Thrombophilia
What is Thrombophilia?
Thrombophilia is a disorder that increases a person’s risk of developing abnormal clotting, or thrombosis, in the veins or arteries. The resulting blood clots can travel through the circulatory system and become lodged in blood vessels, cutting off circulation to vital organs.
Individuals afflicted with the disorder fall into one of two categories: inherited or acquired. Those with inherited thrombophilia have a mutation in the genes that are responsible for making the components of blood clots, whereas those with acquired thrombophilia have an underlying condition that makes them predisposed to forming abnormal clots.
Thrombophilia is a disorder that increases a person’s risk of developing abnormal clotting, or thrombosis, in the veins or arteries. The resulting blood clots can travel through the circulatory system and become lodged in blood vessels, cutting off circulation to vital organs.
Individuals afflicted with the disorder fall into one of two categories: inherited or acquired. Those with inherited thrombophilia have a mutation in the genes that are responsible for making the components of blood clots, whereas those with acquired thrombophilia have an underlying condition that makes them predisposed to forming abnormal clots.
The prevalence of Type I thrombophilia is rare, with 0.2% of the general population having Antithrombin III deficiency and 0.2% of the general population having Protein C deficiency. The exact prevalence of Protein S deficiency is not known but is likely to be even less than the other 2 forms of Type I thrombophilia.
The prevalence of Type II thrombophilia is much more common. 5% of the population of Northern European descent carry the Factor V Leiden mutation. 1-4% of the general population carries the prothrombin mutation. Type II thrombophilia is uncommon amongst those of Asian or African descent.
Normally, when the body is injured and there is damage to blood vessels, the body protects itself against bleeding out by forming clots. Clots are formed through a series of chemical reactions between platelets (a type of blood cell) and coagulation factors (proteins in the blood). Normal clot formation is localized to the area of blood vessel injury and should stop once the blood vessel stops leaking. If the process does not work correctly, or either the platelets or clotting factors are off balance, the clot can break off into circulation and block blood flow to surrounding tissue.
Individuals with inherited thrombophilia are classified with either Type II or Type I defects. Type II thrombophilia is from mutated genes that results in overactivity of coagulation factors and is the more milder of the two. Examples of Type II thrombophilia are Factor V Leiden (mutation in the F5 gene at position 1691) and prothrombin G20210A (mutation in the 3’ untranslated region at position 20210). Type I thrombophilia is from mutated genes that results in a deficiency of anticoagulants and is the more severe form of the two. Examples of Type I thrombophilia are Antithrombin III deficiency, Protein C deficiency and Protein S deficiency.
Individuals with acquired thrombophilia have an underlying condition. That underlying condition, such as surgery, heart disease or respiratory problems, results in prolonged immobilization and a slowing down of the circulation. The body responds by developing antiphospholipid antibodies that travel in the blood and attacks the body’s own cells, causing blood clots.
People with thrombophilia don’t have any direct symptoms of the disease, and many may never have any health problems related to thrombophilia. Symptoms only occur if the thrombophilia results in thrombosis. For example, if the clot lodges in the large veins of the individual’s leg, it leads to pain and swelling in the leg, resulting in what is known as deep vein thrombosis (DVT). If the clot breaks away and travels to the arteries supplying the lungs, it results in chest or back pain, shortness of breath and lightheadedness. This is known as pulmonary embolism (PE).
A correct diagnosis can only be made by a medical professional. Once a thrombotic event occurs, the patient will undergo blood tests to detect if there is a chemical imbalance. If there is a strong family or personal history of thrombosis, it is recommended those individuals undergo further genetic testing to see if there is a mutation causing thrombophilia. For a patient to be diagnosed with inherited thrombophilia, they must have 2 abnormal test results and a family history.
Many patients who have thrombophilia may never develop thrombosis or need treatment. There is no specific treatment for thrombophilia, but recurrent episodes of thrombosis will require long-term preventative anti-coagulation therapy. Fast acting injectable heparin and warfarin tablets are the most common anti-coagulants. Several newer oral anti-coagulants have recently entered the market.
Individuals with Type II thrombophilia (such as Factor V Leiden or prothrombin) are at a low risk of thrombosis, but it may develop in the presence of other risk factors, such as immobilization. 60% of individuals with Antithrombin III deficiency will develop thrombosis at some point in their lives. 50% of individuals with Protein C deficiency and 30% of individuals with Protein S deficiency will develop thrombosis at some point in their lives.
Individuals with thrombophilia are at a greater risk of developing blood clots. As a precaution, these individuals should lose weight if they are overweight, stop smoking, and avoid being immobile for long periods of time. For those individuals who are at high risk for thrombophilia, they may want to take warfarin on a long-term basis to reduce the risk of DVT or PE.
https://www.nhs.uk/conditions/thrombophilia/#
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1592479/pdf/1477-9560-4-15.pdf
https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia
https://ghr.nlm.nih.gov/condition/protein-s-deficiency
https://ghr.nlm.nih.gov/condition/protein-c-deficiency
https://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia
https://ghr.nlm.nih.gov/condition/antiphospholipid-syndrome
https://rarediseases.org/rare-diseases/antiphospholipid-syndrome/
https://rarediseases.org/rare-diseases/antithrombin-deficiency/
https://rarediseases.org/rare-diseases/protein-c-deficiency/
https://rarediseases.org/rare-diseases/protein-s-deficiency/
https://www.stoptheclot.org/news/the-genetics-of-thrombophilia/
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Visit sanfordresearch.org/CoRDS to enroll.
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