Rare Pediatrics News

Disease Profile

Prothrombin-related thrombophilia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Prothrombin 20210G>A thrombophilia; Hyperprothrombinemia; Prothrombin G20210A thrombophilia;

Summary

Prothrombin-related thrombophilia affects the way the blood clots. Individuals who have a thrombophilia have an increased risk to form abnormal blood clots in blood vessels. Symptoms of prothrombin-related thrombophilia include a higher than average risk to develop blood clots in the deep veins of the legs (deep venous thrombosis) and blood clots in the lungs (pulmonary embolism). Many people with prothrombin-related thrombophilia never develop abnormal blood clots. This condition is caused by a particular genetic variant (written G20210A or 20210G>A) in the F2 gene and is inherited in an autosomal dominant pattern. Prothrombin-related thrombophilia is diagnosed based on the symptoms, physical exam, blood tests, and imaging studies. The diagnosis may be confirmed by the results of genetic testing. Treatment is focused on preventing blood clots and may include blood thinning medications.[1][2]

Symptoms

The following list includes the most common signs and symptoms in people with prothrombin-related thrombophilia. These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms of prothrombin-related thrombophilia may include:

  • Blood clot in the deep veins in the legs (deep vein thrombosis)
  • Blood clot in the lungs (pulmonary embolism)
  • Multiple or recurring blood clots
  • Blood clot before the age of 50
  • Blood clot during pregnancy

Many people with prothrombin-related thrombophilia have no symptoms and never have a blood clot. Factors that may increase the risk for getting blood clots in people with this condition include underlying medical conditions, use of oral contraceptives, and having a family history of blood clots.[1][2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Cerebral venous thrombosis
Blood clot in cerebral vein
0005305
Childhood onset
Symptoms begin in childhood
0011463
Deep venous thrombosis
Blood clot in a deep vein
0002625
Pulmonary embolism
Blood clot in artery of lung
0002204
Recurrent thrombophlebitis
0004419
Thromboembolism
0001907

Cause

Prothrombin-related thrombophilia occurs when the F2 gene is not working correctly.
DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all. One specific genetic variant, 20210G>A in the F2 gene, leads to prothrombin-related thrombophilia.[1]

Diagnosis

Diagnosis of prothrombin-related thrombophilia is based on the symptoms, clinical exam, specific types of blood tests, and imaging studies. The results of genetic testing can help confirm the diagnosis. Other causes of blood clots may need to be excluded.[1][2]

Treatment

Treatment of prothrombin-related thrombophilia is focused on managing the symptoms and preventing future blood clots. Treatment may include blood-thinning medications.[1][2]

Specialists involved in the care of someone with prothrombin-related thrombophilia may include:

  • Hematologist
  • Pulmonologist
  • Obstetrician/gynecologist

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Prothrombin-related thrombophilia. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Prothrombin-related thrombophilia. Click on the link to view a sample search on this topic.

          References

          1. Kujovich JL. Prothrombin-Related Thrombophilia. GeneReviews. August 14, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1148.
          2. Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M. Hereditary thrombophilia. Acta Biomed. Sep 30, 2019; 90(10-S):44-46. https://pubmed.ncbi.nlm.nih.gov/31577252/.
          3. Dziadosz M, Baxi LV. Global prevalence of prothrombin gene mutation G20210A and implications in women's health: a systematic review. Blood Coagul Fibrinolysis. Jul 2016; 27(5):481-9. https://pubmed.ncbi.nlm.nih.gov/27058219/.

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