Thrombophilia: Causes, Symptoms, Treatment, Diagnosis

Thrombophilia is a pathological condition of the circulatory system in which an individual affected by it has an increased tendency to form blood clots. Thrombophilia can be both congenital as well as acquired and can range from mild to extremely severe.

Congenital Thrombophilia is usually inherited and is caused due to genetic defects and is present since the time of birth whereas Acquired Thrombophilia occurs much later in life and is usually caused by medical conditions arising out of autoimmune disorders, hormonal imbalances, and other medical condition that cause reduced blood blow through the veins and arteries.

Under normal circumstances, blood clots form whenever there is a superficial injury to a blood vessel like a cut or a wound which starts off a clotting mechanism to repair the injury to the blood vessel. This is what is called as a clot. When these clots start to form without any apparent injury to a blood vessel this tends to result in what is called as a clotting disorder. This increased tendency to form clots is what is termed as Thrombophilia.

Symptoms of a blood clot range from swelling in the affected region to pain. These clots usually occur in the deep veins of the legs and give rise to a condition called Deep Venous Thrombosis. This will cause the legs to become heavy, painful and swollen.

In some cases, this clot tends to break free and gets lodged in the lungs causing yet another serious condition called pulmonary embolus. This is a medical emergency and requires immediate medical attention. Chest pain and shortness of breath are the presenting symptoms for a pulmonary embolus.

A blood test conducted on the individual who is supposed to have Thrombophilia will yield increased clotting tendency proving the diagnosis. Anti-clotting medications are the most preferred medications to treat Thrombophilia.

Pregnant females are most at risk for complications due to Thrombophilia as it may lead to miscarriage and in some cases stillbirth and should diligently use anti-clotting agents provided by their healthcare providers to prevent any complications due to Thrombophilia.

As stated, there are two form of Thrombophilia, congenital and acquired. The causes of congenital form of Thrombophilia are inherited genetic defects which result in deficiency of certain protein which increase the tendency of the affected individual to form blood clots. These proteins are antithrombin III deficiency, and protein C and S deficiency.

Some form of inherited Thrombophilia may occur due to certain defects that affect the factors which contribute to free flow of blood resulting in increased incidences of clot formation causing Thrombophilia. Factor V Leiden is the most common cause of inherited form of Thrombophilia.

When it comes to acquired form of Thrombophilia, there are certain medical conditions which increase the risk for an individual to have Thrombophilia. These medical conditions are

• Antiphospholipid Syndrome: This is an autoimmune condition which affects the blood clotting mechanism thus causing increased tendency for the blood to clot and resultant Thrombophilia.
• Heparin-Induced Thrombocytopenia: This is yet another autoimmune disorder in which there is a immune reaction against heparin which is an anti-clotting medication resulting in Thrombophilia
• Myeloproliferative Disorders: These are medical conditions in which the bone marrow starts to produce excessive blood cells like RBCs and platelets which make the blood potentially thicker and slows down the flow of blood ultimately resulting in the blood to form clots causing Thrombophilia.
• Cancer: This medical condition also promotes blood clotting and tends to cause Thrombophilia
• Pregnancy: This increases an individual’s tendency towards clotting.
• Obesity: Being overweight is yet another common cause for an individual to have increased tendency towards clotting and ultimately having Thrombophilia.

The first presenting symptoms of Thrombophilia are shortness of breath and pain along with swelling. The symptoms due to Thrombophilia are only produced whenever there is formation of clots. The most common disorders which produce abnormal blood clots are Deep Venous Thrombosis and Pulmonary Embolus.

The symptoms of a DVT are pain, swelling, and redness in the affected leg. If the clot frees itself and gets lodged in the lungs causing pulmonary embolus then the symptoms experienced by the individual will be sudden difficulty breathing, chest pain, palpitations.

Pulmonary embolus is a medical emergency and needs immediate treatment and thus if an individual with Thrombophilia experiences such symptoms then it is highly recommended that the individual goes to the nearest emergency room for treatment.

Thrombophilia may not be diagnosed until there is formation of an abnormal clot causing symptoms which requires medical attention. If an individual has an unexpected clot then a detailed history of the patient will be taken along with a close physical examination. If Thrombophilia is suspected, investigational studies will be performed in the form of blood tests and if the tests are positive for Thrombophilia then a referral to a hematologist will me made. Some of the tests used to diagnose Thrombophilia are:

• CBC: This will evaluate the amount of RBCs, WBCs, and platelets. It will also show whether the blood is thicker than normal which in case of acquired Thrombophilia will be thicker.
• Prothrombin Time: This will measure the time it takes for the blood to clot
• Lupus Anticoagulant: This test will determine the presence of antibody thought to be involved with Thrombophilia
• Anticardiolipin Antibody: The test will detect the presence of this antibody which is also known to cause Thrombophilia
• Protein C Resistance Test: If this test is positive then it will suggest that the patient has factor V Leiden form of Thrombophilia.

All these above tests will confirm the diagnosis of Thrombophilia.

Very mild cases of Thrombophilia may not require treatment at all whereas if an individual is at significantly increased risk of clotting then anticoagulant medications may be prescribed so as to clear an existing clot and prevent any future clots.

The most preferred anticoagulants are warfarin and heparin and are most effective in treatment of Thrombophilia. Warfarin is given orally whereas heparin is given through an injection.

Once an individual has started anticoagulant therapy for Thrombophilia then frequent blood tests will be required to ensure that the individual is getting the most appropriate dose of the medication as an increased dose of medication may put the individual at risk for easy bleeding which itself is a complicated problem. Thus it is very essential for close observation while on anticoagulant therapy during the treatment of Thrombophilia.

References: