Thrombophilia

What is Thrombophilia?

Thrombophilia is a medical condition in which the blood tends to clot more abnormally. Individuals with thrombophilia, unlike the normal clotting reaction that protects the blood vessels from excessive bleeding following injury, are more likely than others to develop clots without apparent cause. These abnormal clots can lead to serious complications, such as Deep Vein Thrombosis (DVT), and Pulmonary Embolism (PE),.

Why does thrombophilia occur?

The body maintains an delicate balance between the formation of clots and their breakdown by using a complex system of clotting agents and anticoagulants. This balance is disturbed in people with thrombophilia. This can be due to:

• High levels of pro-coagulant factor that accelerate the formation of clots.

• Deficiency in natural anticoagulants that normally suppress clotting.

The blood is more likely to clot inappropriately as a result. This occurs especially when certain stressors are present, such as surgery, immobility or pregnancy.

Types of Thrombophilia

The two main types of thrombophilia are (genetic) inherited, and (non-genetic acquired).

Inherited Thrombophilia

The family may pass down these forms, which include:

• Factor Leiden mutation A genetic change which increases the clot’s persistence.

• Prothrombin Gene Mutation (G20210A).: Increases prothrombin levels, increasing the risk of clots.

• Deficiency of Protein C, Antithrombin III, or Protein S: The natural inhibitors of blood coagulation have been reduced.

• Combination of genetic defects. Individuals can inherit more than one mutation. This increases their risk.

Thrombophilia acquired

They are not present from birth, but can be caused by other medical conditions.

• Antiphospholipid Syndrome: A condition where clotting occurs in veins and arteries.

• Medical disorders Conditions such as cancer, chronic renal disease, and inflammatory bowel diseases may increase clotting risks.

• Medicines and hormones Estrogen-containing contraceptives, or hormone therapy, can trigger clotting.

What is Thrombophilia?

The majority of people with thrombophilia are asymptomatic up until a blood clot forms. Only when a blood clot blocks a vessel do symptoms appear. Clinical manifestations that are common include:

• Leg swelling (typically associated with DVT)

• Shortness of breath or chest pain (suggesting lung embolism)

• Deficits neurologiques, such as stroke in young patients

• Unusual Site Thrombosis, such as in the liver (Budd Chiari Syndrome) or brain.

• Complications of pregnancy including miscarriage and pre-eclampsia.

Who Should be tested?

It is not recommended that everyone undergoes routine testing for thrombophilia. Testing may be recommended if you:

• You experienced a blood clot in a very young age, without knowing the triggers.

• A strong family history of blood clots is present.

• You experience recurrent, unexplained miscarriages.

• You’ve experienced clots at unusual locations, such as the brain or abdomen.

• Skin necrosis can be caused by warfarin and other anticoagulants.

• If you are planning to become pregnant and have a family or personal history of thrombosis, it is important that you consult your doctor.

This evaluation is usually conducted by a hematologist.

How is Thrombophilia Diagnosed?

The diagnosis is based upon specialized tests of blood. The tests should be done when the patient does not take anticoagulant medication, is not pregnant or is not acutely ill. These factors can affect accurate results.

Two stages of testing are usually involved.

1. Screening panel: Basic assays for clotting activity.

2. Genetic and confirmatory tests If abnormalities are detected, further tests will be ordered.

Treatment and management of Thrombophilia

1. Preventive Strategies

Lifestyle and prevention measures are important for managing thrombophilia.

• Keep hydrated.

• Avoid prolonged inactivity.

• Maintain a healthy body weight.

• Avoid smoking, hormonal medication and other factors that can increase the risk of clots.

2. Medications

Treatment is based on the individual’s risk factors and past.

Anticoagulants

These medications can reduce the ability of blood to clot.

• Warfarin: An oral agent requiring INR monitoring.

• Direct oral anticoagulants (DOACs).: Includes dabigatran, rivaroxaban and apixaban. These don’t require regular monitoring.

• Heparin and LMWH are injectable anticoagulants that can be used during pregnancy or for immediate treatment.

Antiplatelet Therapy

Aspirin in low doses may be recommended for certain types of thrombophilias, such as antiphospholipid syndrome and during pregnancy.

3. Management of Pregnancy

The risk of clotting increases during pregnancy. Women with thrombophilia are at increased risk of clotting.

• Low-molecular-weight heparin should be used as the treatment of choice during pregnancy.

• Low dose aspirin can be added to increase placental blood circulation.

• Warfarin should be avoided during pregnancy because of the risk it poses to the fetus, but is not harmful during breastfeeding.

4. Duration Treatment

• First Clot : usually treated for 3 to 6 months.

• Lifelong anticoagulation may be required if recurrent clots, or high-risk of thrombophilia.

• Temporary Risk (e.g. surgery): May only receive short term prophylaxis.

What is the Outlook for 2019?

Most people with thrombophilia lead normal, healthy, and happy lives, particularly when they receive preventive treatment and the appropriate treatment. Untreated blood clots, however, can be deadly or dangerous. Early recognition of symptoms and prompt medical intervention can reduce complications.

Should family members be tested?

You may want to consider testing your relatives if you have been diagnosed with an inherited thrombophilia. This is especially true if:

• A family history of clots that are serious or recurrent is present.

• The woman is pregnant or undergoing surgery.

It is not recommended to test everyone unless the results have a direct impact on medical management.

Conclusion

Thrombophilia requires a careful assessment of the risks and a personalized treatment. Most people can lead healthy lives with the right care and knowledge. Speak to your doctor if you suspect a blood clot, or if there is a history of thrombosis in your family.