Thrombophilia: Symptoms, Causes and Treatment

June 4, 2024

You may have happened to need to look up thrombophilia symptoms because you are in an at-risk situation or simply curious.

In this article we discuss what thrombophilia is, what its causes are, what symptoms you may experience, and what treatments are available.

What is thrombophilia?

Thrombophilia is a condition characterized by an excessive tendency of the blood to clot, resulting in the formation of thrombi (clots).

This abnormality can be congenital, that is, inherited and present from birth, or acquired, developing over a lifetime.

About 50% of people who have had an episode of thrombosis have thrombophilia.

The congenital form is related to genetic mutations, while the acquired form is often associated with diseases or medical conditions that occur after birth.

What are the causes of thrombophilia?

The causes of thrombophilia can be divided into two main categories: congenital and acquired.

Congenital forms of thrombophilia are the result of genetic mutations that predispose the body to develop clots in blood vessels.

Acquired causes, on the other hand, include a wide range of medical conditions, such as malignant neoplasms, heart disease, blood diseases, collagenopathies, nephrotic syndromes, and lower limb paralysis.

Thrombophilia Symptoms

The symptoms of thrombophilia can vary greatly depending on the location and severity of the clots.

You must first be careful because some of the symptoms may be common to other more or less serious conditions: in this, the support of your doctor is essential.

Some of the most common symptoms include:

  • Swelling and tightness in the legs
  • Chest pain, especially during deep breathing, which could indicate the presence of a pulmonary embolus.
  • Dyspnea and difficulty breathing
  • Change in skin color: bluish or reddish skin may indicate circulation problems.
  • Dizziness
  • Paralysis and difficulty speaking
  • Visible superficial venous circulation that is often evident on the limbs may be a sign of deep venous thrombosis.
thrombophilia

How is the diagnosis made?

The diagnosis of thrombophilia is usually made by echo color doppler, a noninvasive test that uses the Doppler effect to assess blood flow and identify any suspicious changes.

This test is safe and can be repeated at short intervals to continuously monitor blood flow.

Treatments for thrombophilia

The main treatment for thrombophilia is to take oral anticoagulants, which prevent new clots from forming and manage existing ones.

During therapy, regular blood tests to monitor prothrombin and thromboplastin time are essential, thus ensuring the effectiveness of treatment and adequate blood clotting.

Good hydration is also crucial, although in some cases the circulation may stagnate, causing water retention and also requiring the use of diuretics.

But, as always, the person delegated to give you timely information is your doctor.

Thrombophilia in pregnancy

Thrombophilia is a condition that can have a significant impact on pregnancy and the health of the mother and baby. Here are some points to keep in mind now that the body is changing.

During pregnancy, the risk of venous thrombosis increases due to physiological changes in the balance of blood clotting. This risk is even higher in women who already have thrombophilia.

Venous thrombosis in pregnancy mainly affects the legs and can lead to serious complications such as pulmonary embolism.

Thrombophilia can also increase the risk of obstetric complications such as preeclampsia, fetal hypodevelopment, and recurrent miscarriages.

Women with hereditary thrombophilia have an increased risk of thrombosis and adverse pregnancy outcomes.

Routine screening for thrombophilia is not recommended in asymptomatic women facing their first pregnancy unless they have a personal or family history of thromboembolism.

Thrombophilia therefore is an important risk factor to consider during pregnancy, requiring careful evaluation and monitoring to prevent potentially serious complications for mother and baby.

We are with you

At Parentalife, we want to be by parents’ side throughout the parenting journey, and we do so with our guides, pathways, and personalized consultations.

Remember, you will never be alone; we are with you.

SOURCES

Senst B, Tadi P, Basit H, et al. Hypercoagulability. [Updated 2023 Aug 22]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538251/


About the Author

Severino Cirillo

Health, Wellness and Education Expert. With a degree in Community Health, he is the CEO of Informed Parent and is responsible for validating the blog's scientific information and coordinating the editorial team of experts, consisting of gynecologists, midwives, psychotherapists, and others in pregnancy, perinatal, and parenting wellness and health.