What is prothrombin gene mutation?

Prothrombin gene mutation is an inherited condition that increases a person's chance of forming blood clots. It is known as a type of thrombophilia or blood clotting disorder, and is one of the second most common inherited blood clotting disorder. Most people with prothrombin gene mutation never develop abnormal blood clots.

What are the symptoms of prothrombin gene mutation?

Many patients with a prothrombin gene mutation never experience symptoms. If a patient has a clot, he or she may be tested for this and other blood clotting disorders.

Symptoms of blood clots vary depending upon where the clot is located. Blood clots in the brain may cause visual disturbances, weakness, seizures, or speech impairment. Blood clots in the arm or leg may cause sudden pain, swelling, or tenderness. A blood clot in the lung may cause sharp chest pain, rapid pulse, bloody cough, shortness of breath, sweating, or fever. A blood clot in the abdomen may cause severe abdominal pain, vomiting or diarrhea.

How are prothrombin gene mutation diagnosed?

A doctor may suspect the prothrombin gene mutation if a patient has had one or more episodes of thrombosis, or blood clots. Blood tests and genetic tests can identify and confirm the prothrombin gene mutation.

How is prothrombin gene mutation treated?

As with other blood clotting disorders, patients may receive medication to help prevent clotting at high-risk times such as pregnancy, major surgery, prolonged bed rest or inactivity or trauma. They would also require more prolonged courses of treatment after a clotting episode.

Medication may be continued indefinitely. A healthy lifestyle is strongly encouraged as a way to prevent blood clots and other complications.

What outcomes are available at Children's for those diagnosed with prothrombin gene mutation?

The vast majority of children diagnosed and treated for prothrombin gene mutation can expect to live normal lives. The focus for these patients is to prevent blood clots.

About treatment at Children's for prothrombin gene mutation

At Children's Hospitals and Clinics of Minnesota, your child has a team of health care experts to diagnose and treat disorders such as prothrombin gene mutation. Part of that team includes health educators who will help your family recognize the signs and symptoms of a clot so you can seek immediate treatment and prevent serious complications.

Consistent follow-up care can help your child successfully manage this diagnosis over their lifetime.

Contact us

If you are a family member looking for a Children's hematologist/oncologist or wanting to make an appointment, call the outpatient clinic at Children's – Minneapolis at (612) 813-5940

If you are a health professional looking for consultation or referral information, please call Children's Physician Access at 1-866-755-2121 (toll-free).