Thrombophilia Definition, Reason, Symptoms, Treatment & Prevention

Thrombophilia Definition, Reason, Symptoms, Treatment & Prevention

Thrombophilia Definition

Thrombophilia is a blood disorder characterized by a tendency for blood to clot easily. Medically, thrombophilia is also known as a hypercoagulable state. In layman’s terms, this disorder is also known as thick blood disease.

People with thrombophilia are prone to forming blood clots that can block a vein (referred to as venous thrombosis) or obstruct an artery (referred to as arterial thrombosis).

Based on the cause, thrombophilia is divided into two, namely:

• Hereditary thrombophilia, namely thrombophilia that occurs due to hereditary genetic disorders.
• Acquired thrombophilia, namely thrombophilia that occurs due to certain diseases.

Thrombophilic conditions can be dangerous, and can even cause death if this disease causes a blockage (thrombosis) in the pulmonary arteries (pulmonary embolism).

Thrombophilia Symptom

Thrombophilia does not cause symptoms. However, complications of thrombophilia in the form of thrombosis cause symptoms.

Complications of thrombosis that occur due to thrombophilia can be:

• Deep vein thrombosis (deep vein thrombosis/DVT)

This disease occurs due to a blood clot that clogs the veins in the lower leg. The main symptom is swollen lower limbs. Generally swelling only occurs in one leg.

Apart from swelling, the legs also look reddish and warmer to the touch. Legs will also feel pain when moved.

• Pulmonary embolism

Pulmonary embolism is a further complication of DVT. This disease is characterized by the presence of blood clots that clog the pulmonary arteries.

Symptoms that arise are severe shortness of breath that occurs suddenly, chest pain, and loss of consciousness can occur. If not treated quickly, pulmonary embolism often leads to death.

• Strokes

Stroke in cases of thrombophilia occurs due to a blood clot that suddenly blocks the blood vessels of the brain. Like a stroke in general, the symptoms include sudden weakness on one side of the limbs, a slack mouth, slurred speech, or other nervous disorders.

• Heart attack

If a blood clot due to thrombophilia blocks a coronary artery in the heart, a heart attack (or medically known as acute coronary syndrome) can occur.

Symptoms of a heart attack are chest pain, especially in the left area which can radiate to the arm, shoulder, back or jaw. Chest pain feels like being hit by a heavy object. Generally, chest pain lasts more than 20 minutes, and does not improve with rest or medication.

Thrombophilia Reason

Hereditary thrombophilia can be caused by several things, such as:

• The presence of a component in the blood in the form of factor V Leiden
• Protein C deficiency
• S protein deficiency
• Antithrombin deficiency

Meanwhile, acquired thrombophilia is generally more susceptible to experiencing the following conditions:

• Age over 50 years
• Long lay in bed
• Inflammation and infection
• Pregnancy
• Use of hormonal drugs, such as hormonal contraceptives
• Obesity
• Diabetes mellitus
• Cancer, especially a type of adenocarcinoma
• Anti-phospholipid syndrome
• Crescent anemia and other hemolytic anemias

Diagnosis

In the early stages, the doctor will conduct a complete interview and thorough examination of the patient. Furthermore, the doctor will carry out laboratory tests to determine the function of blood clotting, in the form of examination of activated partial thromboplastin time (aPTT), prothrombin time (PT), and D-dimer.

The diagnosis of hereditary thrombophilia is generally thought of by doctors in the following conditions:

• People who have recurrent thrombosis
• Thrombosis occurs before the age of 40 years
• Have a family member with thrombosis
• Patients experience thrombosis in unusual areas, such as in the veins in the intestine, liver or brain)

If the doctor suspects that there is hereditary thrombophilia, then blood tests to determine the levels of antithrombin, protein C, protein S, and factor V Leiden need to be done.

If the doctor suspects that there is acquired thrombophilia caused by antiphospholipid syndrome, then generally tests for anticardiolipin antibodies (ACA), lupus anticoagulant, and tests for anti-β(2)glycoprotein 1 antibodies will be performed.

Thrombophilia Treatment

Treatment for thrombophilia is done not to eliminate or cure it, but to prevent thrombosis as a complication of thrombophilia.

To prevent thrombosis in blood vessels, generally, doctors will give anti-coagulant drugs, which are a type of blood thinner that functions to prevent the formation of blood clots that can clog blood vessels.

There are various types of anticoagulants. If the patient requires hospitalization, the anticoagulant given is heparin or low molecular weight heparin (LMWH). Heparin is given by infusion or injected under the skin, while LMWH is given by injection under the skin only. Meanwhile, for outpatient cases, anticoagulant tablets such as warfarin or rivaroxaban will generally be given.

The important thing to pay attention to when getting anticoagulant treatment is blood monitoring so that the blood is not too thin, nor too thick. To ensure that the dosage of the drug given is correct, the doctor will ask the patient to check the aPTT and PT levels periodically.

Prevention

Thrombophilia cannot be prevented. However, complications in the form of thrombosis can be prevented by:

• Maintain ideal body weight
• Be active by doing sports (such as jogging, cycling, and swimming) at least five days a week.
• Avoid taking hormonal drugs.
• Avoid secondhand smoke.
• If you have to be in a sitting position for a long time, avoid folding your legs and try to stretch at least once every hour.