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What is a Clotting Disorder (Thrombophilia)?

What is a Clotting Disorder (Thrombophilia)?

While normal blood clot formation is necessary for healing wounds and cuts, unwanted clots may cause life-threatening complications. Here is a brief overview of thrombophilia, a collective term used to denote blood clotting disorders.
Rahul Thadani
Last Updated: Feb 2, 2018
The human body automatically creates a blood clot at the opening of a wound so that the bleeding stops. Failure to form these clots can lead to excessive bleeding, and this has many dire consequences. In some people, blood clots are formed in the bloodstream, when they are not required. Such unwanted clots can block arteries and veins, thereby disrupting blood circulation inside the body.
Blood clots are formed when proteins and platelets stick together. The process, which is known as coagulation (hemostasis), is highly vital for the human body. Formation of blood clots stops bleeding through cuts and wounds and fastens healing. The blood has various chemicals that trigger clotting. At the same time, there are certain chemicals that inhibit clot formation. So, the body maintains a proper balance between these two groups of chemicals, so as to prevent excessive or inadequate clotting. While inadequate clotting can result in excessive bleeding, excessive clotting can cause conditions like deep vein thrombosis and pulmonary embolism. Excessive clotting could be due to a high level of clotting factors, or a low level of anti-clotting factors.
In some people, the blood has an increased tendency to form clots. This abnormality is called thrombophilia, which encompasses a group of conditions, wherein there is an increased risk of forming unwanted blood clots (thromboses). Given below is a brief overview of such clotting disorders.
Causes
Thrombophilia can be congenital or acquired. So, thrombophilic disorders can be genetic, and it means that the affected person can be born with such conditions. They can be acquired, as these disorders may develop at a later stage due to various causes. Some people may develop such disorders without any specific cause. Here is a list of congenital blood clotting disorders, along with some acquired conditions that increase the risk of thrombophilia.
Genetic Disorders
  • Factor V(5) Leiden
  • Prothrombin mutation
  • Protein C and Protein S deficiency
  • Antithrombin deficiency
  • Elevated homocysteine
  • Elevated lipoprotein(a)
  • Elevated factor VIII, IX, and XI
Acquired Disorders
  • Antiphospholipid Syndrome
  • Paroxysmal nocturnal hemoglobinuria
  • Heparin-induced thrombocytopenia
  • Cancer, especially metastatic ones
  • Some cancer medication
  • Central venous catheters (as used in chemotherapy)
  • Recent surgery or trauma
  • Nephrotic syndrome
  • Inflammatory bowel disease
  • Hormone replacement therapy
  • Use of supplemental estrogen (as in birth control pills)
Apart from these, obesity and reduced physical activity are also linked with an increased risk of developing blood clotting diseases. When a person is inactive for a long period of time, the chances of developing blood clots in the body are higher. Air travel for long durations may also increase the risk of unwanted blood clot formation, and the condition is termed 'economy class syndrome.' Pregnancy is another factor that increases the risk of unwanted clot formation, as it is said that a woman's blood clotting ability increases by six times when she is pregnant.
While those with thrombophilia have an increased tendency to form blood clots, those with hemophilia have an increased tendency to bleed. Hemophilia is classified into three different types, namely hemophilia A, B and C respectively. Hemophilia A is characterized by factor VIII deficiency. Those with hemophilia B have factor IX deficiency. Those with hemophilia C have factor XI deficiency.
This is only a brief overview of blood clotting disorders that are characterized by an increased risk of unwanted blood clot formation. There are various types of tests to diagnose these medical conditions. Those with a family history of blood clotting diseases must consult their physician and get such tests done. In case of an underlying cause, that has to be treated to reduce the risk of such clot formation. Otherwise, anticoagulation medications are prescribed. However, such drugs pose a risk of bleeding. So, the healthcare provider decides the course of treatment, according to the condition of the patient.
Disclaimer: This article is for informational purposes only, and should not be used as a replacement for expert medical advice. Visiting your physician is the safest way to diagnose and treat any health condition.
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