What is Thrombophilia?
Thrombophilia is an inherited or acquired condition in which blood clots more easily than normal. It can lead to serious health problems such as deep vein thrombosis, pulmonary embolism and pregnancy complications.
Thrombophilia is a condition in which blood clots more easily than normal inside the vessels. It can be inherited (genetic) or acquired (developed later). Inherited thrombophilia results from gene mutations passed down in families and is a lifelong risk factor for the individual.
Under normal conditions, the blood clotting system is a complex balance that kicks in to stop bleeding. In thrombophilia this balance breaks down: either clot-promoting factors are overproduced, or the natural inhibitors that prevent clotting become insufficient.
Inherited Thrombophilia Types
The main thrombophilia mutations and deficiencies detectable by genetic testing
Factor V Leiden Mutation
The most common cause of inherited thrombophilia. It causes activated protein C resistance and occurs in 3-8% of the general population.
Prothrombin G20210A Mutation
A prothrombin gene mutation that increases the blood clotting tendency. The second most common inherited cause.
MTHFR Mutations
The C677T and A1298C variants affect homocysteine metabolism. High homocysteine levels may increase thrombosis risk.
Protein C / Protein S Deficiency
Deficiency of natural anticoagulant proteins leads to uncontrolled activation of the clotting cascade.
Antithrombin III Deficiency
A rare inherited condition associated with serious thrombosis risk. It can cause heparin resistance.
Symptoms and Complications
Thrombophilia is usually silent but can lead to the following conditions
Deep Vein Thrombosis (DVT)
Usually manifests as pain, swelling, redness and warmth in the legs.
Pulmonary Embolism
Sudden shortness of breath, chest pain and cough. A serious condition requiring emergency treatment.
Pregnancy Complications
Recurrent miscarriage, intrauterine growth restriction, preeclampsia and preterm birth risk.
Superficial Thrombophlebitis
Inflammation and clotting of superficial veins. Presents with pain and swelling.
Risk Factors
A thrombophilia test is recommended if one or more of the following are present
Acquired Thrombophilia
Antiphospholipid Syndrome
An autoimmune disorder and the most common acquired cause of recurrent thrombosis and pregnancy complications. It is diagnosed with anticardiolipin antibody and lupus anticoagulant tests.
Other Acquired Causes
- Prolonged immobilization
- Major surgical operations
- Hormonal therapies (OCP, HRT)
- Malignancy
- Pregnancy and postpartum period
Early Diagnosis Saves Lives
Thrombophilia usually stays silent until the first thrombotic event. With genetic tests you can learn your risk in advance and take the necessary precautions together with your physician.
Learn About the TestsWould You Like to Get a Thrombophilia Test?
At Omega Genetics Laboratory, we're here for you with our expert team and modern infrastructure in the diagnosis of genetic clotting disorders. Your results are ready in 7-10 business days.
This site is prepared for general informational purposes. It does not constitute a diagnosis or treatment recommendation. Always consult your physician about your health condition.
This site is prepared for general informational purposes. It does not constitute a diagnosis or treatment recommendation. Always consult your physician about your health condition.