Prothrombin gene mutation is a clotting disorder that is caused by a mutation in the gene that makes prothrombin.  Prothrombin is a clotting protein that helps the body to make a clot when bleeding occurs. Someone with a mutated prothrombin gene makes too much prothrombin and is at risk for developing a blood clot that gets too big and restricts blood flow.

 

Prothrombin Gene Mutation is an inherited clotting disorder.  The mutated prothrombin gene is passed on from one or both parents.  If one parent passes the gene to their child, it is called heterozygous and the risk for getting a thrombosis is slightly higher than someone without an abnormal gene.  If both parents pass an abnormal gene to their child, it is called homozygous and makes the risk for much getting a thrombosis higher because both genes are affected.

 

What is a thrombosis?
A thrombosis is an abnormal blood clot that has formed inside of any vein or artery and is big enough to restrict blood flow.  They can be dangerous/deadly if a part breaks off and travels to other areas of the body or completely block blood flow.

 

What is a blood clot?
A blood clot is a mass of blood cells, platelets and clotting proteins that is normally made by the body after an injury to stop bleeding.  However, blood clots can also form for other reasons such as poor blood flow, taking certain medications, having other medical conditions that have a high risk for the blood to clot and having other risk factors that increase the risk for the blood to clot.  When a blood clot is made abnormally or grows bigger than normal, it causes a problem with blood flow, preventing the transportation of oxygen.

SIGNS AND SYMPTOMS

There are no specific symptoms of Prothrombin Gene Mutation unless you have a clot.  The most common sites for a blood clot (thrombus) are in the legs (deep vein thrombosis – DVT) and in the chest (pulmonary embolism – PE).  Many people with Prothrombin Gene Mutation never develop thrombosis, yet some have recurrent clotting.   The diagnosis should be investigated in patients with a history of thrombosis and in those with a family history.

Signs And Symptoms of Venous Thrombosis:

  • Cramping pain
  • Redness or discolored skin
  • Swelling
  • Warm of hot to touch

 

Signs And Symptoms of Arterial Thrombosis:

  • Heart attack
  • Chest Pain
  • Shortness of breath
  • Dizziness

 

Signs and Symptoms of Stroke

  • Facial drooping on one side
  • Weakness on one side of body
  • Slurred speech
  • Pain, discoloration (pale or blue) and coldness of arm or leg

 

Signs And Symptoms of Pulmonary Embolism

  • Having a hard time breathing
  • Breathing fast even when resting
  • Cough.  Sometimes coughing up blood
  • Chest pain
  • Pain in the back
  • Pain in the shoulder
  • Feeling weak
  • Paleness or blue color to skin
  • Fast heart beat
  • Sweating, even when resting
  • Feeling light headed

Risk Factors

Adding additional risk factors along with having Prothrombin Gene Mutation further increases the risk of getting a thrombosis.  A thrombosis can be dangerous/deadly if a part breaks off and travels to other areas of the body or completely blocks blood flow.

Risk Factors for Venous Thrombosis:

  • Surgeries
  • Pregnancy
  • Birth control pills
  • Intravenous lines
  • Broken bones
  • Family history (Genetics)
  • Smoking
  • Sitting for long periods
  • Lack of exercise
  • Inflammatory bowel disease
  • Cancer
  • Obesity
  • Infection

 

Risk Factors for Arterial Thrombosis:

  • Hardening of arteries
  • Smoking
  • Poor diet
  • Lack of exercise
  • Obesity
  • High blood pressure
  • High cholesterol
  • Diabetes
  • Alcoholism
  • Strokes
  • Heart attacks
  • Limb damage
  • Damage to organs

Complications

  • Damage to the veins
  • Pain
  • Swelling
  • Ulcer sores
  • Embolism (part of the clot breaking off and moving to lungs, heart or brain)
  • Stroke

 

Who should be tested for Prothrombin Gene Mutation?

  • Someone that has had a blood clot
  • Someone that has had a premature stroke or transient ischemic attacks, also called TIA
  • Someone that had multiple miscarriages or stillbirths

 

Someone with a family history of blood clots or thrombophilia

  • Someone that has had a blood clot
  • Someone that has had a premature stroke or transient ischemic attacks, also called TIA
  • Someone that had multiple miscarriages or stillbirths
  • Someone with a family history of blood clots or thrombophilia

 

Diagnosing Prothrombin Gene Mutation

The only way to know if you have Prothrombin Gene Mutation is to have your blood tested.  This test will determine the presence or absence of the Prothrombin Gene Mutation and distinguishes between the heterozygous (one abnormal gene) and homozygous (two abnormal genes) type. People who need to be tested for Prothrombin Gene Mutation include:

  • Someone who has had a blood clot
  • Someone who has a family member(s) who have had a blood clot or have been diagnosed with Prothrombin Gene Mutation
  • Someone who has had transient ischemic attacks (TIA’s) or premature stroke
  • Someone who has had repeated miscarriages or stillbirths