Familial HDL (high-density lipoprotein) deficiency is a rare genetic condition that affects the body’s ability to produce enough of the “good” cholesterol, HDL. HDL helps remove excess cholesterol from the bloodstream, preventing the build-up of fatty deposits in the arteries and reducing the risk of heart disease.

This condition is usually inherited in an autosomal recessive manner, meaning that both parents must pass on a copy of the defective gene for a child to develop the condition. In some cases, the deficiency can also be caused by mutations in specific genes associated with HDL metabolism. The frequency of familial HDL deficiency in the general population is unknown, but it is estimated to be rare.

Research on familial HDL deficiency has been conducted by scientific centers and research organizations across the world. Studies have focused on understanding the genetic causes of the condition, clinical trials to develop new treatments, and the associated diseases and complications that can arise from HDL deficiency. Additional information can be found in scientific articles, clinical trials registry like clinicaltrial.gov, and research resources such as the Online Mendelian Inheritance in Man (OMIM) catalog.

Support and advocacy groups also provide resources and information for patients and families affected by familial HDL deficiency. These organizations may offer support networks, educational materials, and opportunities to participate in research studies. Patients and their families can also find references and learn about other associated diseases often seen in individuals with familial HDL deficiency, such as atherosclerosis.

Frequency

Familial HDL deficiency is a rare condition associated with low levels of high-density lipoprotein (HDL) cholesterol in the blood. It is characterized by defects in genes that support the development and functionality of HDL particles.

The frequency of familial HDL deficiency is not well established, as it is a rare genetic disorder. However, it has been reported in a small number of patients across different populations.

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According to the National Center for Biotechnology Information (NCBI) and the Online Mendelian Inheritance in Man (OMIM) database, several genes have been identified to cause familial HDL deficiency. These include ABCA1, LCAT, CETP, and APOA1, among others.

Reports and studies on familial HDL deficiency can be found on PubMed, a comprehensive citation center for scientific research. Additionally, there are advocacy and information resources available to learn more about this condition, such as the Arteriosclerosis Advocacy and the Genetic and Rare Diseases Information Center.

Further research and clinical trials can provide additional information about the inheritance patterns and other clinical manifestations of familial HDL deficiency. Interested individuals can find relevant studies on websites like ClinicalTrials.gov.

For more information on the frequency of familial HDL deficiency and references to specific studies, genes, and diseases, the catalog produced by the NCBI and OMIM can be a valuable resource.

Causes

Familial HDL deficiency is caused by genetic inheritance. This condition is often associated with mutations in the genes that are responsible for the production of HDL, also known as high-density lipoprotein.

There are several genes that have been identified to be associated with familial HDL deficiency. Some of these genes include ABCA1, LCAT, and CETP. Mutations in these genes can affect the function of HDL and lead to decreased levels of HDL in the blood.

This condition is relatively rare, with a frequency of less than 1 in 1,000 individuals. It can be inherited in an autosomal recessive or autosomal dominant manner, depending on the specific gene involved.

Additional research and studies are being conducted to learn more about the causes of familial HDL deficiency and the genes involved. The National Center for Biotechnology Information (NCBI) provides resources such as PubMed and ClinicalTrials.gov, where you can find more information about the latest research and clinical trials related to this condition.

Patient advocacy and support groups, such as the Familial Hypercholesterolemia Foundation, provide additional information and resources for individuals and families affected by familial HDL deficiency.

Learn more about the genes associated with Familial HDL deficiency

Familial HDL deficiency is a rare genetic condition that causes a decrease in the levels of high-density lipoprotein (HDL), also known as “good” cholesterol. It is often associated with an increased risk of developing arteriosclerosis and other cardiovascular diseases. If you or someone you know has been diagnosed with Familial HDL deficiency, it is important to learn more about the genes associated with this condition.

There are several genes that have been identified as being associated with Familial HDL deficiency. These genes code for proteins that are involved in the metabolism and transport of HDL. Some of the genes associated with Familial HDL deficiency include:

• ABCA1 gene
• LRP1 gene
• NR1H3 gene
• CETP gene

Research has shown that mutations in these genes can lead to an impaired ability to produce or transport HDL, resulting in low levels of HDL in the bloodstream. Understanding the genetic causes of Familial HDL deficiency is important for the development of targeted therapies and potential treatments for this condition.

To learn more about the genes associated with Familial HDL deficiency, you can explore various resources and research articles that provide in-depth information. Some of these resources include:

• The Online Mendelian Inheritance in Man (OMIM) database
• PubMed, a database of scientific articles
• ClinicalTrials.gov, a resource for clinical trials and studies
• The Genetic Testing Registry

These resources can provide you with additional information on the specific genes and their associated functions, as well as any ongoing research or clinical trials that may be relevant to Familial HDL deficiency.

It is also beneficial to reach out to advocacy and support groups that focus on Familial HDL deficiency or related conditions. These groups can provide you with valuable resources, support, and connections to other individuals and families who may be going through a similar experience.

In conclusion, Familial HDL deficiency is a rare genetic condition that is often caused by mutations in genes involved in the metabolism and transport of HDL. Learning more about the specific genes associated with this condition can help facilitate research, develop targeted therapies, and provide support for patients and families affected by Familial HDL deficiency.

Inheritance

Familial HDL deficiency is a genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop this condition.

Studies have identified several genes that are associated with familial HDL deficiency. Some of the commonly named genes include ABCA1, APOA1, and LCAT. Mutations in these genes can lead to the production of abnormal or non-functional high-density lipoprotein (HDL) particles, resulting in a deficiency of HDL cholesterol in the blood.

More information about the genetic causes of familial HDL deficiency can be found in scientific articles, genetic databases, and other references. The Online Mendelian Inheritance in Man (OMIM) database and the Genetic and Rare Diseases Information Center (GARD) are among the resources that provide information about the genes associated with this condition.

Inheritance of familial HDL deficiency can vary depending on the specific gene and mutation involved. In some cases, the condition may follow an autosomal dominant pattern, where only one copy of the mutated gene is sufficient to cause the disease. However, familial HDL deficiency is more commonly inherited in an autosomal recessive manner.

Patient advocacy organizations and support groups can provide additional resources and information about the inheritance of familial HDL deficiency. They may offer genetic counseling, support services, and clinical trial opportunities for affected individuals and their families.

Other Names for This Condition

Familial HDL deficiency is also known by other names, including:

• Familial hypoalphalipoproteinemia
• HDL deficiency due to ABCA1 defect
• High-density lipoprotein deficiency, familial
• Low HDL syndrome
• High-density lipoprotein deficiency, primary

These names may be used in scientific articles, clinical trials, and patient resources to refer to the same condition. The different names reflect the rare frequency of this condition and the variety of genetic causes associated with it.

If you would like to learn more about Familial HDL deficiency, additional information can be found on the following resources:

• OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders.
• ClinicalTrials.gov: A database of clinical studies across the world.
• PubMed: A database of scientific articles and research studies.
• Genetic and Rare Diseases Information Center: A resource that provides information on rare diseases and genes.
• Advocacy organizations: These organizations may provide support, information, and resources for individuals and families affected by Familial HDL deficiency.

By exploring these resources, you can develop a better understanding of the condition, its genetic causes, clinical studies, and support available.

Additional Information Resources

• Information on rare genes: Learn more about other rare genes associated with Familial HDL deficiency from the OMIM catalog, a comprehensive resource for genetic diseases. OMIM provides detailed information on the frequency, mode of inheritance, clinical features, and more for various rare genes.
• Arterioscler-related diseases: The Genetic and Rare Diseases Information Center (GARD) provides valuable resources and articles on rare arterioscler-related diseases, including Familial HDL deficiency. GARD offers information on symptoms, causes, inheritance patterns, and available treatments for these conditions.
• Advocacy and patient support: For more information and support related to Familial HDL deficiency, consider connecting with advocacy groups and patient support organizations. These organizations offer a wealth of resources, including educational materials, community forums, and opportunities to connect with others affected by the condition.
• Scientific research and studies: Stay updated on the latest scientific research and studies on Familial HDL deficiency by referring to reputable scientific journals and databases. PubMed, a widely used database, provides access to a vast collection of research articles on this rare condition.
• Clinical trials: Stay informed about ongoing clinical trials that aim to find new treatments or improve existing ones for Familial HDL deficiency. ClinicalTrials.gov is a valuable resource that provides information on currently active trials, including eligibility criteria and contact information for participating research centers.

Please note that this list of additional resources is not exhaustive and is provided to serve as a starting point for further exploration and research on Familial HDL deficiency.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information about genetic and rare diseases. GARD aims to increase awareness and understanding of these conditions, providing support to patients, families, and healthcare professionals.

Familial HDL deficiency is a rare genetic condition that affects the production of high-density lipoprotein (HDL) cholesterol. This form of HDL deficiency is often inherited in an autosomal dominant manner, meaning that each child of an affected parent has a 50% chance of inheriting the condition.

Individuals with familial HDL deficiency have abnormally low levels of HDL cholesterol in their blood. HDL cholesterol is often referred to as “good” cholesterol because it helps remove low-density lipoprotein (LDL) cholesterol from the bloodstream, reducing the risk of heart disease and stroke.

Familial HDL deficiency is caused by mutations in certain genes, including ABCA1 and LCAT. These genes provide instructions for making proteins that are involved in the production and metabolism of HDL cholesterol. Mutations in these genes can disrupt the normal function of these proteins, leading to decreased levels of HDL cholesterol in the blood.

Additional information about familial HDL deficiency can be found in scientific articles and resources available on the GARD website. The GARD website provides links to PubMed references, OMIM gene pages, and other relevant resources for further reading and research.

The GARD website also provides information about other rare diseases and conditions. Users can browse the GARD catalog to learn more about the names of genes associated with rare diseases, inheritance patterns, and available resources for support and advocacy.

GARD is dedicated to supporting the rare disease community by providing accurate and up-to-date information. Users can also find information about ongoing research and clinical trials related to familial HDL deficiency and other rare diseases on the GARD website.

For more information about familial HDL deficiency and other rare diseases, visit the Genetic and Rare Diseases Information Center website at www.rarediseases.info.nih.gov.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information, support, and resources for individuals and families affected by Familial HDL deficiency. These resources aim to give patients and their loved ones a better understanding of the condition and help them navigate the challenges associated with it.

Here are some patient support and advocacy resources that can provide valuable information and support:

• Genetic Diseases Information: Learn more about genetic diseases, including Familial HDL deficiency, at reputable websites such as OMIM (Online Mendelian Inheritance in Man) and GeneCards.
• Patient Support Groups: Joining patient support groups can connect individuals and families affected by rare conditions like Familial HDL deficiency, allowing them to share experiences, information, and emotional support. Support groups can be found through online platforms and local communities.
• Research Studies and Clinical Trials: Stay updated on the latest research studies and clinical trials related to Familial HDL deficiency. ClinicalTrials.gov and PubMed offer resources to find relevant studies and articles.
• Educational Materials: Patient advocacy organizations and medical institutions often produce educational materials that provide in-depth information about Familial HDL deficiency. These materials can include brochures, fact sheets, and online publications.
• References and Citations: Refer to scientific articles and studies for more detailed information about Familial HDL deficiency. These references can provide insight into the causes, inheritance patterns, and clinical features of the condition.

Remember, patient support and advocacy resources are designed to empower individuals and families affected by Familial HDL deficiency. By utilizing these resources, patients can gain knowledge, access support networks, and stay informed about the latest research and advancements in the field.

Research Studies from ClinicalTrialsgov

Familial HDL deficiency is a rare genetic condition caused by mutations in certain genes. It is associated with low levels of high-density lipoprotein (HDL) cholesterol, also known as “good” cholesterol. This condition can lead to an increased risk of developing arteriosclerosis and other cardiovascular diseases.

ClinicalTrialsgov is a valuable resource for patients and their families looking for information about research studies related to familial HDL deficiency. The website provides a comprehensive catalog of ongoing and completed clinical trials, as well as information about the genes and inheritance patterns associated with this condition.

Through ClinicalTrialsgov, patients can find studies that are investigating the causes of familial HDL deficiency and exploring potential treatments. These studies often involve genetic testing and may offer additional information about the condition and its inheritance patterns.

In addition to research studies, ClinicalTrialsgov provides references to scientific articles and resources about familial HDL deficiency. This includes information about the frequency of this condition, the names of the genes involved, and other related rare diseases.

PubMed, another resource produced by the National Center for Biotechnology Information, can also be used to find articles about familial HDL deficiency and its associated genes.

For patients and their families seeking support and advocacy resources, there are organizations dedicated to rare diseases and genetic conditions that may provide more information and assistance.

In summary, research studies from ClinicalTrialsgov offer valuable information about familial HDL deficiency, its genetic causes, and potential treatments. Patients and their families can use this resource to find ongoing and completed clinical trials, access scientific articles and research references, and connect with advocacy organizations for support.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides valuable information about the genetic basis of various diseases and their inheritance patterns. The catalog contains a wide range of clinical information, including the names of the diseases, their frequency, associated genes, and inheritance patterns.

OMIM is an important resource for researchers, healthcare providers, and patients. It serves as a valuable tool for scientists to learn about rare genetic conditions and conduct research studies. Healthcare providers can use OMIM to find additional information about a specific condition and explore potential treatment options.

Patients and their families can also benefit from OMIM. The catalog provides information about advocacy and support resources for different diseases, such as patient support groups and clinical trials. It also includes references to scientific articles and studies published on PubMed and other research databases.

One rare genetic condition mentioned in the catalog is Familial HDL deficiency. This condition is associated with low levels of high-density lipoprotein (HDL) cholesterol and can lead to the development of arteriosclerosis.

OMIM provides detailed information about the genes involved in Familial HDL deficiency and the clinical features associated with the condition. The catalog also includes citation numbers for additional references and resources.

In summary, OMIM is a valuable resource for anyone interested in genetic diseases. It serves as a catalog of genes and diseases, providing information about the clinical features, genetic inheritance, and associated genes. OMIM facilitates research, supports patient advocacy, and helps healthcare providers make informed decisions about diagnosis and treatment.

Scientific Articles on PubMed

The familial HDL deficiency is a rare genetic condition that causes a decrease in the levels of high-density lipoprotein (HDL) in patients. Research on this condition has been conducted across different scientific articles available on PubMed, a comprehensive database of scientific research articles.

These scientific articles provide valuable insights into the genetics and clinical manifestations of familial HDL deficiency. They often discuss the specific genes associated with this condition, such as ABCA1 and Apolipoprotein A1 (APOA1). The articles also describe the inheritance pattern, frequency, and additional genes that may be involved.

One of the primary resources for learning about familial HDL deficiency is the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog provides a wealth of information on the genetic basis of rare diseases, including HDL deficiencies. It includes references and links to scientific articles on PubMed related to this condition.

Advocacy and support groups for familial HDL deficiency often produce their own resources on this topic. These resources aim to provide patients and their families with more information about the condition and the latest research. They may include scientific articles, research updates, and clinicaltrialsgov references, as well as information about ongoing studies and clinical trials for potential treatments.

Overall, the scientific articles available on PubMed offer a comprehensive understanding of familial HDL deficiency, including its genetic basis, clinical manifestations, and potential treatments. Researchers, healthcare professionals, and patients can rely on these articles to stay informed about the latest developments in this rare and often underdiagnosed condition.

References

• Dron, J.S., Hegele, R.A. 2016. Genetics of Triglycerides and the Risk of Atherosclerosis. Current Atherosclerosis Reports. 18(12):67. DOI: 10.1007/s11883-016-0623-6.
• Khetarpal, S.A., Rader, D.J. 2017. Polygenic basis for dyslipidemia and atherosclerosis: from population biology to translational therapy. Current Opinion in Lipidology. 28(2):165-173. DOI: 10.1097/MOL.0000000000000425.
• Hobbs, H.H., Brown, M.S., Goldstein, J.L. 2001. Familial hypercholesterolemia. In: Scriver, C.R., Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W., Antonarakis, S.E. (eds.). The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill.
• Whitfield, A.J., Barrett, P.H., Van Bockxmeer, F.M., Burnett, J.R. 2004. Lipid disorders and mutations in the APOB gene. Clinical Chemistry. 50(10):1725-1732. DOI: 10.1373/clinchem.2004.036954.
• Genetics Home Reference. Familial hypercholesterolemia. U.S. National Library of Medicine. Accessed May 10, 2021. https://ghr.nlm.nih.gov/condition/familial-hypercholesterolemia.
• Online Mendelian Inheritance in Man (OMIM). Familial Hypercholesterolemia. Accessed May 10, 2021. https://www.omim.org/entry/143890.
• Center for Information and Study on Clinical Research Participation (CISCRP). Familial Hypercholesterolemia (FH). Accessed May 10, 2021. https://www.ciscrp.org/educational-resources/clinical-trials-guide/familial-hypercholesterolemia-fh/.