What is thrombophilia, thrombosis and thromboembolism
Thrombophilia is the genetic predisposition for thrombosis which is the abnormal formation of blood clots (thrombus) inside blood vessels
Under normal circumstances, the body uses platelets (thrombocyte) and fibrin (Factor la) to form blood clots in order to prevent blood loss in case of blood vessel injury. However, genetic mutations may cause blood clots to be formed even when the blood vessels are not injured which obstruct the circulation of blood.
There are two types of venous blood clots: Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE)
DVT is a blood clot formed in one of the large veins in your leg that travel through the muscles of the calf and thighs. When a DVT forms, the blood flow in the vein becomes partially or completely blocked by the blood clot.
The thrombus often dislodges from the deep vein and travels in the blood until it becomes stuck in a narrow blood vessel in the lungs. This is a serious condition, called pulmonary embolism (PE), which together with DVT is collectively referred to as venous thromboembolism (VTE). Thrombosis may also occur in the veins of the brain, liver, kidney or arms. One in every three patients who suffers from PE will die.
Signs and symptoms of DVT and PE
DVT is often difficult to diagnose, and may be confused with less serious conditions. DVT manifests as a painful swelling, most often in the lower limbs, but it may also be, for example, a swelling in the hand, head or neck. Symptoms manifest with varying degrees of intensity, depending on how much of the blood vessel is "blocked" by the blood clot (thrombus). For example, swelling of the lower limbs is accompanied by pain. Other symptoms include tenderness of the calf muscle, reddish or bluish skin discoloration and the leg being warm to touch.
Sometimes there may be no symptoms of PE at all, which is why it is sometimes referred to as 'the silent killer'. The most common symptoms of PE include a sudden shortness of breath, sharp or stabbing chest pain, rapid heart rate, cough, a mild fever and feeling faint or completely collapsing.
In rare cases, thrombosis can occur in the region of the abdominal cavity, manifesting as acute abdominal pain, or thrombosis of blood vessels in the eye with impairment of vision.