Thrombophilia: Symptoms, Causes & Treatment

Thrombophilia is an increased tendency for blood clots to form because of changes in the body’s clotting factors. It can cause swelling, pain, skin color changes in the affected limb, and a warmer temperature in that area.

This blood disorder is also called hypercoagulability. It happens when changes in certain blood enzymes make clotting occur faster than normal, which can lead to thrombosis.

Treatment is guided by a hematologist or a primary care provider. They may recommend anticoagulant medicines, or in more severe cases, thrombolytic medicines that are typically given in a hospital during emergencies.

Main symptoms

The main symptoms of thrombophilia are:

• Swelling in the area where the clot is located;

• Increased warmth in the affected area;

• Pain in the affected limb;

• Feeling short of breath;

• Chest pain that may worsen with deep breathing, coughing, or eating;

• More visible veins on the skin due to increased dilation;

• Bluish discoloration of the skin where the clot formed.

Thrombophilia symptoms typically emerge when blood clots form and block normal blood flow in arteries.

According to the CDC, symptoms of deep vein thrombosis (DVT) include pain or tenderness, swelling, warmth, and skin redness or discoloration in the affected area. Pulmonary embolism often presents with sudden shortness of breath and chest pain that intensifies with deep breaths or coughing.

Thrombophilia is typically diagnosed after events such as a prior blood clot (thrombosis) or miscarriage. Seek prompt evaluation from a hematologist or primary care provider if you notice any of these symptoms, to identify the cause, start treatment, and prevent complications.

Thrombophilia in pregnancy

Thrombophilia during pregnancy can lead to clot formation in the placenta or umbilical cord. It may also contribute to recurrent miscarriage, preterm birth, and pregnancy complications such as preeclampsia.

Confirming a diagnosis

Thrombophilia is diagnosed by a hematologist, primary care provider, or an OB/GYN in pregnant patients. Diagnosis is based on symptoms, a physical exam, medical history, and family history of thrombophilia.

A clinician may also order lab tests such as a complete blood count (CBC), a D-dimer level, and coagulation studies.

Genetic testing may be recommended to look for mutations such as factor V Leiden or prothrombin G20210A. Testing may also be used to evaluate deficiencies of antithrombin III, protein C, or protein S, which play a role in blood clotting.

Possible causes

The main causes of thrombophilia include:

• Genetic factors, such as mutations in factor V Leiden or the prothrombin G20210A gene;

• Deficiency of antithrombin III, protein C, or protein S;

• Advanced-stage cancer;

• Liver changes or heart disease;

• Sitting for long periods;

• Obesity;

• Pregnancy;

• Use of oral contraceptives or hormone replacement therapy (HRT).

Thrombophilia can be inherited or acquired. It is linked to changes or deficiencies in enzymes involved in blood clotting, which increases the risk of forming clots.

Can thrombophilia cause organ failure?

Although rare, thrombophilia can cause portal vein thrombosis in the liver, which can block blood circulation. In severe cases, this may lead to multiple organ failure.

In these situations, treatment is done in the hospital. Depending on which organs are affected by thrombosis, a clinician may recommend multivisceral transplantation, such as transplant of the liver, kidneys, intestine, pancreas, or stomach.

Treatment options

Treatment for thrombophilia should be guided by a primary care provider, hematologist, or OB/GYN. The goal is to help prevent clot formation and thrombosis.

The main treatments for thrombophilia are:

1. Use of medications

Medications may be recommended to help prevent new clots from forming or to help dissolve existing clots.

The main medications that may be recommended include:

• Anticoagulants, such as warfarin, heparin, rivaroxaban, dabigatran, or apixaban;

• Antiplatelet agents, such as acetylsalicylic acid (aspirin);

• Statins, such as rosuvastatin, to lower cholesterol and help prevent recurrence of deep vein thrombosis;

• Thrombolytics, such as alteplase or tenecteplase, in severe cases, given in hospitals for emergency treatment.

It is important to follow the treatment plan as prescribed to lower the risk of thrombophilia-related complications.

Lifestyle changes

Lifestyle changes can also help reduce the risk of blood clot formation, such as:

• Engaging in regular physical activity, as advised by a healthcare professional;

• Avoiding smoking or quitting smoking;

• Maintaining a healthy weight;

• Keeping high blood pressure, diabetes, and cholesterol under control;

• Avoiding long periods of sitting without moving the legs, lying down, or staying still during travel, pregnancy, the postpartum period, or hospitalization.

In addition, women at higher risk for thrombophilia, such as those with high blood pressure, diabetes, or a family history of blood clotting disorders, should avoid oral contraceptives.

Possible complications

Complications may develop when thrombophilia is not identified and treated appropriately, causing blood to clot more quickly and increasing clot formation.

These clots can block blood flow or break loose and travel to other parts of the body, potentially causing deep vein thrombosis, stroke, or pulmonary embolism. According to the American Stroke Association (part of the American Heart Association), a stroke occurs when a clot blocks a blood vessel supplying the brain.

These complications can be serious and life-threatening. For that reason, early diagnosis and treatment are important to help prevent complications.