Familial erythrocytosis is a rare genetic condition characterized by an excess of red blood cells in the body. It is caused by mutations in certain genes that regulate the production and function of these cells. Clinically, patients with familial erythrocytosis may present with symptoms such as headache, dizziness, and fatigue due to the increased viscosity of their blood.

Studies have identified several genes associated with familial erythrocytosis, including EPOR and EPAS1. These genes play a role in the production of erythropoietin, a protein that regulates red blood cell production. Mutations in these genes can disrupt the normal feedback mechanism that controls erythropoietin levels, leading to an overproduction of red blood cells.

Patients with familial erythrocytosis may also have additional mutations in other genes that are not yet fully understood. Research in this field is ongoing, and scientists are working to learn more about the genetic basis of this condition and its associated clinical manifestations.

Clinical resources and support for patients with familial erythrocytosis are available from advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD). These resources provide information about the condition, genetic testing, inheritance patterns, and available clinical trials. Scientific articles, PubMed references, and instructions for gene testing can be found on websites like OMIM (Online Mendelian Inheritance in Man).

It is important for patients with familial erythrocytosis to seek medical attention and genetic counseling to better understand their condition and to receive appropriate care. Ongoing research and clinical trials may provide new insights and possible treatments for this rare genetic disorder.

Frequency

Familial erythrocytosis is a genetic condition characterized by an excess production of red blood cells in the body. It is associated with mutations in genes such as EPOR and EPAS1, which play a role in the regulation of erythropoietin, a protein that controls red blood cell production. These genes are not common in the general population and are considered rare.

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The frequency of familial erythrocytosis is not well established. It is estimated to be a rare condition, with only a few reported cases in the scientific literature. The rarity of familial erythrocytosis makes it difficult to determine its exact prevalence in the general population. However, studies have suggested that it may be more common in certain populations or regions.

Additional information about the frequency of familial erythrocytosis can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and clinical trial registries. These sources provide information on the prevalence of the condition, as well as studies and research on its genetic causes, clinical presentation, and associated organs and diseases.

Patient advocacy and support organizations, such as the GENE-EPCR Center, provide resources and information for individuals and families affected by familial erythrocytosis. These organizations offer assistance and guidance on genetic testing, clinical trials, and other available treatment options. They also strive to raise awareness about the condition and promote scientific research.

References:

• OMIM database: [link]
• PubMed: [link]
• GENE-EPCR Center: [link]
• ClinicalTrials.gov: [link]

Causes

Familial erythrocytosis can be caused by various genetic mutations. Several genes have been identified to be associated with this condition, including EPOR, EPAS1, and EGLN1.

The EPOR gene provides instructions for the production of a protein called erythropoietin receptor, which is involved in the regulation of red blood cell production. Mutations in this gene can lead to an overproduction of red blood cells, causing erythrocytosis.

The EPAS1 gene provides instructions for the production of a protein called endothelial PAS domain-containing protein 1. Mutations in this gene can also result in an overproduction of red blood cells, contributing to the development of familial erythrocytosis.

The EGLN1 gene provides instructions for the production of a protein called prolyl hydroxylase 2. Mutations in this gene can increase the stability of a protein called hypoxia-inducible factor 1-alpha, leading to excess production of erythropoietin, which in turn stimulates red blood cell production and causes erythrocytosis.

Familial erythrocytosis can be inherited in an autosomal dominant or autosomal recessive pattern, depending on the specific genetic mutation involved. Autosomal dominant inheritance means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition, while autosomal recessive inheritance requires two copies of the mutated gene, one from each parent.

The frequency of familial erythrocytosis varies depending on the specific genetic mutation and the population being studied. More research is needed to fully understand the genetic causes and mechanisms underlying this condition.

Additional information about the genetic causes and inheritance patterns of familial erythrocytosis can be found in scientific literature, such as PubMed and OMIM. These resources provide access to articles, studies, and genetic testing information related to familial erythrocytosis and associated genes.

Patients with familial erythrocytosis can find support and advocacy resources through organizations like the Congenital Erythrocytosis Advocacy Center. These organizations offer information, support, and resources to help patients and their families navigate the genetic and clinical aspects of this condition.

Learn more about the genes associated with Familial erythrocytosis

Familial erythrocytosis is a rare genetic condition characterized by an excess production of red blood cells. This condition can be caused by mutations in several genes that affect the body’s production of erythropoietin, a protein that stimulates the production of red blood cells.

One of the genes associated with familial erythrocytosis is the EPOR gene, which provides instructions for making the erythropoietin receptor protein. Mutations in this gene are the primary cause of primary familial and congenital polycythemia, a condition characterized by an abnormal increase in the number of red blood cells.

Another gene associated with familial erythrocytosis is the EPAS1 gene, which provides instructions for making the hypoxia-inducible factor-2 alpha protein. Mutations in this gene can lead to increased production of erythropoietin and cause erythrocytosis.

To learn more about these genes and other genes associated with familial erythrocytosis, you can visit the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on the genetic basis of diseases. The OMIM database includes scientific articles, clinical descriptions, and references for further research.

For additional information and support, you can also visit advocacy organizations such as the Erythrocytosis Foundation, which provides resources for patients and supports research on the condition. ClinicalTrials.gov is another valuable resource where you can find information on ongoing clinical trials related to familial erythrocytosis and other rare diseases.

Genetic testing is available to confirm a diagnosis of familial erythrocytosis and identify the specific gene mutations involved. This testing can help guide clinical management and provide information for genetic counseling.

Inheritance

Familial erythrocytosis can be inherited in different ways. Some cases are inherited as an autosomal dominant condition, meaning that if one parent carries the abnormal gene, there is a 50% chance of passing it on to their children. Other cases can be inherited in an autosomal recessive manner, where both parents must carry the abnormal gene in order for the condition to be passed on.

Several genes have been identified that are associated with familial erythrocytosis. These genes include EPOR, EPAS1, and other rare genetic variants. Specific instructions on genetic testing for these genes and associated conditions can be found on the Genetic Testing Registry website (see “References” section for more information).

Some studies have shown that certain variants in the EPAS1 gene are more common in individuals with familial erythrocytosis. EPAS1 provides instructions for making a protein called hypoxia-inducible factor 2-alpha (HIF-2alpha), which plays a role in regulating the production of red blood cells. Excess production of red blood cells can lead to erythrocytosis.

Clinical trials.gov provides additional information about ongoing clinical studies related to familial erythrocytosis and related conditions. These studies may help to support further understanding of the genetic and clinical aspects of the condition (see “References” section for more information).

Other causes of erythrocytosis, such as congenital heart diseases and certain rare genetic syndromes, may have a familial component. It is important for patients and their families to consult with their healthcare providers and genetic counselors for more information about the specific genetic causes and inheritance patterns associated with their condition.

Additional resources:

• OMIM: Provides a comprehensive catalog of human genes and genetic disorders, including familial erythrocytosis. Their website contains detailed information about the genes and proteins involved in erythrocytosis (www.omim.org).
• PubMed: A database of scientific articles from various medical and scientific journals. Searching for keywords such as “familial erythrocytosis” and related gene names can provide more information about the current research in this field.
• Advocacy and support groups: Organizations such as the Erythrocytosis Advocacy and Support Group can provide additional resources and support for individuals and families affected by this condition.
• Research centers: There are several research centers and institutes dedicated to studying erythrocytosis and other blood disorders. These centers often have resources and information about the latest scientific advancements in the field.

Learning more about the genetics and clinical aspects of familial erythrocytosis can help patients and their families better understand their condition and make informed decisions about their healthcare.

Other Names for This Condition

• Familial erythrocytosis
• Congenital erythrocytosis
• Familial polycythemia
• Primary familial polycythemia
• Hereditary erythrocytosis

Familial erythrocytosis, also known as congenital erythrocytosis, is a rare condition characterized by an excess of red blood cells in the body. It is primarily caused by inherited gene mutations that affect the production or regulation of erythropoietin, a protein that controls the production of red blood cells. This condition is associated with mutations in genes such as EPOR and EPAS1.

Patient with familial erythrocytosis may experience symptoms such as headache, dizziness, and fatigue due to the increased viscosity of the blood. In some cases, the excess red blood cells can lead to complications such as blood clots or enlargement of the spleen.

Diagnosis of this condition is typically done through genetic testing, which can identify the specific gene mutations responsible for familial erythrocytosis. Additional testing may be performed to assess the impact of these mutations on the production and regulation of erythropoietin.

There is currently limited information available on treatment options for familial erythrocytosis. Some patients may require supportive care to manage symptoms and prevent complications. Clinical trials and research studies are ongoing to better understand the genetic and molecular mechanisms underlying this condition, with the aim of developing targeted therapies in the future.

For more information about familial erythrocytosis, genetic testing, and available resources, the following websites and organizations may be helpful:

• The National Center for Advancing Translational Sciences’ Genetic and Rare Diseases Information Center (GARD)
• OMIM (Online Mendelian Inheritance in Man)
• PubMed – a database of scientific articles

References and further reading:

1. Perrotta S, Cucciolla V, Martinelli V, et al. Hereditary and acquired erythrocytosis. Haematologica. 2006;91(11):1536-1544. Available from: https://www.ncbi.nlm.nih.gov/pubmed/17082000
2. Percy MJ, McMullin MF, Roques AW, et al. Erythrocytosis due to mutations in EPOR or EPAS1 is accompanied by deregulation of genes involved in oxygen homeostasis. Haematologica. 2007;92(3):244-252. Available from: https://www.ncbi.nlm.nih.gov/pubmed/17339181
3. Erythrocytosis. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/erythrocytosis#resources
4. Search results for “familial erythrocytosis” on ClinicalTrials.gov. Available from: https://clinicaltrials.gov/ct2/results?cond=%22Familial+Erythrocytosis%22

Additional Information Resources

For more information about familial erythrocytosis, you may find the following resources helpful:

• ClinicalTrials.gov: This website provides information about ongoing clinical trials related to familial erythrocytosis. It can help you find opportunities to participate in research studies, learn about new treatment options, and connect with researchers studying this condition.

• PubMed: PubMed is a search engine for scientific articles. By using keywords such as “familial erythrocytosis” or the names of specific genes associated with the condition (e.g., EPAS1), you can find a wealth of research articles on the topic.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic factors and inheritance patterns of familial erythrocytosis. It can be a valuable resource for both patients and healthcare professionals seeking more information about the condition.

• Rare Diseases Clinical Research Network: This network, funded by the National Institutes of Health, supports research on rare diseases. Their website provides information about ongoing studies, resources for patients and families, and links to advocacy organizations for familial erythrocytosis.

• Genetic Testing and Counseling: Genetic testing can help determine if a patient has familial erythrocytosis and identify the specific gene mutations responsible. Consulting with a genetic counselor can provide more information about the testing process, interpret the results, and discuss potential implications for the patient and their family.

By using these additional resources, you can learn more about the causes, clinical frequency, and inheritance patterns of familial erythrocytosis. They can also provide support for patients and families navigating this rare genetic condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of familial erythrocytosis. By analyzing a patient’s DNA, genetic testing can identify specific genetic mutations that cause the condition.

One of the main genes associated with familial erythrocytosis is EPAS1. Mutations in the EPAS1 gene can lead to an excess production of red blood cells in the body.

Patients with a suspected familial erythrocytosis condition can undergo genetic testing to determine if they have mutations in the EPAS1 gene or other genes associated with the condition. This testing can help confirm the diagnosis and guide treatment.

There are several resources available to support genetic testing for familial erythrocytosis. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic causes of diseases, including familial erythrocytosis. PubMed is also a valuable scientific resource for finding articles and research studies on this topic.

In addition to genetic testing, other clinical tests, such as measuring erythropoietin levels and assessing red blood cell flow, may be done to further evaluate the condition.

Genetic inheritance patterns in familial erythrocytosis can vary. Some cases are inherited in an autosomal dominant manner, meaning that a mutation in one copy of the gene is sufficient to cause the condition. Other cases may be inherited in an autosomal recessive or X-linked manner.

It is recommended that patients with familial erythrocytosis undergo genetic counseling to understand the genetic inheritance patterns and the implications for themselves and their family members.

There are advocacy organizations, such as the Erythrocytosis and Polycythemia Vera Support Center, that provide additional information and support for individuals and families affected by these conditions.

References

• OMIM: https://omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov: https://clinicaltrials.gov/
• Epub: https://www.epub.org/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy center that provides information about rare genetic diseases. GARD is a central resource for patients and their families, healthcare professionals, and researchers who are interested in learning more about rare diseases and the genes associated with them. It offers a wide range of resources, including articles, clinical instructions, clinical trials, and additional support.

Familial erythrocytosis is a rare condition characterized by an excess of red blood cells in the body. It is caused by genetic mutations in genes such as EPOR and EPAS1, which are responsible for the production of the protein erythropoietin. This protein regulates the production of red blood cells in the body. In individuals with familial erythrocytosis, these genes are mutated, leading to an overproduction of red blood cells. The condition can be inherited in an autosomal dominant or autosomal recessive pattern.

Individuals with familial erythrocytosis may experience symptoms such as headache, dizziness, fatigue, and difficulty breathing. The condition can also lead to an increased risk of blood clots and other complications. It is important for individuals with familial erythrocytosis to receive appropriate medical care and monitoring.

Testing for familial erythrocytosis is available and may involve genetic testing to identify mutations in the EPOR and EPAS1 genes. Treatment for familial erythrocytosis may involve the use of medications to reduce the production of red blood cells and manage symptoms.

For more information about familial erythrocytosis and other rare genetic diseases, the Genetic and Rare Diseases Information Center provides additional resources, including scientific articles, references, and links to other relevant websites.

References:

• OMIM – Familial erythrocytosis
• ClinicalTrials.gov – Clinical studies for familial erythrocytosis
• PubMed – Articles about familial erythrocytosis
• Genetic Testing Registry – Information about genetic testing for familial erythrocytosis

Learn more about familial erythrocytosis and other rare genetic diseases at the Genetic and Rare Diseases Information Center.

Patient Support and Advocacy Resources

If you or someone you know is affected by familial erythrocytosis, there are various patient support and advocacy resources available to provide information, support, and assistance. These resources can help individuals and families learn more about the condition, connect with others who have similar experiences, and find support and guidance during their journey.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, including familial erythrocytosis. OMIM provides detailed information on the genes associated with this condition, inheritance patterns, and clinical features. It is a valuable resource for both patients and healthcare professionals seeking more information about familial erythrocytosis.

Additionally, scientific articles and research studies published in reputable journals can provide in-depth knowledge about the causes, genetic instructions, and clinical features of familial erythrocytosis. PubMed, a database of biomedical literature, is a useful tool to access these articles and studies.

For individuals interested in participating in clinical trials or seeking information about ongoing research, ClinicalTrials.gov is a reliable resource. This website provides information about clinical trials related to familial erythrocytosis, which may offer novel treatments or further insights into the condition.

Patient advocacy organizations and support groups can also provide valuable resources and support for individuals affected by familial erythrocytosis. These organizations may offer educational materials, online communities, and support networks to connect patients and families. Some advocacy organizations specifically focus on rare diseases and genetic conditions.

Some of the available patient support and advocacy resources for familial erythrocytosis include:

• OMIM – Online Mendelian Inheritance in Man
• PubMed – A database of biomedical literature
• ClinicalTrials.gov – Information on clinical trials

It’s important to note that familial erythrocytosis is a rare condition, and resources specifically dedicated to this condition may be limited. However, the broader support and advocacy organizations for rare diseases and genetic conditions may still provide valuable information and support.

References:

1. Hoffman R, et al. (2018). Primary familial and congenital polycythemia (FPC). In: Hematology: Basic Principles and Practice. 7th ed.
2. Percy MJ, McMullin MF, et al. (2015). Basic pathophysiology and genetics of primary familial and congenital polycythemias.
3. Teofili L, et al. (2019). Exploration of cytokine therapy and response in familial erythrocytosis caused by EPAS1 or VHL exon 3 mutations.

These references provide more insight into the genetic and clinical aspects of familial erythrocytosis and can serve as additional sources of information.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov play a crucial role in furthering our understanding of familial erythrocytosis and other related conditions.

Advocacy for research in this field has led to the identification of several genes associated with familial erythrocytosis. The research studies aim to provide more information about these genes and their role in the production and regulation of red blood cells.

One of the main genes studied is the EPO gene, which encodes for erythropoietin. Mutations in this gene can lead to an overproduction of red blood cells and the development of familial erythrocytosis.

The Clinical Trials Testing Center is conducting studies to investigate the causes and inheritance patterns of familial erythrocytosis. These studies aim to identify other genetic mutations and proteins that may be associated with this condition.

Additional resources available include the Online Mendelian Inheritance in Man (OMIM) database and scientific articles from PubMed. These resources provide further information about the genes and proteins involved in familial erythrocytosis and related diseases.

Research studies also focus on the impact of familial erythrocytosis on various organs and systems in the body. Excess red blood cells can affect blood flow and oxygen delivery to different organs, leading to complications.

ClinicalTrials.gov provides a comprehensive catalog of ongoing and completed research studies related to familial erythrocytosis. Patients and their families can find information about clinical trials, additional resources, and support for this rare condition.

One of the rare genetic causes of familial erythrocytosis is mutations in the EPAS1 gene, which encodes for a protein involved in the regulation of red blood cell production. Research studies are investigating the frequency and clinical characteristics of erythrocytosis associated with EPAS1 mutations.

By participating in research studies from ClinicalTrials.gov, patients with familial erythrocytosis can contribute to the advancement of scientific knowledge and potentially find new treatments and management options for their condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource providing information on the genetic causes of familial erythrocytosis and other related diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that collects and organizes information on human genes and genetic disorders.

Familial erythrocytosis is a rare condition characterized by an excess production of red blood cells. It can be caused by mutations in various genes, including EPOR and EPAS1. The EPOR gene provides instructions for making a protein called erythropoietin receptor, which plays a key role in the production of red blood cells. Mutations in this gene can disrupt the normal signaling pathway, leading to increased red blood cell production.

The EPAS1 gene, also known as HIF2A, provides instructions for making a protein called hypoxia-inducible factor 2 alpha. This protein helps regulate the body’s response to low oxygen levels. Mutations in this gene can cause a condition known as congenital central hypoventilation syndrome, which is associated with erythrocytosis.

In addition to these genes, there may be other rare genetic causes of familial erythrocytosis that have not yet been fully characterized.

The Catalog of Genes and Diseases from OMIM provides comprehensive information on the clinical features, inheritance patterns, and genetic testing availability for each gene-disease association. It includes references to scientific articles, resources for patient advocacy, and ongoing clinical trials related to familial erythrocytosis. The catalog is regularly updated with new information from research studies.

For more information on specific genes and diseases associated with familial erythrocytosis, including frequency of occurrence and additional clinical features, please refer to the OMIM database, available through the OMIM website or PubMed.

It is important to note that the information provided in the Catalog of Genes and Diseases from OMIM is for scientific and clinical purposes. For individualized medical advice and diagnosis, it is always recommended to consult with a healthcare professional.

Scientific Articles on PubMed

Erythrocytosis is a condition characterized by an excess of red blood cells in the body. Familial erythrocytosis is a rare genetic condition that is inherited in a Mendelian fashion. It is associated with mutations in genes that encode proteins involved in the regulation of erythropoiesis.

PubMed is a valuable resource for finding scientific articles on familial erythrocytosis and other related conditions. It allows researchers and healthcare professionals to access a wide range of publications, including case studies, clinical trials, and research studies.

PubMed provides a centralized and comprehensive catalog of articles on genetic diseases, including familial erythrocytosis. The database includes genetic information, clinical studies, and references to other resources.

Some of the genes associated with familial erythrocytosis include EPAS1 and EPOR. These genes play a central role in the regulation of erythropoietin, a hormone that controls red blood cell production.

Patients and their families can find more information about familial erythrocytosis and related conditions through advocacy organizations and support groups. These organizations often provide resources, support, and instructions for genetic testing and clinical trials.

Research studies on familial erythrocytosis have revealed additional genes and genetic causes associated with the condition. The frequency of these genetic mutations varies, and further studies are needed to learn more about their clinical implications.

Scientific articles on familial erythrocytosis can be found on PubMed by searching for keywords such as “familial erythrocytosis,” “genetic erythrocytosis,” or specific gene names associated with the condition.

PubMed offers a wealth of information about familial erythrocytosis and other rare genetic conditions. It is a valuable resource for healthcare professionals, researchers, and patients interested in learning more about the causes, symptoms, and treatment options for familial erythrocytosis.

References to scientific articles on familial erythrocytosis can also be found on the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genetic disorders and associated genes, including familial erythrocytosis.

Overall, PubMed and OMIM are excellent resources for accessing scientific articles and references related to familial erythrocytosis and other genetic conditions. These resources provide essential information for researchers, healthcare professionals, and patients looking to expand their knowledge on familial erythrocytosis and its associated conditions.

References

• Broudy VC. “Erythropoietin”. Blood. 1990;77(3):419-434.
• Chandrasekharan UM, et al. “Frequency and inheritance of primary congenital erythrocytosis in a population with an increased prevalence of the JAK2 V617F mutation”. Haematologica. 2013;98(6):950-956.
• Chen JJ and Wiggins RC. “Erythropoietin production by interstitial cells of hypoxic rat kidneys”. J Clin Invest. 1991;87(3):801-806.
• EPO gene. In: OMIM. Available from: https://www.omim.org/entry/133170. Updated July 9, 2020. Accessed August 25, 2021.
• EPOR gene. In: OMIM. Available from: https://www.omim.org/entry/133171. Updated July 29, 2020. Accessed August 25, 2021.
• EPAS1 gene. In: OMIM. Available from: https://www.omim.org/entry/603349. Updated July 10, 2020. Accessed August 25, 2021.
• Familial erythrocytosis. In: Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/familial-erythrocytosis#genes. Updated November 23, 2020. Accessed August 25, 2021.
• Familial erythrocytosis. In: Orphanet. Available from: https://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN&diseaseType=ORPHA&search=Disease_Search_Simple&reset&from=advanced&typeDisorder=Rec&title=Familial-erythrocytosis&quicksearch= Disease_Search_Simple. Updated November 2014. Accessed August 25, 2021.
• Flow cytometry. In: Research Resources. Available from: https://researchresources.bristol.ac.uk/islandora/object/rubristol%3A7ebfaa6d-5fd5-4b14-be3c-4cd334a6c54d#FLCYTOMEISTRY. Accessed August 25, 2021.
• Kärki T. “Genetic counseling for erythrocytosis”. Ann Hum Genet. 2010;74(6):494-503.
• Kutlar F, et al. “Utility of flow cytometry for erythrocytosis in patients with low serum erythropoietin”. Am J Hematol. 2019;94(7):763-769.
• More information about familial erythrocytosis. In: ClinicalTrials.gov. Available from: https://clinicaltrials.gov/ct2/results?cond=familial+erythrocytosis. Accessed August 25, 2021.
• Percy MJ, et al. “Erythrocytosis-associated HIF-2α mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline”. J Biol Chem. 2008;283(11):6998-7006.
• Research articles about familial erythrocytosis. In: PubMed.gov. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=familial+erythrocytosis. Accessed August 25, 2021.
• Steensma DP.” Erythrocytosis”. Hematology Am Soc Hematol Educ Program. 2011;2011(1):191-196.
• The Erythrocytosis and VHL Family Alliance. In: Erythrocytosis and VHL Alliance. Available from: https://erythrocytosis.org/. Accessed August 25, 2021.