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Thrombophilia, or hypercoagulability, is the tendency of blood clots to form in blood vessels. It is a life-threatening condition as clots can travel with the bloodstream to many organs, for example, causing pulmonary embolism, stroke or heart attack. Thromobophilia can also contribute to a miscarriage. What are the causes and symptoms of thrombophilia? What is the treatment?

Thrombophilia , otherwisehypercoagulabilityor increased coagulation syndrome, is an inherited or acquired tendency to form clots (clots) inside deep veins or (less commonly) arteries that prevent or obstruct proper blood flow.

Thrombophilia (hypercoagulability) - causes

1.Congenital thrombophilia - causes

The most common cause of hereditary thrombophilia (hereditary thromboembolism) is a mutation in the clotting factor V gene, known as the presence of factor V Leiden. The frequency of Leiden mutations in the factor V gene in the Polish population is estimated at 5%.

Other causes of hereditary blood clotting include mutations in the prothrombin 20220A gene or deficiency in one of the three proteins that prevent clotting: protein C, protein S, and antithrombin III.

Congenital thrombophilia is inherited primarily in an autosomal dominant fashion. This means that genes are inherited regardless of gender - both men and women can carry a gene with a mutation. In addition, it is enough to pass on only one copy of the gene that determines the occurrence of the disease for the symptoms of the disease to appear.

2.Acquired thrombophilia - causes

  • immune diseases and systemic diseases of connective tissue, including: antiphospholipid syndrome, systemic lupus erythematosus, rheumatoid arthritis, dermatomyositis;
  • infections and inflammations, including ulcerative colitis, Crohn's disease;
  • cancer and chemotherapy, including: leukemias, lymphomas, colorectal cancer, lung cancer;
  • hyperhomocysteinemia (excess homocysteine) associated with renal failure, hypothyroidism or treatment with folate antagonists;

Read also: It affects women more often. How to preventthrombosis?

Thrombophilia - risk factors

The risk factors for developing blood clots in people struggling with thrombophilia are:

  • pregnancy and puerperium;
  • taking contraceptive drugs;
  • hormone replacement therapy;
  • immobilization, e.g. sitting in an airplane or in a car for a long time, prolonged, multi-day bed rest;
  • trauma;
  • surgery;
  • smoking;
  • over 60;

Thrombophilia (hypercoagulability) - complications

Congenital thrombophilia is associated with an increased risk of thrombosis in the cerebral veins, abdominal veins (most often portal and hepatic veins) and veins of the upper limbs, as well as obstetric complications - especially miscarriages in the second and third trimesters and stillbirth.

In turn, people with protein C or S protein deficiency have an increased risk of thromboembolic events in the arterial system, especially strokes.

In contrast, patients with factor V Leiden and carriers of the variant 20220A of the prothrombin gene have an increased risk of myocardial infarction.

Complications most often occur when an additional environmental factor is added to the genetic predisposition (e.g. pregnancy and puerperium, use of contraceptives, etc.).

According to an expertdr hab. Aleksandra Jezela-Stanek, MD, specialist in clinical genetics

In women who experienced habitual miscarriages (depending on the age of pregnancy - 1st or 2nd trimester) - factor V Leiden analysis, mutation in the prothrombin gene, as well as the analysis of selected mutations in the MTHFR and PAI-I genes should be performed or ANXA5.

Thrombophilia - symptoms

The most common symptom of congenital thrombophilia is deep vein thrombosis of the lower extremities. Thrombophilia is recognized as one of the major risk factors for venous thromboembolism. It is detected in 41 percent. patients with deep vein thrombosis. The risk of thrombosis is greatest in patients with antithrombin deficiency.

The disease most often appears in young people, before the age of 45.

Hypercoagulation may also be suspected when the patient or his / her family has had a thromboembolic disorder, episode of pulmonary embolism or stroke at a young age, as well as in stillbirth or abortion without any malformations after the first trimester of pregnancy .

Read also: Find out the causes of bleeding in the first half of pregnancy

Thrombophilia - diagnosis

Blood clotting tests are performed. coagulogram.

Thrombophilia -treatment

In the case of hypercoagulability, medications are taken to thin the blood and reduce its tendency to clot.

Two of the most popular blood thinners are heparin and acenocoumarol. Heparin is fast and short-lived, so it is usually given to people with hypercoagulability who need thinning medications only in special situations where their body is more likely to form clots (for example, in a hospital after surgery, when they are traveling by car or plane for a long time or when they are pregnant)

Acenocoumarol is often used for longer, even for a lifetime, therefore it will be a drug recommended for people struggling with congenital thrombophilia. The use of the latter drug requires medical supervision. It is also worth knowing that acenocoumarol interacts with various medications. In addition, it should not be taken by pregnant women.


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