A Guide to Understanding the Genetic Risk Factors, Symptoms and Treatment for Deep Vein Thrombosis

Deep vein thrombosis (DVT) is a medical condition characterised by the formation of blood clots within the deep veins in the body, often in the legs. When this happens, the clot can obstruct blood flow, and cause pain, swelling and other complications. Aside from this, the clot can break loose and travel to the lungs where it can cause a pulmonary embolism. This is potentially life-threatening and as a result, DVT is extremely dangerous.

While it can occur for various reasons, including lifestyle factors, injuries or surgeries, there is a genetic element at play. In this article, we will explore the genetic risk factors associated with DVT, offer insights on how to recognise the symptoms and discuss various DVT treatments.

Genetic risk factors

One of the most well-known risk factors for DVT is the Factor V Leiden mutation. Individuals with this mutation have an increased tendency to form blood clots because their blood contains a mutated form of a clotting protein called ‘Factor V’. This can be inherited from one or both parents and ultimately increases the risk of DVT significantly.

The Prothrombin gene mutation is another genetic risk factor. This causes increased production of a clotting protein called prothrombin and the elevated levels mean there is often an elevated risk of DVT.

Similarly, the MTHFR gene mutation can cause problems like this. This mutation affects the metabolism of folate and homocysteine in the body. Elevated levels of the latter have been linked to a higher risk of DVT.

Another common risk factor is a deficiency in antithrombin, protein C and protein S. These are natural anticoagulant proteins which play a crucial role in regulating blood clot formation. A lack of them can predispose individuals to DVT, as it can result in excessive clotting.

Aside from these specific conditions, a family history of deep vein thrombosis or a history of other clotting disorders may put you at a higher risk. If one or more relatives have experienced something like this, you should let your doctor know and discuss mitigation strategies with them.

Other risk factors for DVT

Genetics and family history are not the only influences when it comes to DVT. Several other factors can influence the likelihood of developing it, including prolonged immobility, surgery or trauma. If you are stationary for long periods of time, such as during bed rest or a long-haul flight, your risk of DVT could increase. Surgical procedures, particularly those involving the lower limbs or pelvis are a well-known risk factor too. They disrupt blood flow and as a result, can lead to clot formation. Similarly, injury to any arteries or veins in these areas can increase the risk.

Non-genetic medical conditions such as cancer, heart disease and inflammatory disorders can increase the chance of DVT. Interestingly, periods of significant hormonal change such as pregnancy, postpartum and hormone therapy can also affect blood clotting which may affect your chances of a blood clot.

Those who are overweight or obese are also at a higher risk. These conditions negatively impact your vascular health and circulation by putting excessive pressure on the system, meaning you’re at a higher risk for DVT.

Symptoms of deep vein thrombosis:

If you are genetically predisposed to deep vein thrombosis it’s important to know what symptoms to look out for. It typically causes pain or tenderness in the affected area, similar to that of a leg cramp.

You may also notice swelling in the leg, usually in the calf or the thigh and the area may also appear red and feel warm to the touch.

A sense of fatigue in the affected limb is also a symptom; if it feels difficult to lift or move it, this may indicate DVT.

Sometimes, the veins in the leg or the affected area may become more visible or prominent. If this is unusual for you, or you are experiencing some of the other symptoms mentioned above, then you should contact a healthcare professional immediately. Prompt treatment is important and it can prevent the clot from becoming more extensive or dislodging.

DVT and vein treatment in Melbourne

Doctors and specialists may treat this in a number of ways, all of which aim to prevent new clots from forming and reduce the risk of complications. Treatment could include anti-coagulant medications such as heparin and warfarin which help existing clots to dissolve.

Compression stockings may also be used to promote circulation and improve blood flow, while elevation can reduce swelling and discomfort.

More serious forms of dvt treatment include thrombolytic therapy which dissolves clots quickly or the insertion of  an inferior vena cava filter, which prevents clots from travelling to the lungs. It is important to seek immediate advice from a vascular surgeon to determine if this treatment is required for you. Treatments to clear large DVT can help prevent long term complications of DVT, but treatments must be initiated within 2 weeks of developing the DVT. Therefore, early referral is essential.

For individuals seeking vein treatment in Melbourne, there are many specialised clinics and medical facilities that provide comprehensive care. Vascular surgeons, radiologists, specialised nurses and other professionals can also help you establish whether or not you possess any of the genetic risk factors through an assessment.

Whether you are naturally predisposed to this condition or not, you should be aware of the symptoms and know what to do if you experience them. Consult your healthcare provider if members of your family have experienced DVT in the past and establish a contingency vein treatment plan.

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