascade) are lower.
Acquired thrombophilia
Acquired thrombophiles are caused by pathologies already present such as antiphospholipid antibody syndrome, heparin thrombocytopenia, sickle cell anemia , chronic myeloproliferative syndromes (essential thrombocythemia and true polycythemia), all forms of cancer (especially if they have metastases) And factors such as venous catheter placement and pregnancy at all stages (from the third trimester and just before delivery there is a physiological increase in prothrombotic risk). The risk of thrombophilia is high especially in subjects with certain characteristics or deficits such as obesity , estrogen use and major surgical interventions, especially orthopedic ones that involve patient immobilisation.
Thrombophilia and pregnancy
Pregnant women with a Le Factor V deficiency and Factor II (or prothrombin) have a high level of thrombotic risk and must undergo prophylaxis from the preparation period, especially if they have an anamnesis and / or family history of spontaneous abortion Repeated, reduced fetal growth, previous fetal death, preeclampsia and / or placental rupture.
How is thrombophilia diagnosed?
The diagnosis of these pathologies is performed by standard examinations and by a diagnosis of molecular biology performed through the chain polymers reaction. This is a very expensive test even though current prices are lower than in previous years. Nowadays, the cost-benefit ratio is carefully evaluated, which is why guidelines for conducting this type of analysis have been established especially in young women's cases. There are specialists who, in the case of young women, do not pay attention to the cost-benefit and perform all the analyzes; While others prefer to do so only in cases of pregnant women with a history of repeated spontaneous abortion. The same divergences are also present in other forms of thrombosis, ie all non-related thrombophilia. A common point among all specialists is the implementation of screening for thrombophilia in cases of arterial thrombosis: this analysis is in fact absolutely not recommended except for young people (smokers or who use estrogen) or in patients who afterwards An aortic coronary artery bypass showed a rapid occlusion of the graft (a graft closed a few hours or a few days after the bypass position).
Thrombophilia treatment
There is currently no specific therapy for treating thrombophilia. In the congenital forms, prophylaxis varies according to the case, while in the acquired forms the disease is caused by thrombophilia: in the case of phospholipid antibodies, usually associated with autoimmune diseases, particularly lupus, immunosuppressive drugs are used in Case of cancer is performed specific treatment for the treatment of that type of cancer, etc.
Thrombophilia and possibility of recurrence
There is a possibility of recurrence and the risk factors that can affect it are:
- The extent and severity of initial thrombosis
- The triggering cause: especially the immobility for surgical interventions (especially orthopedic ones) and pregnancy
- The number of previous thrombotic events
- Male: Male is extremely at risk of relapse
- The presence of the lower cervical vein filter in pulmonary embolism cases
- The cancer
- obesity