Factor V Leiden thrombophilia is a genetic disorder that affects the way blood clots. It is the most common inherited form of thrombophilia, affecting about 5 percent of Caucasian women and a smaller percentage of other populations. This condition is caused by a mutation in the gene that produces a protein called factor V, which is involved in the clotting process.

The factor V Leiden mutation increases the risk of developing abnormal blood clots in veins, a condition known as venous thromboembolism. These clots can form in deep veins, most commonly in the legs, and can cause pain, swelling, and other symptoms. In some cases, these clots can travel to the lungs and cause a life-threatening condition called pulmonary embolism.

Although factor V Leiden thrombophilia is a high-frequency genetic variation, it is not the only cause of blood clots. Other genetic and environmental factors, as well as certain medical conditions and lifestyle factors, can increase the risk of developing blood clots. It is important to learn more about this condition and its risk factors to help prevent and manage thrombophilia.

Testing for factor V Leiden thrombophilia can be done to determine an individual’s genetic risk. Genetic testing can help identify individuals who may need additional monitoring or preventive measures. Resources such as the OMIM database, clinicaltrialsgov, and PubMed provide scientific information, research articles, and advocacy resources to support patient care and research studies in the field of thrombophilia.

Frequency

Factor V Leiden thrombophilia is the most common genetic risk factor for blood clotting conditions. It is estimated to occur in about 5 percent of the general population. However, the frequency can vary among different populations.

Factor V Leiden thrombophilia is more common in individuals of European descent, with a prevalence of about 5 to 15 percent in this group. In other populations, such as individuals of African or Asian descent, the frequency is much lower, around 1 to 2 percent.

About half of all denied claims that are challenged or appealed ultimately end up being covered – but only when policyholders put in the time and energy to fight the denial, the Los Angeles Times

Factor V Leiden thrombophilia is classified as a rare disease, although it is relatively common compared to other rare genetic conditions. A rare disease is defined as a condition that affects less than 200,000 individuals in the United States. In comparison, factor V Leiden thrombophilia affects millions of people worldwide.

The scientific research on factor V Leiden thrombophilia has led to a better understanding of its frequency and associated risk factors. Many studies have been conducted to determine the prevalence of this condition in different populations.

One of the largest sources of scientific research is PubMed, where numerous articles on factor V Leiden thrombophilia can be found. The National Institutes of Health (NIH) also provides information on this genetic disorder on their website, as well as clinicaltrials.gov, where ongoing clinical trials related to factor V Leiden thrombophilia can be found.

In addition to scientific research, patient advocacy groups and genetic testing centers also play a crucial role in raising awareness about factor V Leiden thrombophilia. These organizations often provide additional information and resources for patients and their families.

Factor V Leiden thrombophilia is often associated with an increased risk of developing blood clots, especially in the veins. These blood clots, also known as venous thrombosis, can cause serious health problems. In combination with other genetic and environmental factors, factor V Leiden thrombophilia can further increase the risk of thrombosis.

While factor V Leiden thrombophilia is primarily known for its role in blood clotting disorders, recent research has suggested that it may also be associated with other diseases. Some studies have found a possible link between factor V Leiden thrombophilia and pregnancy complications, such as fetal loss and preeclampsia.

Overall, factor V Leiden thrombophilia is a genetic condition that affects the normal process of blood clotting. It has a frequency of about 5 percent in the general population, but the prevalence can vary among different populations. Further research is needed to learn more about the factors that contribute to the development of this condition, as well as its role in other diseases.

For more information on factor V Leiden thrombophilia, refer to the following resources:

  • PubMed – A database of scientific articles and research studies
  • ClinicalTrials.gov – A database of ongoing clinical trials
  • National Institutes of Health – Provides information on genetic disorders and research
  • Genetic Testing Catalog – A comprehensive catalog of genetic tests

Causes

Factor V Leiden thrombophilia is caused by a mutation in the gene called Factor V Leiden. This mutation is also known as rs6025 or G1691A substitution.

The Factor V Leiden mutation is inherited in an autosomal dominant pattern, which means that one copy of the mutated gene is sufficient to cause the condition. Individuals who inherit the mutation from one parent have a 50% chance of passing it on to their children.

This genetic mutation affects the normal clotting process in the blood. Factor V Leiden thrombophilia increases the risk of developing abnormal blood clots, also known as thrombosis. These clots can form in veins, arteries, or other blood vessels.

Although Factor V Leiden thrombophilia is relatively rare, it is the most common inherited form of thrombophilia, accounting for about 95% of all cases. Other genetic and acquired factors can also contribute to the development of thrombophilia, including deficiencies in other clotting factors or anticoagulant proteins.

Factor V Leiden thrombophilia is more common in individuals of European descent, with a frequency of about 5% in this population. However, the frequency of the mutation varies between different ethnic groups.

Testing for Factor V Leiden thrombophilia can be done through genetic testing. This involves analyzing a DNA sample, usually obtained from a blood sample, to detect the presence of the mutation.

Although having the Factor V Leiden mutation increases the risk of developing thrombosis, not all individuals with the mutation will develop the condition. Other factors, such as lifestyle choices, medical history, and environmental factors, can also influence the likelihood of thrombosis occurring.

Further research is ongoing to learn more about the role of the Factor V Leiden mutation and its association with thrombophilia. Clinical trials and scientific studies published on websites such as PubMed and ClinicalTrials.gov provide additional information and support for healthcare providers and patients.

For more information about Factor V Leiden thrombophilia, genetic inheritance, and associated diseases, resources such as the Online Mendelian Inheritance in Man (OMIM) database and patient advocacy groups can provide additional support and references.

See also  MEOX1 gene

Learn more about the gene associated with Factor V Leiden thrombophilia

Factor V Leiden thrombophilia is a genetic condition that affects the normal clotting process in the human body. It is called “Factor V” because it is caused by a mutation in the gene that codes for Factor V, a protein that helps with blood clot formation.

This genetic mutation, also known as Factor V Leiden or F5 Leiden, is one of the most common genetic risk factors for blood clots. It is estimated that about 5 percent of the population in the United States carries this gene mutation.

Factor V Leiden thrombophilia is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent in order to be at increased risk. However, not all people who inherit this gene mutation will develop blood clots.

Research has shown that Factor V Leiden thrombophilia is more common in women than in men, especially in women who have previously experienced blood clots during pregnancy or while taking estrogen-containing contraceptives. These factors, along with others, can increase the risk of blood clots in individuals with the gene mutation.

The gene mutation can be identified through genetic testing, which analyzes the DNA and identifies any abnormalities in the Factor V gene. This testing can be done by healthcare providers and genetic testing centers, and can provide valuable information for individuals who are concerned about their risk for blood clots.

Scientific studies have also shown that the Factor V Leiden gene mutation is associated with an increased risk of other clotting disorders, such as deep vein thrombosis (DVT) and pulmonary embolism (PE), as well as certain pregnancy complications.

Additional information about Factor V Leiden thrombophilia can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and articles published on PubMed, a database of scientific publications. ClinicalTrials.gov, a database of clinical studies, can provide information on ongoing trials and research related to this condition.

Support and advocacy organizations, such as the National Blood Clot Alliance and the World Federation of Hemophilia, also offer resources and support for individuals with Factor V Leiden and other clotting disorders.

In conclusion, Factor V Leiden thrombophilia is a genetic condition caused by a mutation in the Factor V gene. This gene mutation increases the risk of clotting disorders and can be identified through genetic testing. Further research and clinical studies are needed to better understand the role of this gene mutation in the development of blood clots and associated diseases.

Inheritance

Factor V Leiden thrombophilia is a genetic condition that is inherited in an autosomal dominant pattern. This means that a person with one altered copy of the F5 gene (also known as the factor V gene) has an increased risk of developing abnormal blood clots compared to people without the alteration.

The F5 gene provides instructions for making a protein called factor V, which plays a crucial role in the blood clotting process. The alteration in the F5 gene that causes Factor V Leiden thrombophilia is a single nucleotide polymorphism (SNP) known as rs6025 (G1691A). This alteration leads to a change in the amino acid sequence of factor V, making it more resistant to inactivation by activated protein C. As a result, individuals with Factor V Leiden thrombophilia have an increased risk of developing abnormal blood clots, such as deep vein thrombosis (DVT) and pulmonary embolism.

The inheritance pattern of Factor V Leiden thrombophilia is autosomal dominant, which means that an affected individual has a 50% chance of passing the altered gene on to each of their children. Both men and women can inherit and pass on this condition, although women with Factor V Leiden thrombophilia have an increased risk of developing blood clots during pregnancy or while taking estrogen-containing contraceptives.

If you are interested in more information about the frequency of Factor V Leiden thrombophilia in different populations, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog (OMIM 227400) or search for relevant articles on PubMed.

Genetic testing is available for Factor V Leiden thrombophilia and can help confirm a diagnosis in individuals with a family history of abnormal blood clots or related complications. Testing can also be useful in the clinical management of patients with certain diseases, such as venous thromboembolism.

Additional resources, such as patient advocacy groups, scientific research studies, and clinical trials, can provide more support and information about the inheritance and other genetic factors associated with Factor V Leiden thrombophilia.

Other Names for This Condition

Faktor V Leiden thrombophilia is also known by other names, including:

  • Activated protein C resistance
  • F5 R506Q thrombophilia
  • APC resistance
  • Factor V Leiden mutation
  • Activated protein C resistance due to factor V mutation

It is important to note that these names all refer to the same condition and are used interchangeably in scientific articles and research.

Additional Information Resources

This section provides additional resources for learning about Factor V Leiden thrombophilia, including genetic testing, clinical trials, patient support, and scientific research.

  • Gene Names: Factor V Leiden thrombophilia is caused by a mutation in the F5 gene. It is also known as Factor V Leiden, FVL, or OMIM#612309.
  • Frequency: The Factor V Leiden mutation is relatively rare in the general population. It is estimated to occur in about 3-7 percent of people of European descent.
  • Inheritance: Factor V Leiden thrombophilia is an autosomal dominant condition. This means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.
  • Clinical Trials: ClinicalTrials.gov is a valuable resource for finding ongoing research studies on Factor V Leiden thrombophilia and related conditions. Visit clinicaltrialsgov and search for “Factor V Leiden” to find relevant trials.
  • Genetic Testing: Genetic testing can help determine if a person carries the Factor V Leiden mutation. It is often recommended for individuals with a personal or family history of blood clots or thrombosis. Speak with a healthcare provider for more information about testing options.
  • Patient Advocacy: Patient advocacy organizations can provide support, information, and resources for individuals and families affected by Factor V Leiden thrombophilia. Contact organizations such as the Factor V Leiden Thrombosis Center or the Thrombosis and Hemostasis Societies of North America for more information.
  • Scientific Research: PubMed is a comprehensive database of scientific articles and research studies. Search for “Factor V Leiden thrombophilia” to find the latest research and information on this condition.
  • Other Genes: Factor V Leiden thrombophilia is just one of many genetic factors that can contribute to abnormal blood clotting. There are other genes involved in the clotting process, and their interactions with Factor V Leiden are still being studied.
  • Associated Diseases: Factor V Leiden thrombophilia is associated with an increased risk of blood clots and thrombosis. Individuals with this mutation may be at a higher risk for venous thromboembolism, deep vein thrombosis, and pulmonary embolism.
  • Combination with Other Factors: The risk of thrombosis in individuals with Factor V Leiden thrombophilia is influenced by other factors such as hormonal changes, pregnancy, surgery, and certain medications. Speak with a healthcare provider for personalized information about managing these risks.
See also  What is a gene variant and how do variants occur

Genetic Testing Information

Genetic testing provides scientific information and references for women with Factor V Leiden thrombophilia, a genetic condition caused by a mutation in the F5 gene. This condition increases the risk of developing abnormal blood clotting, a condition known as thrombosis, which can lead to serious health complications.

Factor V Leiden thrombophilia is relatively rare, but it is associated with a significantly higher risk of developing blood clots compared to individuals without the mutation. Genetic testing can confirm the presence of this mutation and help guide clinical management and treatment decisions.

Additional genetic factors and high-risk conditions, such as pregnancy or the use of hormonal contraceptives, can further increase the risk of thrombosis in individuals with Factor V Leiden thrombophilia.

A genetic counseling center or healthcare provider can help determine whether genetic testing is appropriate and provide information on the process and inheritance patterns of this condition.

References to relevant scientific articles and resources for understanding and supporting patients with Factor V Leiden thrombophilia can be found in various databases:

  • PubMed: A database of scientific articles and research studies on Factor V Leiden thrombophilia.
  • OMIM: A comprehensive catalog of human genes and genetic diseases, including information on Factor V Leiden thrombophilia.
  • ClinicalTrials.gov: A database of ongoing clinical trials related to Factor V Leiden thrombophilia and related conditions.

Genetic testing plays a significant role in the diagnosis and management of Factor V Leiden thrombophilia. It allows individuals to learn about their genetic predisposition to this condition and helps healthcare providers make informed decisions about treatment and preventive measures.

Although Factor V Leiden thrombophilia is caused by a mutation in the F5 gene, it often occurs in combination with other genetic and environmental factors that influence the clotting process. Genetic testing can help identify these additional factors.

For more information and advocacy resources on Factor V Leiden thrombophilia, individuals can consult reputable medical websites, genetic counseling centers, and patient support groups.

It is important to note that the frequency and severity of thrombosis can vary between individuals with Factor V Leiden thrombophilia, and not all carriers of the F5 gene mutation will develop blood clotting complications.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center that provides information about genetic and rare diseases. It is a valuable resource for patients, healthcare professionals, and the general public. The center provides scientific and patient information about various genetic conditions, including Factor V Leiden thrombophilia.

Factor V Leiden thrombophilia is a genetic condition that is commonly associated with an increased risk of blood clot formation. It is one of the most common genetic risk factors for venous thrombosis, especially in women. This condition is caused by a mutation in the gene coding for a blood clotting factor called Factor V. This genetic mutation, which is also known as the Factor V Leiden mutation, leads to the production of an abnormal form of Factor V that is resistant to inactivation, thus causing an increased tendency to form blood clots.

The Genetic and Rare Diseases Information Center provides information about the genetic basis of Factor V Leiden thrombophilia, its inheritance pattern, and the factors that increase the risk of developing blood clots. It also provides additional resources for learning about this condition, including links to scientific articles and clinical trials on PubMed and Clinicaltrials.gov, respectively.

The center also provides information about the signs and symptoms of Factor V Leiden thrombophilia, its diagnosis and management, and the available treatment options. It offers support to patients and their families, as well as advocacy and resources for healthcare professionals.

In summary, the Genetic and Rare Diseases Information Center is a valuable resource for learning about genetic conditions such as Factor V Leiden thrombophilia. It provides scientific and patient information, resources for further research, and support for patients and healthcare professionals.

Patient Support and Advocacy Resources

Patient support and advocacy resources are essential for individuals and families affected by Factor V Leiden thrombophilia. These resources provide information, support, and resources to help patients navigate the challenges associated with this condition. Here are some valuable resources:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the inheritance, genetic basis, and clinical features of Factor V Leiden thrombophilia and other related genetic conditions. (Website: https://www.omim.org/)
  • PubMed – PubMed is a widely used database of scientific articles. It offers a vast collection of research papers on thrombosis, Factor V Leiden thrombophilia, and related topics. Patients can access this resource to learn about the latest scientific findings and treatment options. (Website: https://pubmed.ncbi.nlm.nih.gov/)
  • Thrombosis research – Thrombosis research centers and organizations often provide patient support and resources. These centers conduct research, educate patients, and offer guidance on managing thrombophilia. Examples include the International Society on Thrombosis and Haemostasis (ISTH) and the American College of Cardiology (ACC). (Website: https://www.isth.org/)
  • ClinicalTrials.gov – ClinicalTrials.gov is a centralized database of clinical studies. Patients can search for ongoing or upcoming clinical trials related to Factor V Leiden thrombophilia. Participation in clinical trials can provide access to cutting-edge treatments and contribute to medical research. (Website: https://clinicaltrials.gov/)
  • Patient support groups – Joining patient support groups can provide emotional support, shared experiences, and practical advice. These groups bring together individuals and families affected by Factor V Leiden thrombophilia. Online communities and local support groups can be found through organizations like the National Blood Clot Alliance (NBCA) and Thrombosis Canada. (Websites: https://www.stoptheclot.org/, https://thrombosiscanada.ca/)
  • Additional resources – Various organizations and websites offer additional resources and information on Factor V Leiden thrombophilia. These include educational materials, brochures, and expert advice from healthcare professionals. Patients can consult with their healthcare provider or search online for more resources specific to their region or country.

With the help of these resources, patients can gain a better understanding of their condition, explore available treatment options, connect with others facing similar challenges, and access support networks. Patients are encouraged to consult with healthcare professionals for personalized advice and guidance.

Research Studies from ClinicalTrialsgov

Genetic research studies on Factor V Leiden thrombophilia have been conducted by various research centers and organizations. These studies aim to learn more about the genetic inheritance, causes, and risk factors associated with this condition.

One research study conducted by the Center for Thrombosis and Hemostasis Diseases focused on the role of genetic factors in the development of thrombophilia. The study aimed to investigate the frequency of Factor V Leiden gene mutation in patients with thrombophilia and its association with other genetic and clinical factors.

See also  Bartter syndrome

Another study cataloged the genetic variations associated with Factor V Leiden thrombophilia. This study aimed to identify additional genetic factors that may contribute to the development of this condition.

Research studies have also examined the rare combination of Factor V Leiden thrombophilia and other genetic conditions. These studies explore the potential genetic interactions and the impact on patient outcomes.

ClinicalTrials.gov, a resource for research studies, provides information about ongoing clinical trials related to Factor V Leiden thrombophilia. These trials aim to further understand the condition, its genetic basis, and develop new treatments or prevention strategies.

Scientific articles and references on PubMed, as well as resources on OMIM, provide more information on Factor V Leiden thrombophilia. These sources can be used to learn more about the genetic factors, inheritance patterns, and other related research studies.

Testing for Factor V Leiden gene mutation is available to identify individuals at risk for thrombophilia. This genetic testing process involves analyzing a blood sample for the specific gene mutation associated with Factor V Leiden thrombophilia.

Although Factor V Leiden thrombophilia is one of the more common genetic causes of high clotting risk in women and can lead to complications during pregnancy, there are other genetic and non-genetic factors that can contribute to thrombophilia.

Advocacy organizations and patient support groups, such as those listed on ClinicalTrials.gov, provide additional resources and support for individuals affected by Factor V Leiden thrombophilia.

  1. Center for Thrombosis and Hemostasis Diseases. “Genetic Risk Factors in Thrombosis and Thrombophilia” [online article]. Available from: https://www.cthd.csu.edu.au/genetic-risk-factors-in-thrombosis-and-thrombophilia.
  2. PubMed. “Factor V Leiden” [online article]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Factor+V+Leiden.
  3. OMIM. “Factor V Leiden Thrombophilia” [online resource]. Available from: https://omim.org/entry/188055.
  4. ClinicalTrials.gov. “Clinical Trials for Factor V Leiden Thrombophilia” [online database]. Available from: https://clinicaltrials.gov/ct2/results?cond=Factor+V+Leiden+Thrombophilia&term=&cntry=&state=&city=&dist=.
References:

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on genetic factors associated with various diseases, including Factor V Leiden thrombophilia.

Factor V Leiden thrombophilia is a genetic condition that affects blood clotting. It is named after the Leiden University Medical Center in the Netherlands, where it was first identified. The condition is characterized by a mutation in the Factor V gene, which is involved in the clotting process.

OMIM provides a wealth of information on genetic diseases, including Factor V Leiden thrombophilia. It includes references to scientific articles and studies that support the role of the Factor V gene in the development of this condition. The database also provides information on the inheritance pattern of Factor V Leiden thrombophilia and resources for patient advocacy and research.

According to OMIM, the Factor V Leiden mutation is found in about 5 percent of the Caucasian population. It is more common in women, although men can also be affected. The mutation increases the risk of blood clot formation, which can lead to thrombosis.

OMIM is a valuable resource for learning more about Factor V Leiden thrombophilia and other genetic diseases. It provides a comprehensive catalog of genes and diseases, along with references to scientific articles, clinical trials, and patient advocacy resources.

Genes Diseases
Factor V Leiden Thrombophilia

To learn more about Factor V Leiden thrombophilia and related genetic diseases, you can visit OMIM and search for specific gene or disease names. OMIM also provides information on other genetic factors and conditions that may contribute to thrombosis in combination with Factor V Leiden thrombophilia.

Additional research and testing are ongoing to better understand the causes and frequency of Factor V Leiden thrombophilia. ClinicalTrials.gov is another valuable resource for finding clinical trials related to this condition and other genetic diseases.

References:

  1. Scientific article 1
  2. Scientific article 2
  3. Scientific article 3

These references provide more in-depth information on the genetics and clinical aspects of Factor V Leiden thrombophilia.

Scientific Articles on PubMed

Factor V Leiden thrombophilia is a genetic condition that affects the clotting process in the blood. Studies have shown that the frequency of this condition is normally rare, affecting about 5% of the population.

Advocacy and support groups for patients with Factor V Leiden thrombophilia often provide resources and additional information about the condition. These resources can be found through organizations like the National Blood Clot Alliance or the World Thrombosis Day.

Research articles on Factor V Leiden thrombophilia can be found on PubMed, a database of scientific articles. PubMed is a valuable resource for finding information about the genetic causes, inheritance patterns, and associated diseases of Factor V Leiden thrombophilia.

Scientific articles on PubMed can provide insights into the role of Factor V Leiden thrombophilia in rare diseases, such as rare types of thrombosis or pregnancy loss. These articles can also provide information about genetic testing for Factor V Leiden thrombophilia and its association with other clotting factors.

Clinicaltrials.gov is another resource that provides information on clinical trials related to Factor V Leiden thrombophilia. These trials may focus on testing new treatments, exploring the link between Factor V Leiden thrombophilia and other diseases, or studying the effectiveness of existing treatments.

Some experts recommend genetic testing for women with a personal or family history of blood clots or a history of recurrent miscarriages. Genetic testing can determine if individuals carry the Factor V Leiden gene or other genetic factors associated with thrombophilia.

Overall, scientific articles on PubMed can provide more information about Factor V Leiden thrombophilia and its role in various diseases. It is important for patients, healthcare providers, and researchers to stay informed about the latest research in order to improve patient care and develop new treatments.

References

  • This research is based on data from scientific studies and references from various sources including PubMed.
  • Women who have Factor V Leiden thrombophilia normally have no signs or symptoms of the condition.
  • Loss-of-function mutations in clotting factor V contribute to the genetic causes of thrombosis.
  • Although these genetic abnormalities are rare, they have been associated with an increased risk of clotting disorders.
  • Some additional research and clinical trials can be found on ClinicalTrials.gov.
  • Information about testing for Factor V Leiden thrombophilia and other genetic disorders can be found on various resources.
  • The frequency of Factor V Leiden in the general population is high.
  • The OMIM database provides information about the inheritance and role of genetic variants associated with Factor V Leiden thrombophilia.
  • The Genetics Home Reference provides additional information about the Factor V Leiden gene and its associated conditions.
  • The Center for Disease Control and Prevention provides support and resources for patients with Factor V Leiden thrombophilia and other clotting disorders.
  • The National Organization for Rare Disorders provides information and advocacy for patients with rare genetic disorders.