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Thrombophilia - congenital hypercoagulability
Danger for pregnant women
It is particularly dangerous for pregnant women. It can lead to obstetric complications, miscarriages, fetal growth retardation and even intrauterine fetal demise.
Congenital thrombophilia
Congenital thrombophilia – hypercoagulability, is a genetically determined tendency to develop blood clots. It is one of the main risk factors for venous thromboembolism. More than 40% of patients with deep vein thrombosis have an identified genetic predisposition to its development. If left untreated, thrombophilia poses the risk of life-threatening complications including pulmonary embolism, ischemic stroke and heart attack.
Who should get tested for thrombophilia?
Get a genetic test for thrombophilia if:
- you have a family history of thrombophilia
- you have a family history of thrombophilic disorders
- you have had thrombotic episodes in the past
- you are planning a pregnancy
- you have had a miscarriage or stillbirth
- you are using or intend to use hormonal contraception
- you are using or intend to use hormone replacement therapy
- you smoke cigarettes
- you have diabetes
- you are over 60 years old
- you are exposed to additional risk factors for venous thrombosis e.g. surgery, prolonged immobilization after injury, traveling by car or airplane
TROMBOPHILIA genetic testing package
Congenital thrombophilia is determined by mutations in specific genes. These changes can be identified by genetic testing.
The TROMBOPHILIA package includes analysis of 3 mutations and 3 polymorphic changes in 5 genes responsible for the genetically determined propensity to form blood clots.
Included in the package price:
Factor V Leiden (1691G>A)
The Leiden mutation in the blood clotting factor V gene increases the risk of thrombosis, stroke and heart attack. The mutation can also be a direct cause of obstetric complications, including miscarriages.
Prothrombin (c.*97G>A) (otherwise c.20210G>A)
The presence of mutations in the blood clotting factor II gene leads to increased prothrombin synthesis. High levels of prothrombin lead to increased blood clotting and an increased risk of thromboembolic disease symptoms and its consequences. Carrying a mutation in the prothrombin gene significantly increases the risk of spontaneous miscarriage in the first trimester of pregnancy.
MTHFR (c.665C>T; c.1286A>C) (otherwise c.677C>T, c.1298A>C)
Polymorphisms in the MTHFR gene interfere with the metabolism of folate and the amino acid homocysteine, which can promote the development of thrombosis and atherosclerosis. According to some scientific reports, alterations in the MTHFR gene may increase the risk of spontaneous miscarriage and neural tube defects in the fetus.
Factor V R2 (c.3980A>G) (otherwise c.4070A>G)
The co-occurrence of an R2 variant change in the blood clotting factor V gene, along with a Leiden mutation in the blood clotting factor V gene, may increase the risk of developing thromboembolism.
PAI-1/SERPINE1 (c.-820_-817G(4_5)
The presence of the 4G allele in the promoter of the plasminogen activator inhibitor-1SERPINE1(PAI-1) gene promotes the development of thromboembolic disease and heart disease. It is especially relevant when coexisting with mutations in other genes associated with the etiology of thromboembolic disease. The occurrence of 4G/4G and 4G/5G polymorphisms in the promoter of the SERPINE1 gene affects plasminogen activator inhibitor-1 levels, which can result in impaired embryo implantation, failures in the IVF procedure and the occurrence of recurrent miscarriages in the first trimester of pregnancy.
What do you gain by taking a thrombophilia test?
- You will find out if you and your children have a genetic predisposition to thrombosis – congenital thrombophilia is hereditary.
- With proper prevention, you will reduce the risk of developing thrombosis and dangerous complications during pregnancy.
- You will initiate appropriate treatment, which will reduce the risk of thrombosis, heart attack, stroke, miscarriage.
- You will better prepare for pregnancy.
- You’ll increase your chances of getting pregnant, carrying a pregnancy and delivering a healthy baby.
- You will be able to consciously choose your form of contraception.
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