Familial Partial Lipodystrophy: Causes, Symptoms, and Treatment

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Familial partial lipodystrophy is a rare genetic condition that is characterized by abnormal distribution of fats in various parts of the body. This condition is associated with a number of serious medical problems, including liver disease and other metabolic abnormalities.

Familial partial lipodystrophy is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. This condition is caused by mutations in a gene that plays a role in the storage and use of fats in the body.

Most cases of familial partial lipodystrophy are caused by mutations in the LMNA gene. However, mutations in other genes, such as PPARG and AKT2, have also been associated with this condition.

Individuals with familial partial lipodystrophy often have a loss of fat in the limbs and trunk, while fat accumulates in other areas of the body, such as the face and neck. This abnormal fat distribution can lead to a number of medical complications, including insulin resistance, diabetes, and high blood lipid levels.

There is currently no cure for familial partial lipodystrophy, and treatment focuses on managing the symptoms and associated medical problems. Clinical trials and research studies are ongoing, with the goal of better understanding the condition and developing new treatment options. For more information on familial partial lipodystrophy, its causes, and available resources, you can visit the websites of advocacy organizations, scientific research centers, and genetic testing providers.

References:

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– “Familial partial lipodystrophy”. OMIM. Retrieved from https://www.omim.org/entry/151660

– “Familial partial lipodystrophy”. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/familial-partial-lipodystrophy

– “Familial partial lipodystrophy”. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=familial+partial+lipodystrophy

– “Familial partial lipodystrophy”. ClinicalTrials.gov. Retrieved from https://www.clinicaltrials.gov/

– “Lipodystrophy, familial partial, 3; FPLD3”. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/604367

Frequency

Familial partial lipodystrophy, also known as FPL, is a rare genetic condition that affects the way the body stores and distributes fat. It is estimated to affect around 1 in every 10 million people worldwide.

The condition is caused by genetic mutations in specific genes. Most cases of FPL have been associated with mutations in the LMNA gene. Other genes, such as PPARG, AKT2, and PLIN1, have also been linked to the condition.

Due to its rarity, there are limited studies and resources available on the frequency of FPL. However, scientific articles and case studies support the idea that this condition is a predominantly autosomal dominant disorder. This means that an affected individual has a 50% chance of passing the mutation to each of their children.

FPL is more commonly diagnosed in women during adulthood. However, men can also be affected by this condition. Symptoms may vary from patient to patient, but some of the common features associated with FPL include abnormal fat distribution, such as loss of fat in the limbs and buttocks and accumulation of fat in the face, neck, and trunk.

Some of the other symptoms and problems associated with FPL include insulin resistance, diabetes, hepatomegaly (enlarged liver), hypertriglyceridemia (high levels of triglycerides in the blood), and acanthosis nigricans (dark, thickened patches of skin).

Genetic testing is typically recommended for individuals suspected of having FPL, as it can provide a definitive diagnosis. There are also additional resources available for patients and families affected by FPL, such as support groups and advocacy organizations.

For more information about FPL, its causes, genetic inheritance patterns, and clinical resources, refer to the following:

Online Mendelian Inheritance in Man (OMIM) database: Available at www.omim.org
ClinicalTrials.gov: Available at www.clinicaltrials.gov
PubMed: Available at www.pubmed.ncbi.nlm.nih.gov
International Lipodystrophy & Adipose Tissue Society (ILAS): Available at www.ilas.org

It is important for individuals with FPL and their families to work closely with healthcare professionals and genetic counselors to better understand the condition and explore available treatment options.

Causes

Familial partial lipodystrophy is a rare genetic disorder characterized by the abnormal storage and distribution of body fats. It can be caused by mutations in several different genes. The most common genetic cause of this condition is a mutation in the LMNA gene, which provides instructions for making a protein called lamin A/C. Other genes associated with familial partial lipodystrophy include the PPARG gene, the AKT2 gene, and the CIDEC gene.

The exact cause of familial partial lipodystrophy is not fully understood, but it is thought to be a result of problems with the function of certain genes that regulate the storage and distribution of body fats.

The frequency of familial partial lipodystrophy is unknown, but it is considered a rare condition. Genetic testing can be done to confirm a diagnosis and determine the specific genetic cause of the condition.

Research on familial partial lipodystrophy is ongoing, and there are several scientific studies and clinical trials that are investigating the causes, symptoms, and treatments of this condition.

For more information about familial partial lipodystrophy and other related diseases, resources and advocacy groups such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov can provide additional support and information.

Some associated conditions and abnormalities that may be present in individuals with familial partial lipodystrophy include acanthosis nigricans, liver problems, insulin resistance, and metabolic disorders.

Familial partial lipodystrophy is typically inherited in an autosomal dominant manner, which means that one copy of the causative gene mutation is sufficient to cause the condition. However, there are also cases where the condition is inherited in an autosomal recessive manner, which means that two copies of the causative gene mutation are needed to cause the condition.

Learn more about the gene associated with Familial partial lipodystrophy

In the case of Familial partial lipodystrophy, the condition is caused by genetic mutations that result in abnormalities in the way the body stores fats. This rare condition is typically inherited in an autosomal recessive manner.

One of the genes associated with Familial partial lipodystrophy is called VAT1ER. Mutations in this gene have been found to be the most common cause of the condition.

Inheritance

Familial partial lipodystrophy, also known as FPLD, is an autosomal dominant genetic condition. This means that only one copy of the faulty gene is needed for a person to develop the condition. It is caused by abnormalities in specific genes that affect the way the body stores fat.

There are several types of FPLD, each caused by mutations in different genes. The most common types are FPLD2 and FPLD3, caused by mutations in the LMNA and PPARG genes, respectively. Other less common types include FPLD1 and FPLD4, caused by mutations in the PLIN1 and CIDEC genes, respectively.

These gene mutations lead to a loss of fat in certain parts of the body, such as the arms, legs, and buttocks, while causing an abnormal accumulation of fat in other areas, such as the face and neck. This can result in cosmetic and health problems for affected individuals.

FPLD is a rare condition, with a frequency of less than 1 in 1,000,000 individuals. It is more common in women than in men. The condition typically presents in adolescence or early adulthood.

Inheritance of FPLD can be complicated and may vary depending on the specific gene mutation involved. In some cases, the condition can be inherited from an affected parent. However, in other cases, the gene mutation may occur spontaneously in an individual with no family history of the condition.

Genetic testing is available to diagnose FPLD and identify the specific gene mutation causing the condition. This can be helpful for confirming the diagnosis, as well as providing information about recurrence risks for affected individuals and their families.

Research on the genetic causes and underlying mechanisms of FPLD is ongoing. Scientists are studying the function of the affected genes and exploring potential treatment options. Clinical trials and other research studies are actively seeking participants to learn more about the condition and develop better management strategies.

For more information about FPLD, genetic testing, and resources for support, the following references and resources can be helpful:

OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic disorders
PubMed: a database of scientific articles about genetic disorders and diseases
ClinicalTrials.gov: a registry of clinical trials and research studies
Advocacy organizations and patient support groups: these organizations can provide more information and support for individuals and families affected by FPLD or other lipodystrophy disorders

Other Names for This Condition

Familial partial lipodystrophy, also known as Dunnigan-type familial partial lipodystrophy, is a rare genetic condition characterized by abnormal storage and distribution of fats in different parts of the body. It is associated with genetic abnormalities in certain genes that regulate lipid metabolism and adipocyte (fat cell) function.

There are several other names used to refer to this condition, including:

Dunnigan lipodystrophy
FPLD
Adipodystrophy
Familial partial lipodystrophy type 2
FPLD2
LPL deficiency type 2

Familial partial lipodystrophy is a rare condition with a frequency of less than 1 in 10,000 individuals. It is usually inherited in an autosomal dominant manner, which means that individuals with a single copy of the mutated gene are affected. However, there have been few cases reported with autosomal recessive inheritance.

Most cases of familial partial lipodystrophy are caused by mutations in the LMNA gene, which provides instructions for making the lamin A/C protein. Mutations in the PPARG and PLIN1 genes have also been associated with this condition in some patients.

To learn more about familial partial lipodystrophy and its causes, inheritance pattern, and clinical features, you can visit the following resources:

OMIM: A comprehensive catalog of human genes and genetic disorders
PubMed: A database of scientific articles on biomedical topics
ClinicalTrials.gov: A database of ongoing clinical studies and trials

In addition, there are several advocacy and support resources available for individuals and families affected by familial partial lipodystrophy. These resources provide information, education, and support to help patients manage their condition:

Lipodystrophy United: A patient advocacy organization
Lipodystrophy UK: A UK-based patient support organization

Consulting with a healthcare professional or genetic counselor is advised for individuals with familial partial lipodystrophy to understand their specific case, genetic testing options, and personalized management strategies.

Additional Information Resources

The following resources provide additional information on Familial partial lipodystrophy:

Genetics Home Reference: This website provides information about the genetic causes and inheritance patterns of familial partial lipodystrophy. It also includes information about the signs and symptoms of the condition, as well as available genetic testing.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information on the genetic basis of human diseases. It includes detailed summaries of research articles and clinical reports on familial partial lipodystrophy.
NIH Genetic Testing Registry: This online resource provides information about genetic tests for familial partial lipodystrophy. It includes information on the availability of testing, as well as the genes and mutations that can cause the condition.
NORD (National Organization for Rare Disorders): NORD is a patient advocacy organization that provides information and resources for rare diseases. Their website includes a catalog of rare diseases, including familial partial lipodystrophy, and provides information on support services and research opportunities.
ClinicalTrials.gov: This website provides information on clinical trials for familial partial lipodystrophy. It includes information on ongoing studies, as well as eligibility criteria and contact information for participating centers.
PubMed: PubMed is a database of scientific research articles. Searching for “familial partial lipodystrophy” on PubMed will provide access to the latest research studies on the condition, as well as information on associated disorders and genes involved in lipid storage and metabolism.

Genetic Testing Information

Familial partial lipodystrophy is a rare genetic condition characterized by the abnormal distribution of body fats, causing certain parts of the body to have reduced or absent fat. This condition is also known as Dunnigan-type familial partial lipodystrophy or Berardinelli-Seip congenital lipodystrophy type 2.

The condition is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutated gene onto each of their children. It is caused by mutations in the LMNA gene or the PPARG gene.

Genetic testing can be performed to confirm a diagnosis of familial partial lipodystrophy. The testing involves analyzing the patient’s genes to identify any mutations or variations that are associated with the condition. This information can help healthcare providers understand the underlying cause of the patient’s symptoms and guide treatment decisions.

Genetic testing for familial partial lipodystrophy can be done in specialized laboratories. It is important for individuals considering testing to consult with a healthcare professional or a genetic counselor to understand the benefits and limitations of the test, as well as the potential impact of the results.

For more information about genetic testing for familial partial lipodystrophy, individuals can seek resources from advocacy groups and scientific research organizations. Websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed may also provide references to articles and studies about the condition and associated genetic abnormalities.

In addition to genetic testing, clinical trials may be available for individuals with familial partial lipodystrophy. ClinicalTrials.gov is a valuable resource for finding information about ongoing trials and research studies related to the condition.

It is important to note that individuals with familial partial lipodystrophy may also experience other health problems, such as liver disorders and insulin resistance. These conditions can have a significant impact on the patient’s overall health and require appropriate medical management.

Women with familial partial lipodystrophy may have additional concerns, as the condition can affect their reproductive health. Consultation with a healthcare professional or genetic counselor can provide support and guidance in managing these aspects of the condition.

Understanding the genetic basis of familial partial lipodystrophy can help individuals and their healthcare providers make informed decisions regarding treatment and management. Genetic testing provides valuable information about the underlying causes of the condition and can support the development of personalized care plans.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by familial partial lipodystrophy and other rare genetic disorders. GARD provides trustworthy and up-to-date information about the causes, symptoms, inheritance pattern, diagnosis, and management of various rare diseases.

Familial partial lipodystrophy is a type of lipodystrophy, a group of disorders characterized by the abnormal distribution of fats in the body. In familial partial lipodystrophy, fat is lost from certain parts of the body, mainly from the limbs and buttocks, and may accumulate in other areas such as the face and neck. This condition typically appears during late childhood or adolescence and becomes more pronounced in adulthood.

Genetic mutations in specific genes are associated with familial partial lipodystrophy. These mutations can either be autosomal dominant or autosomal recessive, meaning that they can be inherited from one or both parents. The specific genes associated with familial partial lipodystrophy include LMNA, PPARG, AKT2, and CIDEC.

Individuals with familial partial lipodystrophy may experience a range of symptoms, including insulin resistance, metabolic abnormalities, hypertriglyceridemia, and acanthosis nigricans. These symptoms can lead to various health problems, such as diabetes, liver disease, and cardiovascular complications.

GARD provides comprehensive information about the clinical features and management of familial partial lipodystrophy, including available treatments, supportive care measures, and ongoing research studies. GARD also offers resources for genetic testing and counseling, as well as links to additional support and advocacy organizations.

For more information about familial partial lipodystrophy and other related genetic disorders, visit the GARD website at [insert GARD website link] or contact the GARD Information Center at [insert GARD contact information].

References:

Nigro V, et al. Partial lipodystrophy and insulin resistance. New England Journal of Medicine. 2004; 350(): 1220-1234. [PubMed]
Vatier C, et al. Diagnosis and management of lipodystrophy: a step-by-step approach. Best Practice & Research Clinical Endocrinology & Metabolism. 2018; 32(2): 181-195. [PubMed]
“Familial partial lipodystrophy.” Genetics Home Reference. Accessed March 30, 2022. [GHR]
Additional articles and resources can be found on the GARD website, OMIM catalog, and ClinicalTrials.gov.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information and assistance to individuals and families affected by familial partial lipodystrophy. These resources can provide valuable support, education, and advocacy for patients and their loved ones, helping them navigate the complexities of this rare genetic condition.

1. Information and Education:

PubMed: A scientific database that provides access to a vast collection of medical literature and research articles related to familial partial lipodystrophy and its associated abnormalities.
OMIM: An online catalog of human genes and genetic disorders that provides detailed information about the genetics, inheritance, and clinical features of familial partial lipodystrophy.

2. Patient Support Groups:

Lipodystrophy United: A patient support organization that offers resources, community forums, and advocacy for individuals and families affected by lipodystrophy disorders, including familial partial lipodystrophy.

3. Genetic Testing and Counseling:

Genetic Testing Information: Learn about the different types of genetic testing available, including testing for the genes associated with familial partial lipodystrophy, to determine the genetic cause of the condition.
Genetic Counseling: Find a genetic counselor who can provide guidance and support throughout the testing process, help interpret the results, and discuss the inheritance pattern and risks associated with familial partial lipodystrophy.

4. Research and Clinical Trials:

ClinicalTrials.gov: Access information about ongoing research studies and clinical trials investigating familial partial lipodystrophy and potential treatments for the condition.
PubMed: Stay up to date with the latest research articles and studies published on familial partial lipodystrophy, providing insights into its causes, genetic abnormalities, and potential treatment strategies.

5. Additional Resources:

CenterWatch: A comprehensive database with information on ongoing clinical trials and research studies related to familial partial lipodystrophy.
Rare Diseases Resources: An extensive list of resources for rare diseases, including familial partial lipodystrophy, offering support, information, and advocacy.

By utilizing these patient support and advocacy resources, individuals and families affected by familial partial lipodystrophy can find valuable information, support, and opportunities to participate in research and clinical trials, ultimately contributing to advancements in understanding and treating this rare genetic condition.

Research Studies from ClinicalTrialsgov

Research studies on familial partial lipodystrophy, a rare genetic disorder, have been conducted by various scientific organizations and advocacy groups. ClinicalTrialsgov, a catalog of research studies, provides detailed information about these studies and their findings. This information can help both healthcare professionals and patients learn more about the condition, its causes, associated abnormalities, and potential treatment options.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information and resources for research, support, and advocacy for various genetic diseases, including Familial Partial Lipodystrophy.

Familial Partial Lipodystrophy is a rare genetic condition that affects the body’s ability to store fats. It is caused by mutations in certain genes, mainly PPARG and LMNA. This condition is inherited in an autosomal dominant pattern, which means that a person needs to inherit only one copy of the abnormal gene to have the disorder.

Patients with Familial Partial Lipodystrophy typically experience abnormal fat distribution, particularly around the limbs, trunk, and face. They often have metabolic problems, such as insulin resistance and high triglyceride levels, which can lead to diabetes and liver abnormalities. Women with this condition may develop acanthosis nigricans, a skin condition characterized by dark, velvety patches.

The OMIM catalog provides a detailed description of the genetic causes, clinical features, inheritance patterns, and frequency of Familial Partial Lipodystrophy. It also includes information about related genes, associated disorders, and available resources for further learning and support.

Researchers and healthcare professionals can find references to scientific articles, clinical trials, and other studies related to Familial Partial Lipodystrophy on OMIM. The catalog also serves as a central hub for genetic testing centers, advocacy groups, and patient support organizations specializing in this condition.

For more information about Familial Partial Lipodystrophy and other genetic diseases, interested individuals can visit OMIM website at https://omim.org.

Scientific Articles on PubMed

Familial partial lipodystrophy, also known as Dunnigan-type lipodystrophy, is a rare genetic condition characterized by abnormal fat distribution in various parts of the body. It is caused by mutations in different genes, including LMNA, PPARG, AKT2, and CIDEC. This condition is inherited in an autosomal dominant manner. Patients with familial partial lipodystrophy typically have a loss of fat in the arms, legs, and gluteal region, while fat accumulates in other parts of the body, such as the face and neck.

Clinical features of familial partial lipodystrophy include insulin resistance, diabetes, hypertriglyceridemia, and acanthosis nigricans. It is also associated with additional metabolic abnormalities, such as liver steatosis and cardiovascular diseases. Patients with this condition have an increased risk of developing complications, including metabolic syndrome, nonalcoholic fatty liver disease, and early cardiovascular diseases.

Scientific articles on PubMed provide valuable information about the research studies, clinical trials, and genetic studies conducted on familial partial lipodystrophy. These articles help in understanding the causes, inheritance pattern, and associated abnormalities of this condition. They also provide information about the management and treatment options available for patients with familial partial lipodystrophy.

Research studies have identified several genes associated with familial partial lipodystrophy and have provided insights into the mechanisms underlying the abnormal fat distribution in this condition. Genetic testing can be done to confirm the diagnosis of familial partial lipodystrophy and identify the specific gene mutation responsible for the condition.

Advocacy and support groups, such as the Foundation for Inherited Metabolic Disorders and the Global Genes RARE Project, provide resources and support for patients and families affected by familial partial lipodystrophy. These organizations help raise awareness about the condition, fund research studies, and provide support services for patients and their families.

OMIM, the Online Mendelian Inheritance in Man database, provides detailed information about the genes associated with familial partial lipodystrophy and their clinical features. This database is a valuable resource for researchers, clinicians, and patients seeking information about this rare genetic condition.

References:

Frick E, et al. Familial partial lipodystrophy: an overview. Orphanet J Rare Dis. 2012; 7: 36.
Lim JI, et al. Genetics of Lipodystrophy. Endocrinol Metab Clin North Am. 2019; 48(3): 601-616.
Simha V, Garg A. Inherited lipodystrophies and hypertriglyceridemia. Curr Opin Lipidol. 2009; 20(4): 300-308.

References

Vatier C, Vigouroux C, Béréziat V. Familial partial lipodystrophy caused by an LMF1 nonsense mutation. Diabetes Metab. 2016 May;42(2):144-8. doi: 10.1016/j.diabet.2016.01.010. Epub 2016 Feb 12. PubMed PMID: 26876669.
Araújo-Vilar D. Understanding lipodystrophy: a guide for the perplexed. J Inherit Metab Dis. 2015 Mar;38(2):363-72. doi: 10.1007/s10545-014-9782-6. Epub 2014 Aug 19. PubMed PMID: 25138937.
Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004 Jul 15;351(3):1220-34. doi: 10.1056/NEJMra041136. PubMed PMID: 15254286.
National Organization for Rare Disorders (NORD). Familial partial lipodystrophy. Accessed November 1, 2021. Available from: https://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/.
ClinicalTrials.gov. Additional resources for Familial Partial Lipodystrophy. Accessed November 1, 2021. Available from: https://clinicaltrialsgov/ct2/results?cond=Familial+Partial+Lipodystrophy.
OMIM (Online Mendelian Inheritance in Man). Familial partial lipodystrophy. Accessed November 1, 2021. Available from: https://omimorg/entry/604367.
American Diabetes Association. What is familial partial lipodystrophy? Accessed November 1, 2021. Available from: http://worldonline.medtronicdiabetes.com/renal/familial-partial-lipodystrophy?WTmcm_srch=renal&WTmcm_med=GG+SearchLipodystrophy

Frequency

Causes

Learn more about the gene associated with Familial partial lipodystrophy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

TFAP2B gene

GPR143 gene

Distal 18q deletion syndrome

Frequency

Causes

Learn more about the gene associated with Familial partial lipodystrophy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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