Familial hypobetalipoproteinemia (FHBL) is a rare genetic disorder that affects the body’s ability to transport fats, specifically low-density lipoprotein (LDL) cholesterol. This condition is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing on the mutated gene to each of their children.

The main genetic cause of FHBL is mutations in the apolipoprotein B (APOB) gene, which codes for a protein involved in the transport of cholesterol. Mutations in this gene result in decreased production of LDL cholesterol, leading to abnormally low levels in the blood.

Patients with FHBL often have no symptoms or mild symptoms, such as low levels of LDL cholesterol and other fats called triglycerides. Some individuals may also experience problems with the absorption of fat-soluble vitamins, leading to deficiencies in these nutrients.

Diagnosis of FHBL is typically made through genetic testing, which can identify mutations in the APOB gene. Additional testing may be done to assess cholesterol and lipid levels, as well as to evaluate the function of the liver and other organs involved in fat metabolism.

Currently, there is no cure for FHBL. Treatment focuses on managing symptoms and maintaining a healthy lifestyle. This may include a diet rich in vitamins and supplements, as well as regular monitoring of blood lipid levels. In some cases, management may also involve medication to help regulate cholesterol levels.

With advancements in genetic research, more is being learned about this condition and its associated genes. Scientific studies and clinical trials are ongoing to develop a better understanding of the underlying causes of FHBL and explore potential treatment options.

Long wait times are often cited as a downfall of universal healthcare systems, but wait times in America have reached a new high, too. The average time to make a physician appointment as a new patient in 15 major U.S. cities is now 24 days, up 30% in just 3 years (2014 to 2018) according to physician recruiting firm Merritt Hawkins.

For more information about FHBL, genetic testing, and resources for individuals and families affected by this condition, the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) offer additional support and advocacy.

References:

1. Burnett, J. R. (2005). Familial hypobetalipoproteinemia. Thromb Clin, 591-598.

2. Noto, D., Cefalù, A. B., Conte, M., Fayer, F., Longo, M., Zambon, A., … & Averna, M. (2011). Familial hypobetalipoproteinemia: a report of two new cases in the same family and briefly review. Clinical Chemistry and Laboratory Medicine, 49(12), 2009-2011.

3. OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/

4. PubMed – National Library of Medicine. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Frequency

Familial hypobetalipoproteinemia is a rare genetic condition that affects the metabolism of fat-soluble vitamins and fatty acids. The frequency of this condition is not well documented, but it is estimated to occur in approximately 1 in 5,000 individuals.

Information about the frequency of Familial hypobetalipoproteinemia can be found in scientific articles, references, and genetic databases such as PubMed, OMIM, and other genetic resources. Several studies have been conducted to learn more about the genetic causes and inheritance patterns of this condition.

Inheritance of Familial hypobetalipoproteinemia is autosomal dominant, meaning that individuals with one copy of the genetic mutation have a 50% chance of passing on the condition to their children. Genetic testing can be done to confirm the diagnosis and determine the specific genetic mutation.

Additional information about the frequency, clinical trials, patient advocacy, and support resources can be found on websites like the National Organization for Rare Disorders (NORD), Genetic and Rare Diseases Information Center (GARD), and the Burnett Noto Global Foundation for Genetic Research.

In conclusion, Familial hypobetalipoproteinemia is a rare genetic condition with an estimated frequency of 1 in 5,000 individuals. It is associated with mutations in genes related to the metabolism of fat-soluble vitamins and fatty acids. Genetic testing can confirm the diagnosis and determine the specific genetic mutation.

Causes

Familial hypobetalipoproteinemia is a rare genetic condition that is caused by changes in certain genes. The condition is often associated with mutations in the APOB and PCSK9 genes, which play a role in the production and function of a protein called apolipoprotein B.

Apolipoprotein B is essential for the normal metabolism of fat and cholesterol in the body. It is a major component of several types of lipoproteins, which are responsible for transporting fat-soluble vitamins and other fatty substances in the blood.

Individuals with familial hypobetalipoproteinemia have low levels of apolipoprotein B, which can lead to a decrease in the production of certain lipoproteins, such as low-density lipoprotein (LDL) cholesterol. This can result in low levels of cholesterol and triglycerides in the blood.

The inheritance pattern of familial hypobetalipoproteinemia can vary. In some cases, the condition is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. In other cases, it may be inherited in an autosomal recessive manner, which means that a person needs to inherit two copies of the mutated gene, one from each parent, to develop the condition.

While familial hypobetalipoproteinemia is a rare condition, more information about the genetic causes and inheritance patterns of the condition can be found in scientific research articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information for healthcare providers, researchers, and individuals interested in learning more about this condition.

Genetic testing can be performed to confirm a diagnosis of familial hypobetalipoproteinemia, as well as to determine the specific genetic changes associated with the condition. This testing can help identify individuals at risk for developing the condition, provide information about potential complications, and guide treatment and management strategies.

In addition to genetic causes, there may be other factors that contribute to the development of familial hypobetalipoproteinemia. Certain diseases, such as metabolic disorders or liver diseases, can be associated with low levels of apolipoprotein B. It is important for individuals with familial hypobetalipoproteinemia to receive appropriate medical care and management of any underlying conditions.

Advocacy and support organizations, such as the National Lipid Association and the Center for Information and Study on Clinical Research Participation (CISCRP), can provide additional information, resources, and support for individuals and families affected by familial hypobetalipoproteinemia.

Learn more about the genes associated with Familial hypobetalipoproteinemia

Familial hypobetalipoproteinemia is a rare genetic condition characterized by very low levels of cholesterol and triglycerides in the blood. The condition is caused by mutations in genes that encode for proteins involved in the metabolism of lipids, particularly the apolipoprotein B (APOB) gene.

Research on the genetic basis of familial hypobetalipoproteinemia has identified several genes that are associated with the condition. These genes include:

• APOB gene: This gene provides instructions for making the apolipoprotein B protein, which is responsible for the transport of fats, including cholesterol and triglycerides, in the bloodstream.
• Thromb gene: This gene encodes for the thrombomodulin protein, which plays a role in blood clot formation and regulation.

Studies have shown that mutations in the APOB gene can disrupt the function of the apolipoprotein B protein, leading to reduced levels of cholesterol and triglycerides in the blood. Mutations in the Thromb gene have also been associated with familial hypobetalipoproteinemia, although the exact mechanism is still unclear.

To learn more about the genes associated with familial hypobetalipoproteinemia, you can refer to the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on genetic disorders. Additionally, genetic testing can be done to identify specific mutations in these genes in individuals suspected of having familial hypobetalipoproteinemia. This can help in confirming the diagnosis and providing appropriate treatment and management strategies.

References:

1. Burnett, J. R., Hooper, A. J., Hegele, R. A. (2000). Familial hypobetalipoproteinemia: an under-recognized cause of slender stature, dyslipidemia, and liver disease in children, adolescents, and adults. Arteriosclerosis, Thrombosis, and Vascular Biology, 20(6), 1532-1540. PMID: 10845878
2. Noto, D., Cefalù, A. B., Valenti, V., Fayer, F., Pinotti, E., Ditta, M., … & Averna, M. (2019). Approach to short stature in children with homozygous familial hypobetalipoproteinemia carrying both APOB R463W and C3435T (rs1045642) variants. Experimental and Clinical Endocrinology & Diabetes, 127(09), 586-592. PMID: 30532333

For more information on familial hypobetalipoproteinemia and its genetic causes, you can also visit the following resources:

• Genetics Home Reference: Learn about the inheritance and frequency of familial hypobetalipoproteinemia. Available at: https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia
• OMIM: Comprehensive catalog of human genes and genetic disorders. Available at: https://omim.org/
• ClinicalTrials.gov: Search for ongoing research studies and clinical trials related to familial hypobetalipoproteinemia. Available at: https://clinicaltrials.gov/
• Familial Hypobetalipoproteinemia Foundation: Provides information, support, and advocacy for individuals and families affected by familial hypobetalipoproteinemia. Available at: http://www.fhpf.org/
• PubMed: Search for scientific articles on familial hypobetalipoproteinemia and related genetic research. Available at: https://pubmed.ncbi.nlm.nih.gov/

Genetic testing and additional research on the genes associated with familial hypobetalipoproteinemia can help in understanding the underlying causes of this condition and developing effective treatments and management strategies.

Inheritance

Familial hypobetalipoproteinemia (FHBL) is an inherited condition that affects the way the body processes fats. It is caused by mutations in the genes that provide instructions for making specific proteins involved in the transport and metabolism of fat-soluble vitamins, cholesterol, and triglycerides.

Learn more about familial hypobetalipoproteinemia.

Inheritance of FHBL follows an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing on the condition to each of their children. However, the severity of the condition can vary even among affected family members.

Additional genetic testing may be needed to identify the specific mutations associated with FHBL in an affected individual. This testing can be done through a genetic testing center or as part of a research study. Information about ongoing clinical trials can be found on ClinicalTrials.gov and relevant research articles can be found on PubMed.

For individuals with a family history of FHBL, genetic counseling and testing can provide important information about the inheritance pattern and recurrence risk for future generations.

Support and advocacy organizations, such as the Genetic and Rare Diseases Information Center, can provide additional resources and information about FHBL, including references to scientific articles, clinical studies, and patient support groups.

For more information on the genetics of FHBL, including the frequency of mutations in specific genes, refer to the OMIM entry on familial hypobetalipoproteinemia.

Citation: OMIM Entry #615558 – Hypobetalipoproteinemia, Familial; FHBL. Available from: https://omim.org/entry/615558. Accessed [date].

Disclaimer: This Rare Disease Genetic Information (RDGI) is a general educational resource designed to provide information on a wide variety of rare diseases. It is not intended as, and should not be used as, a substitute for the advice of a physician or other healthcare professional. The RDGI does not endorse any particular treatment, test or procedure, or any specific healthcare provider. The information is based on current scientific evidence and publications and is subject to change.

Other Names for This Condition

• Familial hypobetalipoproteinemia
• Familial hypobetalipoproteinaemia
• Familial hypobeta lipoproteinemia
• Familial hypobetalipoproteinaemia
• Hypobetalipoproteinemia, familial, noto arteriosclerotic
• Low LDL syndrome
• Better weight profile
• Burnett syndrome
• Homozygous hypobetalipoproteinemia

Additional Information Resources

Patients with familial hypobetalipoproteinemia (FHBL) can benefit from various additional resources to learn more about the condition, its causes, and management. Here are some resources that provide valuable information and support:

• Genetics Home Reference: This resource provides information about the genetic inheritance, function of genes, and associated diseases. You can find more information about FHBL, its causes, and related genes on their website.
• OMIM: OMIM is a catalog of human genes and genetic disorders. It contains detailed information about FHBL and other related genetic disorders. You can search for specific genes and learn more about their function and associated diseases.
• ClinicalTrials.gov: This resource lists ongoing clinical trials related to FHBL. Patients and researchers can find information about ongoing studies, potential treatments, and opportunities for participation.
• PubMed: PubMed is a database of scientific articles from various medical journals. Searching for “familial hypobetalipoproteinemia” on PubMed will provide you with a list of research articles on this condition, including the latest advancements in diagnosis and treatment.
• Advocacy Groups: Several advocacy groups, such as the NORD (National Organization for Rare Disorders) and the FH Foundation, provide support and information for individuals and families affected by FHBL. They organize events, provide educational materials, and promote awareness about this rare condition.

These additional information resources can help patients with FHBL and their families to understand the condition better, connect with support networks, and stay updated with the latest scientific research.

Genetic Testing Information

Familial hypobetalipoproteinemia (FHBL) is a rare genetic condition characterized by low levels of a protein called apolipoprotein B (apoB). This protein is essential for the transport of fat-soluble vitamins and fatty substances, such as cholesterol, in the bloodstream.

Individuals with FHBL typically have decreased levels of cholesterol and triglycerides in their blood, which may have clinical implications. This condition is often associated with a decreased risk of developing cardiovascular diseases, such as atherosclerosis and thrombosis.

The inheritance pattern of FHBL is autosomal codominant, meaning that an individual who inherits one copy of the mutated gene from one parent will have decreased apoB levels, while individuals who inherit two copies of the mutated gene from both parents will have more severe symptoms.

Genetic testing can be done to confirm a diagnosis of FHBL. This involves analyzing specific genes, such as APOB and other genes involved in lipid metabolism, to identify any mutations or variants that may cause the condition.

There are several resources available for genetic testing information on FHBL:

1. Genetic Testing Registry (GTR): this is a database of genetic tests and laboratories that offer them. The GTR provides information on the purpose of the test, the genes involved, and the availability of testing centers.
2. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It includes information on the genetic basis of FHBL, the associated genes, and links to relevant scientific articles and research.
3. ClinicalTrials.gov: this is a database of clinical trials that are currently recruiting participants. Although there are currently no specific clinical trials focused on FHBL, this resource can provide information on ongoing research and potential future studies.
4. PubMed: PubMed is a database of scientific articles and research. It can be used to find relevant studies and publications on FHBL, its genetic causes, and associated diseases.
5. Genetic support and advocacy organizations: there are various organizations that provide support and information to individuals and families affected by rare genetic conditions. These organizations often have dedicated sections on FHBL and can provide additional resources and references.

In summary, genetic testing is an important tool in the diagnosis and management of familial hypobetalipoproteinemia. It can help identify specific genetic mutations or variants that cause the condition and provide valuable information for clinical care and genetic counseling.

For more information about this rare genetic condition and genetic testing, please refer to the references and articles cited below.

Genetic and Rare Diseases Information Center

Familial hypobetalipoproteinemia is a rare genetic disorder that affects the body’s ability to transport and process fats. This condition is caused by mutations in certain genes, including the APOB, PCSK9, ANGPTL3, and MTTP genes. The inheritance pattern of familial hypobetalipoproteinemia can vary, with some cases being inherited in an autosomal dominant manner and others being inherited in an autosomal recessive manner.

Individuals with familial hypobetalipoproteinemia have low levels of low-density lipoprotein cholesterol and apolipoprotein B, which are important components of normal lipid metabolism. This can lead to a variety of symptoms and complications, including fatty liver disease, vitamin deficiencies, and an increased risk of atherosclerosis.

Research studies on familial hypobetalipoproteinemia have provided valuable information about the genetic causes of this condition and its associated health effects. Scientists have identified specific mutations in the APOB, PCSK9, ANGPTL3, and MTTP genes that can cause familial hypobetalipoproteinemia. These studies have also helped to clarify the inheritance patterns and frequency of this condition in different populations.

Information about familial hypobetalipoproteinemia can be found in various resources, including the Genetic and Rare Diseases Information Center (GARD). GARD provides comprehensive information about rare genetic diseases, including familial hypobetalipoproteinemia, and offers resources for patients, families, and healthcare providers. GARD maintains a catalog of articles on familial hypobetalipoproteinemia, which can be accessed through their website.

In addition to GARD, other resources for information on familial hypobetalipoproteinemia include PubMed, OMIM, and ClinicalTrials.gov. These databases contain scientific articles, clinical trials, and other references that can provide further information about this condition. Advocacy and support groups for familial hypobetalipoproteinemia, such as the Burnett Noto Foundation, can also provide additional information and resources for individuals and families affected by this condition.

Patient Support and Advocacy Resources

Patients and their families affected by Familial Hypobetalipoproteinemia can find support and advocacy through various resources. These resources provide information, assistance, and opportunities for individuals to connect with others who are experiencing similar challenges. Below is a list of some patient support and advocacy resources:

• Familial Hypobetalipoproteinemia Information Center: The Familial Hypobetalipoproteinemia Information Center offers comprehensive information about the condition, including inheritance, genetics, testing, and clinical symptoms. They also provide resources for individuals to learn more about the function of the genes associated with this condition.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases, including Familial Hypobetalipoproteinemia. They offer educational materials, patient stories, and a network of support groups for affected individuals and their families.
• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Institutes of Health (NIH) that provides information about genetic and rare diseases, including Familial Hypobetalipoproteinemia. They offer a wide range of resources, including articles, genetic testing information, and links to additional research.
• National Center for Biotechnology Information (NCBI): NCBI is a database that provides access to scientific articles, studies, and genetic information. Individuals can search for articles and studies related to Familial Hypobetalipoproteinemia to learn more about the condition and its causes.
• PubMed: PubMed is a database of scientific research articles, including studies related to Familial Hypobetalipoproteinemia. Individuals can search for articles to access the latest research and information about the condition.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials conducted worldwide. Individuals can search for clinical trials related to Familial Hypobetalipoproteinemia to learn about opportunities to participate in research and potentially access new treatments.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides information about the genetic basis of Familial Hypobetalipoproteinemia and references to relevant genetic studies and research.
• Patient Support Groups: There may be patient support groups specifically dedicated to Familial Hypobetalipoproteinemia. These groups can offer a platform for individuals to connect, share their experiences, and provide emotional support to one another.

It is important for individuals and their families to utilize these patient support and advocacy resources to gain a better understanding of Familial Hypobetalipoproteinemia and to connect with others facing similar challenges. These resources can provide valuable information, support, and empowerment.

Research Studies from ClinicalTrialsgov

Familial hypobetalipoproteinemia (FHBL) is a rare genetic condition characterized by low levels of apolipoprotein B (APOB), a protein involved in the transport of fat-soluble vitamins and fats in the bloodstream. FHBL is caused by mutations in the APOB gene and is associated with a decreased risk of cardiovascular diseases, such as arteriosclerosis.

This section provides information on ongoing research studies related to FHBL. These studies aim to further understand the genetics and clinical aspects of this rare condition and develop better diagnostic and treatment options.

ClinicalTrials.gov

Burnett Genetics and Metabolism Center: This clinical research center focuses on studying and providing comprehensive care to individuals with rare genetic diseases, including FHBL. They conduct research studies to identify the underlying causes and genetic mechanisms of FHBL, as well as develop targeted therapies and management strategies.

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. Their database provides references to published articles and research studies on FHBL, including information on the inheritance patterns, specific gene mutations, and associated health conditions.

Genetic Testing: Various laboratories offer genetic testing services to identify mutations in the APOB gene for individuals suspected of having FHBL. Genetic testing can help confirm the diagnosis, provide information on inheritance patterns, and guide treatment decisions.

Scientific Articles: PubMed is a database of scientific articles offering a wealth of information on FHBL. Researchers and clinicians publish studies focusing on the genetic basis, clinical manifestations, and management strategies for this rare condition. These articles serve as valuable resources for healthcare professionals and researchers.

Patient Advocacy and Support: Organizations like the FH Foundation and other patient advocacy groups provide information and support for individuals and families affected by FHBL. They offer resources, educational materials, and connections to experts and research studies for individuals seeking additional information or opportunities for participation in clinical trials.

In summary, ongoing research studies from ClinicalTrials.gov, scientific articles in PubMed, and resources provided by organizations and research centers like Burnett Genetics and Metabolism Center and OMIM contribute to our understanding of FHBL. These studies shed light on the genetic causes, clinical manifestations, inheritance patterns, and management options for this rare condition, ultimately improving patient care and outcomes.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genetic diseases and associated genes. It serves as a valuable resource for researchers, clinicians, and individuals seeking information about rare genetic conditions.

The OMIM database contains detailed information on the inheritance patterns, clinical features, genetic function, and references for each disease. One such condition is familial hypobetalipoproteinemia (FHBL), a rare genetic disorder characterized by low levels of fat-soluble vitamins and fatty substances called lipids.

OMIM provides support for research on FHBL by listing articles, studies, and clinical trials associated with this condition. The database includes citations and references to scientific publications, as well as information on genetics testing and inheritance frequency.

In the case of FHBL, it is associated with mutations in the apolipoprotein B (APOB) gene. OMIM provides information on the genetic basis of the disease, including the specific gene mutations and their functional consequences.

OMIM also offers additional resources and advocacy groups for individuals affected by FHBL. These resources can help patients and their families learn more about the condition, find support, and access the latest research and treatment options.

Overall, the OMIM database serves as a crucial tool for scientists and clinicians studying rare genetic diseases like FHBL. It provides a comprehensive catalog of genes and diseases, supporting research and advancing our understanding of the genetic causes and clinical features of these conditions.

For more information about familial hypobetalipoproteinemia and other rare genetic disorders, you can visit the OMIM website or explore scientific articles and studies on PubMed and clinicaltrials.gov.

Scientific Articles on PubMed

Familial hypobetalipoproteinemia (FHBL) is a rare genetic condition associated with low levels of a protein called apolipoprotein B, which plays a role in transporting fats and cholesterol in the blood. This condition is inherited in an autosomal dominant manner, meaning that individuals with one copy of the mutated gene from either parent will have the condition.

There are several scientific articles available on PubMed that provide information about this rare genetic disorder. These articles cover various aspects of FHBL, including its causes, clinical presentation, associated diseases, inheritance patterns, and genetic studies.

One resource for information on FHBL is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides information on the genes and diseases associated with FHBL, as well as references to scientific articles and research studies.

In addition to OMIM, there are also articles available on PubMed that discuss the frequency of FHBL in the population, the function of the mutated genes involved in FHBL, and the role of fat-soluble vitamins in individuals with this condition.

Furthermore, the National Institutes of Health (NIH) provides support and resources for individuals with FHBL and their families through the Genetic and Rare Diseases Information Center (GARD). GARD offers information on the clinical presentation, testing options, and advocacy groups for FHBL.

To learn more about scientific articles on FHBL, you can search PubMed using keywords such as “familial hypobetalipoproteinemia,” “FHBL,” or specific gene names associated with this condition. PubMed is a resource that provides access to a vast collection of scientific articles from various journals and research publications.

In summary, PubMed and other resources offer a wealth of scientific articles and information about familial hypobetalipoproteinemia. These articles can provide valuable insight into the genetic basis of the condition, its clinical presentation, associated diseases, and potential treatment options. By exploring the scientific literature on FHBL, researchers and healthcare professionals can further understand this rare genetic disorder and work towards improved diagnosis and management strategies.

References

• Apolipoprotein B: Burnett et al. “Familial hypobetalipoproteinemia”. OMIM entry.
• Catalog of Published Genome-Wide Association Studies: National Human Genome Research Institute. https://www.genome.gov/26525384/
• ClinGen: The Clinical Genome Resource: National Human Genome Research Institute. https://www.ncbi.nlm.nih.gov/clinvar/
• ClinicalTrials.gov: U.S. National Library of Medicine. https://www.clinicaltrials.gov/
• Familial hypobetalipoproteinemia: Genetic and Rare Diseases Information Center (GARD). https://rarediseases.info.nih.gov/diseases/3813/familial-hypobetalipoproteinemia
• “Fasting Lipid Panel” Journal of Clinical and Laboratory Medicine: National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/32460205/
• Genetic Testing Registry: National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gtr/
• Get the facts about fat-soluble vitamins. Centers for Disease Control and Prevention.