Thrombophilia in Pregnancy: Screening, Prevention and Treatment

Thrombophilia means the blood can easily form clots, sometimes even without injury. This is also called hypercoagulability. It occurs when the body generates too much clotting protein.

Normally, when you get a cut or are injured, blood clots stop the bleeding. Later, your body breaks down the clot when it’s not needed anymore. When you have thrombophilia, the body makes too many blood clots or the old clots remain intact.

In thrombophilia, the oxygen supply is cut off to other tissues and organs. It may result in a blood clot in the leg, deep vein thrombosis (DVT) or a pulmonary embolism. It can also result in a heart attack or a stroke.

Usually, the condition is asymptomatic unless a clot appears. Hence, estimating how many people are affected by thrombophilia is difficult. Thrombophilia can be inherited, or it can develop later in life.

Types of Thrombophilia

1. Inherited types

Factor V Leiden is a common genetic form that primarily affects Europeans.

Genetic types of thrombophilia may have a high risk of multiple miscarriages. Even with this mutation, most women have normal pregnancies.

Other inherited types include:

• Hereditary antithrombin deficiency
• Protein C deficiency
• Congenital dysfibrinogenemia
• Protein S deficiency

2. Acquired types

Antiphospholipid syndrome is one of the most common acquired types of thrombophilia. About 70 per cent of those affected are women. The antiphospholipid syndrome may increase the risk of pregnancy-related complications such as:

• Preeclampsia
• Miscarriage
• Stillbirth
• Fewer birth weights

Other causes of acquired thrombophilia include:

• Prolonged bed rest
• Cancer
• Acquired dysfibrinogenemia
• Traumatic injury

Symptoms of Thrombophilia

Thrombophilia doesn’t have any symptoms unless you have a blood clot. However, some symptoms include:

• Chest pain
• Lightheadedness

• Shortness of breath
• Pain in the upper back
• Fainting
• Dizziness
• Dry cough
• Coughing blood 
• Recurrent miscarriage 

What are the Risk Factors of Thrombophilia? 

The following reasons can make you more susceptible to thrombophilia. 

• Being overweight
• Pregnancy
• Smoking
• Cancer
• Diabetes
• Heart problems
• Prolonged bed rest
• Taking birth control pills
• Taking hormonal replacement therapy
• Old age

Who Should be Tested for Thrombophilia?

You should get tested for thrombophilia if:

• A family history of blood clots
• Blood clots in unusual areas
• You went through multiple miscarriages

Thrombophilia in Pregnancy

More than half of thromboembolic events during pregnancy are due to thrombophilia. Recurrent loss of pregnancy or miscarriage occurs in about 5% of women of reproductive age.

Hereditary and acquired thrombophilia are responsible for approximately 50 per cent of thrombotic events diagnosed during pregnancy and postnatal.

Some inherited thrombophilia factors like factor V Leiden mutation, protein C deficiency, protein S deficiency, antithrombin deficiency and prothrombin G20210A mutation may cause thromboembolism in pregnant women.

Inherited thrombophilia is associated with fetal growth restriction. Studies have linked thrombophilia to adverse pregnancy outcomes, resulting in preeclampsia and intrauterine growth restriction. It is assumed there might be a maternal predisposition to clotting that leads to thrombosis in the placental vasculature, eventually restricting the supply of oxygen and exchange of nutrients, resulting in fetal growth restriction.

The following symptoms can accompany thrombophilia:

• Repeated miscarriages
• Preeclampsia
• Intrauterine growth restriction
• Neonatal fulminant purple
• HELLP syndrome
• Stillbirth

Diagnosis for Thrombophilia

Your doctor will recommend blood tests to measure the levels of clotting proteins. They will look for gene abnormalities and certain antibodies.

These tests can decide your treatment choices, such as the type of blood thinner you should take and the duration. A screening test can help determine how often you will get blood clots and investigate whether any of your family members have thrombophilia.

To understand the importance of test results, it is advisable to get help from a genetic counsellor.

What are Thrombophilia Profile Tests?

Thrombophilia does not cause visible symptoms. Even if you have the condition, you will not know unless you have a blood clot. 

Screening for thrombophilia includes:

• Antithrombin
• Lupus anticoagulant
• Prothrombin gene mutation
• Protein C
• Protein S
• anti-cardiolipin antibodies
• Factor V Leiden
• anti-β-2-glycoprotein-1 antibodies

Icd 10 Thrombophilia Test is performed to check early haemorrhage before completion of 20 weeks of gestation.

How is Thrombophilia Treated?

You may not need treatment for thrombophilia until you get a blood clot or have a high risk of getting one.

You may need a blood thinner as a long-term treatment if you have the antiphospholipid antibody syndrome form of thrombophilia.

Women should avoid birth control pills that have oestrogen in them. Instead, you are advised to take progestin-only pills. Your doctor may advise avoiding hormone replacement therapy for menopause symptoms.

Medications may include anticoagulants, such as warfarin or heparin, that will show the effect in a few days. For immediate blood clot treatment, you can use heparin for a better outcome. It is a fast-acting drug that can be used with warfarin.

How to Prevent Blood Clots due to Thrombophilia?

You can prevent unwanted blood clots by changing your lifestyle. You can:

• Maintain a healthy weight
• Stop smoking
• Exercise regularly
• Avoid sedentary lifestyle
• Get treatment for conditions that can cause thrombophilia

Take your blood thinner medication regularly. Watch for any signs of bleeding, such as nosebleeds and blood in urine and stool. If you have any concerns with your blood thinner, immediately inform your doctor.

People with cancer should always be aware of the latest screenings and medications because they have a high risk of developing blood clots.

Closing thoughts

Inherited thrombophilia cannot be prevented, whereas acquired thrombophilia can be prevented but not completely. To decrease your chances of developing blood clots, look for the warning signs and get treated immediately.

Some people have thrombophilia but never develop blood clots, nor do they need treatment. But in some cases, doctors may recommend the long-term use of blood thinners and regular blood tests.

Thrombophilia can be managed successfully by regular follow-ups with your doctor.