Deep vein thrombosis

Deep vein thrombosis is a condition that occurs when a clot or thrombus forms in a vein deep inside a part of the body. It mainly affects the lower extremities, but can occur anywhere in the body. If the clots or thrombi travel through the bloodstream, they can deposit in the lungs leading to pulmonary embolism, a serious and potentially fatal condition.

Risk factors that can lead to clot formation include:

  • Bed rest or maintaining a static posture for a long time such as, for example, on a long airplane trip.
  • Family history of blood clots.
  • Fractures in the pelvis or legs.
  • Having given birth in the last 6 months.
  • Pregnancy.
  • Obesity.
  • Recent surgery, especially hip or knee surgery.
  • Having an indwelling catheter in a blood vessel.
  • Some pathologies such as polycythemia vera, some types of cancer or autoimmune disorders.
  • Smoking.
  • Some medications such as oral estrogens.

Symptoms

The disorder mainly affects the large veins of the lower extremities, although many people have no symptoms. Among the symptoms that may occur are:

  • Swelling of the leg (edema).
  • Pain in the leg that may only be felt when standing or walking.
  • More warmth in the area of the leg that is swollen or painful.
  • Redness or changes in skin color.

Occasionally, the symptoms that occur are associated with complications such as pulmonary embolism, a potentially serious condition characterized by shortness of breath, pain when taking a deep breath or coughing up blood.

Prevention

Generally speaking, the most effective preventive measures include elevation of the legs, early mobilization and the use of anticoagulants. More specifically:

  • Starting to move as soon as possible after having been bedridden for a while, following surgery or illness.
  • Use of compression stockings if you are a person at risk.
  • Use of anticoagulant medications in people at higher risk.
  • On long journeys, get up and walk around every 1-2 hours, wear loose clothing and keep your legs moving while sitting.
  • Healthy lifestyle, maintaining a healthy weight, regular exercise and a diet rich in fruit, vegetables and whole grains.

Number of observed variants

13.5 million variants

Number of risk loci

7 loci

Genes analyzed

ABO EDEM2 F11 F2 F5 FGG SLC2A6 TSPAN15 ZFPM2

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