Thrombophilia

Thrombophilias are conditions characterized by alterations in the coagulation system that can predispose to thrombotic events characterized by partial or complete occlusion of blood vessels and reduced blood flow. Thrombophilias can result from environmental and genetic factors and can be inherited or acquired (secondary to advanced age, pregnancy, obesity, use of estrogen-progestin contraceptives, neoplasms, etc.).

With the genetic test for thrombophilia, various mutations can be studied:

• Factor V mutation (Leiden, H1299R, Y1702, R306T)
• Factor II G20210A mutation (Prothrombin)
• ACE (Angiotensin Converting Enzyme) – Polymorphism I/D
• AGT
• APO B
• APO E
• Factor XIII
• Beta Fibrinogen
• HPA
• PAI-1
• MTHFR 677 and 1298

Why undergo genetic analysis for Thrombophilia?

Genetic testing allows, based on the detection of the sought mutations, which can be in single copy (heterozygous) or in double copy (homozygous), to assess the predisposition to a more or less elevated risk of thrombotic events.

However, the predictive value of these tests varies. The development or absence of thrombotic events varies depending on the presence of other coexisting genetic factors and environmental risk factors for thrombophilia.

When is it recommended?

Genetic testing for thrombophilia may be considered in the following cases:

• A first episode of venous thromboembolism before the age of 50, in the absence of risk factors for thrombosis (obesity, bed rest, fractures, previous surgery)
• History of recurrent venous thromboembolism
• Venous thrombosis in unusual sites: cerebral, mesenteric, portal, or hepatic veins
• Venous thrombosis during pregnancy or postpartum
• Venous thrombosis associated with the use of oral contraceptives containing estrogens or hormone replacement therapy
• Venous thrombosis at any age in an individual with a first-degree relative with venous thrombosis before the age of 50
• Unexplained neonatal thrombosis
• Recurrent miscarriages

 

How is genetic testing for Thrombophilia carried out at Clinica Arsbiomedica?

For the test, a blood sample is required. Prior to and following the test, consultation with a Geneticist is scheduled to provide all relevant information.

How to prepare for genetic testing

Fasting is not required. It is recommended to bring reports of any previous clinical examinations related to the indication for genetic testing for review.