The prothrombin gene mutation increases your risk of severe blood clots. Medications, regular checkups, and healthy lifestyle habits can help reduce this risk.
The prothrombin gene plays a crucial role in your body’s ability to form blood clots. This gene instructs your cells to make prothrombin, a protein that is essential for blood clotting.
A single mutation (change) in the prothrombin gene can lead to an increased risk of developing unhealthy blood clots. This can cause potentially life threatening health issues such as deep vein thrombosis (DVT) or pulmonary embolism (PE).
Read this article to learn what a prothrombin gene mutation diagnosis may mean for your health.
The prothrombin gene mutation
The mutation follows an autosomal dominant inheritance pattern. This means that if you inherit the mutated gene from just one parent, you are at an increased risk of developing blood clots.
Heterozygous prothrombin gene mutation
Most people with a prothrombin gene mutation are heterozygous, meaning they inherited the mutation from just one parent. Only one of their two copies of the prothrombin gene is affected, while the other is fully functional.
If you’re heterozygous, you have a higher risk of developing blood clots as compared with people without the gene mutation. But most people with only one mutated copy of the prothrombin gene
Homozygous prothrombin gene mutation
If you inherit the prothrombin gene mutation from both parents, both of your copies of the gene are affected. This makes you homozygous for the mutation.
Being homozygous increases your risk of developing blood clots significantly more than if you were heterozygous. Being homozygous for a gene mutation is much less common than being heterozygous.
To diagnose a prothrombin gene mutation, a healthcare professional will order a blood test to look for the specific mutation in your DNA.
They’ll usually recommend this test if you have a history of severe blood clots, especially at a young age or in unusual locations, or if you have a family history of blood clotting disorders.
How common is prothrombin gene mutation?
Prothrombin gene mutations are most common among people of European ancestry. Heterozygous mutations affect 2% to 4% of people with this background, according to the National Blood Clot Alliance.
The mutation is much less common in other ethnic groups, such as African American, Asian, and Native American people.
The homozygous type is very rare. According to a 2004 research review, it affects about
The prothrombin gene mutation itself doesn’t cause symptoms, but it increases your risk of developing blood clots. Possible complications include:
- DVT: DVT is a blood clot that forms in a deep vein, usually in your leg. Symptoms can include pain, swelling, and skin discoloration in the affected limb.
- PE: PE is a life threatening condition that occurs when a blood clot breaks loose and travels to your lungs, causing chest pain and shortness of breath.
The risk of blood clots naturally increases during pregnancy as a result of changes in hormone levels and blood flow. If you have a prothrombin gene mutation, your risk is even higher. This can lead to complications
- pregnancy loss (miscarriage or stillbirth)
- dangerously high blood pressure (preeclampsia)
- preterm labor
- slow growth of the fetus
If you’re pregnant or planning to become pregnant, it’s important to discuss your prothrombin gene mutation with a doctor. They may recommend preventive measures to reduce your risk of complications.
Read more: “The Risks of Prothrombin Gene Mutation in Pregnancy”
What else can increase blood clot risk in people with the prothrombin gene mutation?
Your risk of blood clots isn’t just about genetics. Certain medical conditions and other factors can further increase your risk, including:
- surgery
- smoking
- hormone therapy
- use of birth control pills
- prolonged immobility (such as long flights or bed rest)
- obesity
Treatment for a prothrombin gene mutation focuses on reducing your risk of developing blood clots. This may involve:
- Anticoagulants (blood thinners): Anticoagulants can help prevent clots from forming.
- Lifestyle changes: If applicable to you, changes such as taking steps to manage your weight, quitting smoking, and staying active can help lower your risk.
- Monitoring: Regular checkups and blood tests are essential to monitor your clotting risk.
Your treatment plan will depend on your specific risk factors and whether you’ve already had blood clots.
With proper management, many people with a prothrombin gene mutation live typical lives without ever experiencing blood clots.
Still, it’s important to be aware of your risk level and take preventive measures seriously. If you follow a doctor’s advice and do your best to maintain healthy lifestyle habits, you can significantly reduce your risk of complications.
Is there a cure for prothrombin gene mutation?
Currently, there’s no cure for prothrombin gene mutation. But managing your risk factors and following a treatment plan can help you prevent blood clots and complications.
Is prothrombin gene mutation a risk factor for stroke?
According to some studies, the prothrombin gene mutation
How likely am I to pass the prothrombin gene mutation on to my children?
If you have a prothrombin gene mutation, there’s a
A prothrombin gene mutation can increase your risk of blood clots. But with the correct information and regular monitoring, you will likely never experience blood clots.
By understanding your mutation status, maintaining healthy lifestyle habits, and working closely with a doctor, you can help prevent blood clots. If you’re concerned about your risk, talk with a healthcare professional about testing.