Definition and Overview

Also referred to as thrombophilia or hypercoagulation state, a blood clotting disorder is a medical condition involving excessive clotting even in areas where it should not occur such as in the blood vessels, resulting in life-threatening conditions.

Clotting is the body’s natural way to prevent massive blood loss.

Injuries, childbirth, and even dental extractions can result in bleeding. For people with bleeding disorders such as hemophilia, these can result in excessive hemorrhage.

In general, a type of blood cell that circulates in the body called platelets proceeds to the site and gathers there until they all form a plug. The clotting process is medically known as coagulation. To make sure that these platelets stick together, protein factors also participate in the action.

Once the clot has formed and the bleeding has stopped, the clot is reabsorbed by the body and scar tissues are found.

For those with blood clotting disorders, the platelets tend to coagulate even in times when there’s no bleeding. They may also not be absorbed completely by the body. In some cases, the clots travel in the bloodstream and then anchor themselves in blood vessels and walls found in other areas including the lungs and the brain.

Causes of Condition

  • Factor V Leiden - Factor V is one of the protein factors that are responsible for clotting. For those with this genetic condition, their bodies are unable to “turn off” the protein factor, resulting in excessive clotting. The severity of the blood clotting disorder depends on the number of the affected genes. If a child has only 1 affected gene, the blood clotting risk is about 8 times more than the general population. However, it increases up to 80 times if the person has two affected genes. Patients who are diagnosed with this problem are also susceptible to deep vein thrombosis (DVT), in which the clots develop in the veins, especially those found in the legs. They may also be detected in major organs such as the kidneys, liver, and the brain.

  • Deficiency in Protein S and C – These proteins are necessary to prevent the formation of blood clots in the bloodstream or while the blood cells are still traveling through the blood vessels. However, a genetic mutation may prevent the sufficient production of these proteins, increasing the risk of excessive blood clotting up to 20 times. Although this problem can begin in childhood, most often, the blood clots manifest during adulthood.

  • High Homocysteine Levels – Homocysteine is an amino acid that is produced by the body using methionine, which is derived from fish, dairy, and meat. The component is converted into homocysteine once it enters the bloodstream. With the help of vitamin B6, homocysteine is converted to cysteine, an amino acid that is responsible for keeping the configuration of proteins that are found inside the body cells.

However, for some reasons, which can also be caused by genetics, the body fails to convert homocysteine to cysteine or it reverts to methionine. In the end, there’s an elevated level of homocysteine, also known as hyperhomocysteinemia, which then increases the risk of blood clots, as well as stroke and heart attack.

The risk of developing blooding clotting disorders can increase due to the following factors:

  • Obesity – Until today, health experts still don’t know how obesity increases the risk of blood clotting, but they believe that sedentary lifestyle, immobility, and changes in the blood chemistry, among others, can establish the link.

  • Birth Control Pills – Birth control pills increase estrogen levels in the body. However, they also boost the production of the coagulation factors, thereby increasing the risk of blood clotting.

  • Atherosclerosis – This refers to the hardening of the arteries due to plaque buildup. Plaque deposits have caps that can eventually rupture. When this happens, the body reacts by sending platelets and coagulation factors to the site to repair the tear. This then leads to the formation of blood clots, which can further narrow the passage of blood.

Key Symptoms

  • The presence of deep vein thrombosis
  • Miscarriage, especially during the second and third trimester
  • Hypertension during pregnancy
  • Warmness of the skin just above the clot
  • Skin redness
  • Shortness of breath
  • Feeling lightheaded
  • Coughing
  • Pain in the upper back or chest
  • Fainting
  • Swollen legs
  • Stroke at an early age

Who to See and Treatments Available

There are many different types of doctors who can diagnose, treat, and manage blood clotting disorders. For more complex situations or when the cause is genetic, general practitioners may refer the patients to a hematologist, or a doctor who specializes in blood. For those who have blood clots in the circulatory system, a cardiologist can help. If they are present in the kidneys, for example, a nephrologist is needed.

Diagnosis of thrombophilia requires various examinations such as:

  • Genetic testing
  • Blood tests
  • Physical exam
  • MRI scan
  • Venography
  • Ultrasound
  • CT scan

If the condition is considered mild, especially if there are still no blood clots present, a patient may not need any form of treatment, although it’s necessary that the progression of the disease is monitored. The first objective is to ensure that blood clots won’t be excessive and that they won’t cause harm to the organs of the body.

For those who already have blood clots or are considered at risk, they are usually provided with anti-coagulants. Also called blood thinners, these are medications that prevent the protein factors and platelets to bind to form blood clots. Some of the popular types are heparin and warfarin. While there are benefits, there are also risks, including the possibility of having a bleeding disorder. Thus, the patient should work closely with the doctor to monitor the effectiveness and use of the medication.

In case of an emergency, doctors can provide thrombolytics, which are fast-acting medications against blood clot. The clot may also have to be broken away using a catheter.

References:

  • Schafer AI. Thrombotic disorders: hypercoagulable states. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 179
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