Familial lipoprotein lipase deficiency is a rare genetic condition that affects the body’s ability to break down lipoproteins, which are molecules that carry fats and cholesterol through the bloodstream. This deficiency is caused by mutations in the gene that produces lipoprotein lipase, an enzyme that helps break down these lipoproteins. As a result, individuals with this condition have a buildup of fatty deposits called xanthomas, which can cause a range of health problems.

Research on familial lipoprotein lipase deficiency has provided important scientific insights into the genetic basis of the condition and its associated health risks. Studies have identified specific gene mutations that are responsible for causing the deficiency, and have shed light on the mechanisms by which these mutations lead to the buildup of fatty deposits. This knowledge has led to the development of diagnostic testing methods and potential treatments for the condition.

While familial lipoprotein lipase deficiency is a rare condition, it is important for individuals and healthcare providers to learn about this disorder and the genetic problems associated with it. By staying informed, individuals can better understand the condition, its inheritance patterns, and available resources for support and additional information. There are several scientific articles and resources available that provide more in-depth information on familial lipoprotein lipase deficiency, including the OMIM and Pubmed databases, as well as advocacy and support organizations such as the Genetic and Rare Diseases Information Center.

More research and clinical studies are needed to further understand the frequency and causes of familial lipoprotein lipase deficiency, as well as to develop more effective treatments for affected individuals. The ClinicalTrials.gov database is a valuable resource for finding ongoing studies and clinical trials related to this condition. This research is crucial in improving the understanding and management of familial lipoprotein lipase deficiency, and ultimately, the health outcomes for patients with this rare genetic disease.

Frequency

Familial lipoprotein lipase deficiency is a rare genetic condition that is caused by mutations in the lipoprotein lipase (LPL) gene. The frequency of this condition is estimated to be less than 1 in 1 million people worldwide.

The LPL gene provides instructions for making an enzyme called lipoprotein lipase. This enzyme is responsible for breaking down certain types of fats called lipoproteins. Lipoproteins are particles that transport fats and cholesterol in the bloodstream. A deficiency of lipoprotein lipase can lead to an accumulation of fatty deposits in various tissues throughout the body.

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In individuals with familial lipoprotein lipase deficiency, the frequency of disease-causing mutations in the LPL gene is relatively high. Testing for these mutations can help confirm a diagnosis of this rare condition. Genetic testing is usually performed on a blood sample to look for changes or mutations in the LPL gene.

It is important to note that familial lipoprotein lipase deficiency is different from other genetic conditions that affect lipoproteins, such as familial hypercholesterolemia and familial combined hyperlipidemia. Although these conditions may have similar symptoms and overlap in some cases, they are caused by mutations in different genes.

Familial lipoprotein lipase deficiency can cause a range of health problems, including recurrent pancreatitis, eruptive xanthomas (fatty deposits under the skin), and increased risk of cardiovascular disease. Additional information about the genetics of this condition can be found on the OMIM website.

Research studies and scientific articles published on PubMed offer more information about this rare condition. The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) and other advocacy and support organizations can also provide resources and information for patients and their families.

References

  1. Genetic and Rare Diseases Information Center (GARD). Familial lipoprotein lipase deficiency. Retrieved from https://rarediseases.info.nih.gov/diseases/6403/familial-lipoprotein-lipase-deficiency

  2. Online Mendelian Inheritance in Man (OMIM). Familial lipoprotein lipase deficiency. Retrieved from https://www.omim.org/entry/238600

  3. PubMed. Search results for “familial lipoprotein lipase deficiency”. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=familial+lipoprotein+lipase+deficiency

  4. ClinicalTrials.gov. Search results for “familial lipoprotein lipase deficiency”. Retrieved from https://clinicaltrials.gov/ct2/results?cond=familial+lipoprotein+lipase+deficiency

Causes

Familial lipoprotein lipase deficiency is a rare genetic condition that is caused by mutations in the LPL gene. Lipoprotein lipase (LPL) is an enzyme that plays a crucial role in breaking down lipoproteins, which are the fats carried in the blood. When there is a deficiency of LPL, lipoproteins are not properly broken down, leading to their accumulation in the blood and causing various health problems.

The LPL gene is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for a person to be affected by the condition. If only one copy of the gene is mutated, the person is considered a carrier and does not experience symptoms.

Research has shown that there are many different mutations in the LPL gene that can cause familial lipoprotein lipase deficiency. These mutations can affect the production or function of the lipoprotein lipase enzyme, resulting in the characteristic symptoms of the condition.

According to studies published in PubMed and other scientific resources, the frequency of familial lipoprotein lipase deficiency is estimated to be around 1 in 1 million people. This makes it an extremely rare condition.

The accumulation of lipoproteins in the blood can lead to various health problems, including xanthomas (fatty deposits under the skin), pancreatitis (inflammation of the pancreas), and hypertriglyceridemia (high levels of triglycerides in the blood).

Genetic testing can confirm a diagnosis of familial lipoprotein lipase deficiency by identifying mutations in the LPL gene. Testing can also help determine the specific mutation present in a patient, which can provide additional information about the severity of the condition and the associated health risks.

There is currently no cure for familial lipoprotein lipase deficiency, but treatment options aim to manage the symptoms and reduce the risk of complications. This may involve lifestyle modifications, such as following a low-fat diet and avoiding certain medications that can worsen triglyceride levels. In some cases, medication or medical procedures may be necessary to control symptoms and prevent complications.

For more information about familial lipoprotein lipase deficiency, you can visit resources such as OMIM (Online Mendelian Inheritance in Man), the Genetic and Rare Diseases Information Center, and patient advocacy organizations. ClinicalTrials.gov may also provide information about ongoing research studies and clinical trials related to the condition.

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Learn more about the gene associated with Familial lipoprotein lipase deficiency

Familial lipoprotein lipase deficiency is a rare genetic disorder that affects the body’s ability to break down certain fats. This condition is caused by mutations in the gene encoding lipoprotein lipase, an enzyme that helps break down lipoproteins in the body.

The gene associated with Familial lipoprotein lipase deficiency is called LPL. LPL is located on chromosome 8 and provides instructions for making the lipoprotein lipase enzyme. Mutations in this gene can lead to a loss or reduced function of lipoprotein lipase, resulting in the accumulation of fatty substances called chylomicrons and triglycerides in the blood.

Patients with Familial lipoprotein lipase deficiency may experience symptoms such as xanthomas – yellowish, fatty skin deposits, abdominal pain, recurrent pancreatitis, and other health problems related to the abnormal accumulation of lipoproteins in the body.

To diagnose Familial lipoprotein lipase deficiency, genetic testing can be done to identify mutations in the LPL gene. This testing can also help determine if other genes associated with similar conditions, such as APOC2 and GPIHBP1, are also involved.

There are resources available for patients and families affected by Familial lipoprotein lipase deficiency. The Genetic and Rare Diseases Information Center and Online Mendelian Inheritance in Man (OMIM) provide reliable information about the condition, including causes, inheritance patterns, and available treatments.

ClinicalTrials.gov is a valuable resource for finding ongoing research studies and clinical trials related to Familial lipoprotein lipase deficiency. These studies may provide additional information about the genetic and clinical aspects of the condition, as well as potential new treatments and interventions.

Advocacy organizations and support groups, such as Lipoprotein Lipase Deficiency (LPLD) Community, can also provide support, education, and resources for patients and families dealing with this rare disease.

In conclusion, Familial lipoprotein lipase deficiency is a rare genetic disorder caused by mutations in the LPL gene. The gene provides instructions for making the lipoprotein lipase enzyme, which is responsible for breaking down lipoproteins in the body. Patients with this condition may experience a range of health problems related to the abnormal accumulation of lipoproteins. Genetic testing and resources from reputable organizations can provide valuable information and support for individuals and families affected by this rare disease.

Inheritance

Familial lipoprotein lipase deficiency is an inherited disorder. It is caused by mutations in the LPL gene, which provides instructions for making the lipoprotein lipase enzyme. This gene is located on chromosome 8. Individuals inherit two copies of the gene, one from each parent.

When both copies of the LPL gene are mutated, lipoprotein lipase activity is reduced or absent. This leads to problems with the breakdown of lipoproteins, which are particles that transport fats and cholesterol in the bloodstream. As a result, levels of fat in the blood become very high, leading to the formation of xanthomas (fatty deposits under the skin) and other symptoms associated with familial lipoprotein lipase deficiency.

The inheritance pattern of familial lipoprotein lipase deficiency is autosomal recessive. This means that both parents of an affected individual are usually carriers of the mutated gene, but they do not typically show any symptoms of the condition themselves.

Carrier testing for familial lipoprotein lipase deficiency can be done to identify individuals who have one mutated copy of the LPL gene. This testing can be helpful for family planning purposes, as it allows individuals to determine their risk of having a child with the condition.

There is currently no cure for familial lipoprotein lipase deficiency, but there are management strategies that can help control symptoms and reduce the risk of complications. Treatment often involves dietary modifications, such as following a low-fat diet, and medication to lower lipid levels in the blood.

For more information about familial lipoprotein lipase deficiency, you can visit the following resources:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about the genetic causes and inheritance patterns of rare genetic diseases, including familial lipoprotein lipase deficiency.
  • PubMed: This online database of scientific articles contains a wealth of information on familial lipoprotein lipase deficiency. You can search for specific articles on topics such as the clinical features, diagnosis, and treatment of the condition.
  • ClinicalTrials.gov: This database provides information on ongoing and completed clinical trials for familial lipoprotein lipase deficiency. These studies may provide additional information on the causes, symptoms, and treatment of the condition.
  • Lipoprotein Lipase Deficiency Advocacy: This advocacy organization provides support and resources for individuals and families affected by familial lipoprotein lipase deficiency. Their website contains information about the condition, research updates, and ways to get involved in advocacy efforts.

By learning more about the inheritance and causes of familial lipoprotein lipase deficiency, individuals and families affected by this condition can better understand their risk and access the resources they need to support their health and well-being.

Other Names for This Condition

Familial lipoprotein lipase deficiency is a rare genetic disorder that causes problems with the body’s ability to break down fats and lipoproteins. It is also known by the following names:

  • Familial LPL Deficiency
  • Lipoprotein Lipase Deficiency
  • Lipoprotein Lipase (LPL) Deficiency
  • Hyperchylomicronemia due to Lipoprotein Lipase Deficiency
  • Hyperlipoproteinemia Type I
  • Lipoprotein Lipase Deficiency (LPLD)
  • LPL Deficiency
  • LPLD

In cases of familial lipoprotein lipase deficiency, the gene responsible for producing lipoprotein lipase (LPL) is mutated. This mutation can lead to the buildup of fatty deposits, known as xanthomas, in various tissues of the body.

For more information about this condition, including its inheritance pattern, clinical features, and genetic testing, you can visit these online resources:

  • Genetic and Rare Diseases Information Center (GARD): Provides information about familial lipoprotein lipase deficiency, including its frequency, inheritance, clinical features, and more.
  • OMIM (Online Mendelian Inheritance in Man): Offers detailed scientific information, including research articles and clinical studies, about familial lipoprotein lipase deficiency and the associated gene.
  • PubMed: A database of scientific research articles that can provide further information on the genetic and clinical aspects of familial lipoprotein lipase deficiency.
  • ClinicalTrials.gov: Catalogs ongoing and completed clinical studies related to familial lipoprotein lipase deficiency.
  • Lipase Deficiency Patient Support and Advocacy Resources: Provides additional support, resources, and information for patients and their families affected by familial lipoprotein lipase deficiency.
  • Lipoprotein Lipase Deficiency Research Studies: Get information on research studies happening around the world focused on familial lipoprotein lipase deficiency and related conditions.

Additional Information Resources

For additional information about Familial lipoprotein lipase deficiency, the following resources may be helpful:

  • This patient information page from the National Organization for Rare Disorders provides an overview of the condition and its symptoms (source).
  • Other scientific articles and studies can be found on PubMed, a database of scientific publications (source).
  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics and inheritance of Familial lipoprotein lipase deficiency (source).
  • Genetic testing for genes associated with Familial lipoprotein lipase deficiency can be done through specialized laboratories and genetic testing centers. It is important to consult with a healthcare provider for more information on available testing options and centers.
  • The National Lipid Association offers resources for patients and healthcare professionals on lipoprotein lipase deficiency and related conditions (source).
  • ClinicalTrials.gov is a database of clinical trials, which can provide information on ongoing research studies and potential treatment options for Familial lipoprotein lipase deficiency (source).
  • Advocacy organizations such as the National Organization for Rare Disorders and the Lipoprotein Lipase Deficiency Foundation can provide support, resources, and advocacy for individuals and families affected by this condition.
    Learn more about Lipoprotein Lipase Deficiency Foundation here.
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These resources can provide more information on the rarity, causes, associated problems, and available testing and treatment options for Familial lipoprotein lipase deficiency. It is important to consult with healthcare professionals and to stay informed about the latest research and scientific developments in the field.

Genetic Testing Information

Familial lipoprotein lipase deficiency is a rare condition caused by mutations in the lipoprotein lipase gene. Genetic testing can be used to diagnose this condition and identify the specific gene mutations involved.

Lipoprotein lipase is an enzyme that helps break down fats in the body. Mutations in the lipoprotein lipase gene can lead to a deficiency of this enzyme, resulting in high levels of triglycerides and other lipoproteins in the blood.

Genetic testing for familial lipoprotein lipase deficiency can be done through various methods, including DNA sequencing and gene panel testing. These tests can identify mutations in the lipoprotein lipase gene and provide information about the inheritance pattern of the condition.

Patients with familial lipoprotein lipase deficiency may experience symptoms such as abdominal pain, pancreatitis, and xanthomas (fatty deposits under the skin). Genetic testing can help confirm the diagnosis and guide treatment decisions.

Additionally, genetic testing can provide information about the frequency of this condition in the population and help researchers learn more about the causes and associated health problems. It can also help identify other genes that may be associated with familial lipoprotein lipase deficiency.

For more information about familial lipoprotein lipase deficiency and genetic testing, refer to the following resources:

These resources provide a wealth of information about familial lipoprotein lipase deficiency, including genetic testing, treatment options, and ongoing research studies.

Patients and their families can also seek support and advocacy from organizations that specialize in rare genetic diseases, such as the Lipoprotein Lipase Deficiency Foundation.

In conclusion, genetic testing is a valuable tool for diagnosing familial lipoprotein lipase deficiency and understanding the genetic basis of this rare condition. It can provide patients with important information about their health and help guide treatment decisions.

Genetic and Rare Diseases Information Center

Familial lipoprotein lipase deficiency is a rare genetic condition characterized by the body’s inability to break down certain fats called lipoproteins. It is also known as familial chylomicronemia syndrome.

This condition is caused by mutations in the LPL gene, which provides instructions for making the lipoprotein lipase enzyme. Lipoprotein lipase is responsible for breaking down lipoproteins, which are molecules that help transport fats throughout the body. Without enough functional lipoprotein lipase, these lipoproteins build up in the bloodstream, leading to the formation of fatty deposits called xanthomas.

Family studies have shown that this condition is typically inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated LPL gene, one from each parent, in order to develop the condition.

Signs and symptoms of familial lipoprotein lipase deficiency may include recurrent episodes of abdominal pain, pancreatitis, and eruptive xanthomas. Eruptive xanthomas are small, yellowish-orange bumps that develop on the skin’s surface and are caused by the accumulation of fat deposits under the skin.

Diagnosis of familial lipoprotein lipase deficiency is typically based on the symptoms presented, a clinical evaluation, and various laboratory tests. Genetic testing can also be used to confirm the presence of a mutation in the LPL gene.

Treatment for familial lipoprotein lipase deficiency focuses on managing symptoms and preventing complications. This may involve dietary changes, such as following a low-fat diet, as well as the use of medications to help control blood lipid levels.

Families and individuals affected by familial lipoprotein lipase deficiency may find support and advocacy through various rare disease advocacy organizations. These organizations can provide additional resources and information for patients and their families.

For more information about familial lipoprotein lipase deficiency and related rare diseases, please visit the websites of the Genetic and Rare Diseases Information Center (GARD), OMIM (Online Mendelian Inheritance in Man), and clinicaltrialsgov.

References:

  • Genetic and Rare Diseases Information Center (GARD)
  • OMIM (Online Mendelian Inheritance in Man)
  • clinicaltrialsgov

Patient Support and Advocacy Resources

Living with familial lipoprotein lipase deficiency can be challenging, but there are resources available to provide support and advocacy for patients and their families. Here are some helpful resources:

  • Lipoprotein Lipase Deficiency Foundation: This nonprofit organization aims to improve the health and quality of life for individuals with familial lipoprotein lipase deficiency. They provide educational resources, support services, and connect patients with clinical trials and research studies. Visit their website to learn more.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides comprehensive information on familial lipoprotein lipase deficiency. It includes scientific articles, genetic testing information, and additional resources for patients and healthcare professionals.
  • PubMed: PubMed is a valuable resource for accessing scientific articles and research studies related to familial lipoprotein lipase deficiency. By searching with specific keywords, you can find the latest information on genetic causes, health effects, and treatment options.
  • Genetic Testing: Genetic testing can help identify individuals with familial lipoprotein lipase deficiency. Talk to your healthcare provider to learn more about genetic testing options and how they can provide valuable information about the condition and its inheritance.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical trials. By searching with keywords like familial lipoprotein lipase deficiency, you can find ongoing or upcoming research studies and clinical trials that may be relevant to your condition. Participation in clinical trials can contribute to advancements in knowledge and treatment options.
  • Xanthomas: Xanthomas are fatty deposits that can form on the skin or other tissues in individuals with familial lipoprotein lipase deficiency. Understanding the causes and management of xanthomas can help improve overall health. Consult with your healthcare provider for more information on preventive measures and treatment options.

By utilizing these resources, patients and their families can gain a better understanding of familial lipoprotein lipase deficiency, connect with others facing similar challenges, and advocate for their health and well-being.

Research Studies from ClinicalTrialsgov

Research studies are being conducted on familial lipoprotein lipase deficiency to learn more about the causes, genetic inheritance, associated health problems, and available treatments. These studies aim to provide additional information and support to patients and healthcare professionals dealing with this rare condition.

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One of the main resources for research studies on familial lipoprotein lipase deficiency is ClinicalTrialsgov. This online database provides information about ongoing clinical trials and research studies related to various diseases and conditions, including familial lipoprotein lipase deficiency.

On ClinicalTrialsgov, you can find names of studies, descriptions, and contact information for researchers and study centers. These studies focus on different aspects of familial lipoprotein lipase deficiency, including the genetic causes, health problems associated with the condition, and the frequency of occurrence in different populations.

In addition to ClinicalTrialsgov, there are other resources available for learning about familial lipoprotein lipase deficiency. One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about the genetic basis of diseases. OMIM includes articles, references, and patient advocacy information related to familial lipoprotein lipase deficiency.

Genetic testing plays a crucial role in diagnosing familial lipoprotein lipase deficiency. This testing analyzes the genes responsible for the production of lipoprotein lipase, a key enzyme that helps the body break down fats. If a mutation is identified in the lipoprotein lipase gene, it confirms the presence of familial lipoprotein lipase deficiency.

Patients with familial lipoprotein lipase deficiency often experience symptoms such as fatty deposits in the skin and other tissues, known as xanthomas. These deposits can cause health problems and complications. Research studies aim to better understand the frequency and severity of these symptoms in affected individuals.

By conducting research studies, scientists hope to gather scientific evidence that can lead to improved diagnosis and treatment options for individuals with familial lipoprotein lipase deficiency. These studies provide valuable information for healthcare professionals, patients, and their families.

Overall, research studies from ClinicalTrialsgov and other resources are crucial in advancing our understanding of familial lipoprotein lipase deficiency and improving the quality of care for individuals with this rare genetic condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with Familial Lipoprotein Lipase Deficiency (FLD). FLD is a rare genetic condition that affects the body’s ability to break down fats.

FLD is caused by mutations in the lipoprotein lipase gene (LPL). This gene codes for the lipase enzyme, which is responsible for breaking down lipoproteins, a type of fat found in the body. Mutations in the LPL gene result in a deficiency of lipoprotein lipase, leading to the buildup of fatty deposits called xanthomas.

Xanthomas are yellowish, waxy deposits that can form under the skin, in the muscles, and around other body tissues. These deposits are a characteristic feature of FLD and can cause various health problems.

Familial Lipoprotein Lipase Deficiency has an estimated frequency of 1 in 1,000,000 individuals in certain populations. It follows an autosomal recessive pattern of inheritance, meaning that both copies of the LPL gene must be mutated for a person to develop FLD.

Diagnosis of FLD can be confirmed through genetic testing, which looks for mutations in the LPL gene. Additional clinical information and resources can be found on OMIM, as well as references to scientific articles, research studies, and clinical trials related to FLD.

The OMIM catalog also provides information on other genes and diseases that are associated with lipoprotein lipase deficiency. These include rare genetic conditions such as Hyperlipidemia, Type I, and Lipase Maturation Factor 1 Deficiency.

Support and advocacy resources for patients and families affected by FLD can be found through organizations such as the Lipoprotein Lipase Deficiency Foundation. They provide information on the condition, support groups, and guidance on managing the symptoms and complications associated with FLD.

For more information about Familial Lipoprotein Lipase Deficiency and related genetic conditions, please visit the OMIM catalog and consult with healthcare professionals.

  1. OMIM – Familial Lipoprotein Lipase Deficiency
  2. OMIM – Lipoprotein Lipase Deficiency
  3. PUBMED – Scientific articles on Familial Lipoprotein Lipase Deficiency
  4. ClinicalTrials.gov – Clinical trials related to FLD
References:

Scientific Articles on PubMed

Patient cases of familial lipoprotein lipase deficiency (also known as familial chylomicronemia syndrome) can be found on the OMIM catalog. Inheritance of this rare genetic disorder is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to be present.

Genes associated with familial lipoprotein lipase deficiency are LPL, APOC2, GPIHBP1, and LMF1. Patients can find more information about genetic testing for this and other rare genetic diseases from resources such as NIH’s Genetic Testing Registry or the OMIM catalog.

Scientific articles on PubMed provide valuable information about familial lipoprotein lipase deficiency and its associated health problems. These articles often include studies on the frequency, clinical presentation, and support for patients with this condition. They can also provide information on other genetic conditions that have similar symptoms or affect lipid metabolism.

Some common clinical features of familial lipoprotein lipase deficiency include recurrent pancreatitis, eruptive xanthomas, and lipemia retinalis. These symptoms are caused by the impaired breakdown of lipoproteins, which leads to the accumulation of fatty deposits in various tissues of the body.

PubMed is a valuable resource for learning about the current research on familial lipoprotein lipase deficiency. Researchers can find articles on the identification and characterization of the LPL gene, as well as studies on the genetics and biochemistry of the disease. These articles can provide additional references and support for further research in the field.

Advocacy organizations and patient support groups can also provide valuable information and resources for patients with familial lipoprotein lipase deficiency. These organizations can help patients find clinical trials, connect with other patients, and learn more about managing their condition.

In conclusion, PubMed is a valuable resource for finding scientific articles on familial lipoprotein lipase deficiency and related genetic disorders. These articles can provide information on the genetic basis, clinical presentation, and management of the disease, as well as support resources for patients and researchers.

References