Prothrombin Gene Mutation (Also called Prothrombin Variant)
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 toomuch 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.
Symptoms
There are no specific symptoms of Prothrombin Gene Mutation unless you have a thrombosis. The most common spots for a thrombosis is in the legs. Thrombosis that move to the lungs is called pulmonary embolism and extremely dangerous.
Symptoms of a deep vein thrombosis include:
- Cramping pain
- Redness or discolored skin
- Swelling
- Warm of hot to touch
Symptoms of an arterial thrombosis include:
- Heart attack
- Chest Pain
- Shortness of breath
- Dizziness
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
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 for Thrombosis
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 a deep vein thrombosis include:
- 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 an arterial thrombosis include:
- 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
