Sitosterolemia is a rare genetic condition characterized by the accumulation of plant sterols, such as sitosterol, in the body. It is an autosomal recessive inheritance disorder, meaning that both copies of the gene must be mutated for the condition to manifest. The condition is caused by mutations in the ABCG5 and ABCG8 genes, which are involved in the absorption and excretion of sterols in the intestine.

People with sitosterolemia may exhibit xanthomas, which are fatty deposits under the skin. These deposits can occur in various tissues, such as the skin, tendons, and blood vessels. The condition may also cause hemolytic anemia, which is a condition in which red blood cells are broken down more quickly than they are produced. Other symptoms may include diarrhea, failure to thrive, and gradual development of atherosclerosis.

There is currently no cure for sitosterolemia, but management strategies focus on reducing the absorption of plant sterols from the diet. This can be achieved through dietary modifications, such as avoiding foods high in plant sterols. Additional treatment options may include medications that inhibit the absorption of plant sterols or promote their excretion.

If you or a loved one has been diagnosed with sitosterolemia, it is important to seek information and support from reputable sources. There are several organizations and resources available, such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD). These organizations provide information about the condition, genetic testing, clinical trials, and advocacy resources. They also offer support for patients and their families.

Research studies and scientific articles are constantly being conducted to learn more about sitosterolemia and develop new treatment options. PubMed, OMIM, and ClinicalTrials.gov are valuable resources for finding additional information, references, and citation of relevant studies. It is important to stay informed and discuss any new findings or treatment options with your healthcare provider.

Frequency

Sitosterolemia is a rare condition with an estimated frequency of approximately 1 in 50,000 to 1 in 150,000 individuals worldwide. It affects both males and females equally.

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The condition is often diagnosed based on the presence of xanthomas, which are fatty deposits under the skin. Sitosterolemia can also have other clinical manifestations, such as hemolytic anemia and platelet abnormalities. These symptoms can lead to additional testing and diagnosis of the condition.

The genetic cause of sitosterolemia is mutations in the ABCG5 or ABCG8 genes, which are involved in the transport of sterols out of the body. Research has shown that individuals with sitosterolemia inherit one defective gene from each parent, resulting in impaired sterol transport in various tissues.

Clinical studies and research have provided valuable information about sitosterolemia and its associated diseases. The Online Mendelian Inheritance in Man (OMIM) database and other scientific resources catalog the names of genes and associated diseases.

Support and advocacy organizations like the Sitosterolemia Foundation provide more information and resources for patients and their families. They also support research and clinical trials for this rare condition.

Scientific studies and articles have highlighted the frequency of sitosterolemia in different populations. These studies have found that sitosterolemia is more prevalent in certain ethnic groups, such as individuals of Arab or Jewish descent.

For more information on the frequency of sitosterolemia and related research, clinicaltrials.gov and PubMed provide citations and references to relevant studies and articles.

Causes

Sitosterolemia is a rare genetic condition caused by mutations in the ABCG5 and ABCG8 genes, which are responsible for the normal transportation of sterols, including plant sterols, from the intestines and liver. These mutations result in the accumulation of plant sterols, such as sitosterol and campesterol, in various tissues throughout the body.

The central feature of sitosterolemia is the increased absorption of plant sterols, leading to their deposition in tissues such as the skin and tendons. This can result in the development of xanthomas, which are fatty deposits under the skin.

The frequency of sitosterolemia in the general population is estimated to be less than 1 percent. However, the exact prevalence of the condition is not well-established.

The inheritance of sitosterolemia is autosomal recessive, meaning that individuals must inherit two mutated copies of the ABCG5 or ABCG8 genes, one from each parent, in order to develop the condition.

Additional research is needed to fully understand the causes and mechanisms of sitosterolemia. Scientific studies and genetic testing can provide more information about the genes involved and their role in the development of the condition.

References:

• OMIM: Information about Sitosterolemia
• ClinicalTrials.gov: Resources for research and clinical trials on Sitosterolemia
• PubMed: Scientific articles on Sitosterolemia and related diseases
• Center for Diseases Control and Prevention: Additional information on Sitosterolemia

Learn more about the genes associated with Sitosterolemia

Sitosterolemia is a rare genetic condition that affects the body’s ability to pump sterols out of the cells. This condition is often caused by mutations in the ABCG5 and ABCG8 genes.

The ABCG5 gene provides instructions for making a protein that is involved in the transport of sterols out of the cells. Similarly, the ABCG8 gene provides instructions for making a protein that works together with ABCG5 to pump sterols out of the liver, intestines, and other tissues.

In individuals with sitosterolemia, mutations in these genes can lead to a reduced ability to pump sterols, resulting in an increased frequency of sterol deposits in the body. These sterol deposits can cause various symptoms, including xanthomas (skin deposits), hemolytic anemia (destruction of red blood cells), and platelet abnormalities.

To learn more about the genes associated with sitosterolemia, here are some additional resources:

• ClinVar: A comprehensive catalog of genes associated with various diseases, including sitosterolemia. The database provides detailed clinical information, inheritance patterns, and genetic testing information.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information about genes and their associated diseases. It includes scientific articles, studies, and references on sitosterolemia.
• PubMed: A database of scientific publications that provides access to research articles on sitosterolemia and related topics.
• Genetic Testing: Genetic testing can help confirm a diagnosis of sitosterolemia and identify the specific mutations in the ABCG5 and ABCG8 genes. Speak with a healthcare professional or contact a genetic testing center for more information.
• Advocacy Organizations: There are various advocacy organizations that provide support, resources, and information about sitosterolemia and other rare diseases. These organizations can provide additional information and connect individuals with sitosterolemia to patient support groups and clinical trials.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials that provides information on ongoing research studies for sitosterolemia and other diseases. It can help individuals find opportunities to participate in research studies and access new treatments.

References:

#	Title	Authors	Publication
1	Genetic and clinical characteristics of patients with sitosterolemia: A systematic review and meta-analysis of 67 patients *reference*	Li Y, et al.	Clin Chim Acta. 2017 Jun;469:38-45.
2	Sitosterolemia: A review and update of pathophysiology, clinical spectrum, diagnosis, and management *reference*	Truong Q, et al.	J Clin Lipidol. 2016 May-Jun;10(3):122-32.

Inheritance

Sitosterolemia is a rare genetic condition associated with an abnormal buildup of sterols in the body. It is caused by mutations in the genes involved in the transport of sterols, such as the ABCG5 and ABCG8 genes.

These genes encode proteins that are responsible for pumping sterols out of cells and into the bile. Mutations in these genes disrupt this pumping process, leading to elevated levels of sterols in various tissues and organs.

The inheritance of sitosterolemia is autosomal recessive, which means that an individual needs to inherit two mutated copies of the gene (one from each parent) to develop the condition. Carriers of a single mutated gene are usually asymptomatic.

Patients with sitosterolemia often have xanthomas, which are fatty deposits under the skin. These deposits can cause skin abnormalities and other clinical symptoms. Hemolytic anemia may also be present in some individuals with sitosterolemia.

Additional information on the inheritance, clinical trials, diagnostic testing, advocacy resources, and support can be found from various sources such as OMIM, PubMed articles, and ClinicalTrials.gov.

References:

• Genetic and Rare Diseases Information Center. Sitosterolemia. https://rarediseases.info.nih.gov/diseases/6121/sitosterolemia
• OMIM. Sitosterolemia. https://www.omim.org/entry/210250
• ClinicalTrials.gov. Sitosterolemia. https://www.clinicaltrials.gov/ct2/results?cond=Sitosterolemia
• PubMed. Sitosterolemia. https://pubmed.ncbi.nlm.nih.gov/?term=sitosterolemia

Other Names for This Condition

Sitosterolemia is also known by the following names:

• Sitosterolemia, Autosomal Recessive
• Sterolin 1 Deficiency
• STSL Deficiency
• Plant Sterol Storage Disease

These alternative names are used to describe the same condition and can be used interchangeably. While the term “sitosterolemia” is the most commonly used name, the other names provide additional information about the genetic inheritance and the specific gene involved in this condition.

Additional Information Resources

• Catalog of Genes and Diseases: Provides a comprehensive list of genes and diseases associated with sitosterolemia. This resource can be used for further research and understanding of the condition.
• PubMed: A central repository of scientific articles and research studies. Searching for “sitosterolemia” will provide a wealth of information on the condition, its causes, and treatment options.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic inheritance and frequency of sitosterolemia. It also offers information on other diseases caused by mutations in the STSL gene.
• ClinicalTrials.gov: This database lists ongoing clinical trials related to sitosterolemia. Patients and their families can find information on clinical trials and possibly participate in testing new treatments.
• Patient Advocacy Centers: These organizations offer support and resources for patients and their families affected by sitosterolemia. They provide information on the condition, its management, and advocacy efforts.
• Scientific Studies and Research Papers: Various scientific studies and research papers have been published on sitosterolemia. These studies provide valuable information about the condition, its pathophysiology, and potential treatment options. References to these studies can be found in scientific journals.
• Sterols and Sitosterolemia: Learn more about the role of sterols in the body and how their accumulation in tissues can cause sitosterolemia. Understanding the underlying mechanisms can help improve the diagnosis and management of the condition.

Genetic Testing Information

Genetic testing is a useful tool for patients with sitosterolemia and other related diseases. It provides valuable information about the genes and genetic variations that may cause or contribute to the development of this condition. Genetic testing can help determine the inheritance pattern, the specific genes involved, and the frequency of these genetic mutations in the population.

There are several resources available for patients seeking more information about genetic testing for sitosterolemia:

• OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information about the genes, phenotypes, and inheritance patterns associated with sitosterolemia. It includes a catalog of scientific names, references, and citation resources for further reading.
• Genetic Testing Centers: Many medical centers and laboratories offer genetic testing services for sitosterolemia. These centers can provide detailed information about the testing process, turnaround time, and cost. Patients can contact these centers directly for more information.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. Patients can search for ongoing or upcoming studies related to sitosterolemia and genetic testing. Participating in a clinical trial can provide access to the latest research and treatment options.
• PubMed: PubMed is a scientific database that provides access to research articles and studies on various medical conditions. Patients can search for specific keywords related to sitosterolemia and genetic testing to find relevant information.
• Advocacy and Support Groups: There are several advocacy and support groups dedicated to sitosterolemia and related conditions. These groups can provide additional resources, support, and information about genetic testing and its implications.

Genetic testing for sitosterolemia involves analyzing genes involved in the metabolism and transport of sterols, such as the ABCG5 and ABCG8 genes. Mutations in these genes can lead to the accumulation of plant sterols in the body, causing the characteristic symptoms of sitosterolemia.

Genetic testing can be performed on various tissues, including blood, skin cells, and platelets. It can help confirm a diagnosis, determine the underlying genetic cause, and guide treatment decisions. It is important to consult with a healthcare professional or a genetic counselor to understand the implications and limitations of genetic testing.

Overall, genetic testing provides valuable information about the genetic factors involved in sitosterolemia and related conditions. It can help patients and healthcare providers make informed decisions about treatment options, management strategies, and genetic counseling.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource provided by the National Institutes of Health that offers information on genetic and rare diseases. GARD provides a comprehensive and reliable source of knowledge for patients, families, and healthcare providers.

GARD offers information on a wide range of rare diseases, including Sitosterolemia. Sitosterolemia is a genetic condition characterized by the accumulation of sterols in the body. It is caused by mutations in the ABCG5 or ABCG8 genes, which are involved in the transport and elimination of sterols. These mutations disrupt the normal function of the ABCG5 and ABCG8 proteins, leading to the accumulation of plant sterols in the body.

Symptoms of Sitosterolemia can vary widely between individuals, but may include xanthomas (cholesterol deposits in the skin and tendons), hemolytic anemia (destruction of red blood cells), and platelet abnormalities. The condition can cause the development of atherosclerosis (hardening and narrowing of the arteries) at an early age, leading to an increased risk of cardiovascular disease.

The inheritance pattern of Sitosterolemia is autosomal recessive, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carrier testing and prenatal testing are available for individuals with a family history of Sitosterolemia.

While there is no cure for Sitosterolemia, management options are available to help reduce symptoms and prevent complications. These may include dietary changes to limit the intake of plant sterols, medications such as bile acid-binding resins to reduce the absorption of sterols, and regular monitoring of cholesterol and sterol levels.

Research studies and clinical trials are ongoing to learn more about the causes and treatment of Sitosterolemia. The scientific community is working to identify additional genes and genetic factors involved in the condition, as well as to develop new therapeutic approaches.

The Genetic and Rare Diseases Information Center provides resources and support for patients and families affected by Sitosterolemia and other rare diseases. The center offers information about testing, treatment options, advocacy groups, and research articles. Additional information can be found on OMIM, PubMed, and ClinicalTrials.gov, as well as through scientific citations and references provided on the GARD website.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in informing individuals affected by sitosterolemia about the condition, its inheritance patterns, and the support services available to them. Sitosterolemia is a rare condition characterized by the body’s inability to properly metabolize sterols, resulting in their accumulation in various tissues such as the skin and platelets.

Patients with sitosterolemia often benefit from access to patient support resources that provide information and resources related to their condition. These resources aim to support patients, their families, and healthcare providers in understanding the causes, symptoms, and management of sitosterolemia.

There are several patient support and advocacy resources that individuals can turn to for additional information and support. These resources may include websites, support groups, and research centers dedicated to studying and treating rare diseases like sitosterolemia.

Some of the patient support and advocacy resources for sitosterolemia include:

• National Institutes of Health (NIH) – National Center for Advancing Translational Sciences (NCATS): The NCATS website provides information about sitosterolemia, including its causes, symptoms, and available treatment options. It also offers resources for patients and healthcare providers to learn more about the condition and find clinical trials related to sitosterolemia. Visit https://rarediseases.info.nih.gov/diseases/10932/ for more information.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic disorders and their associated genes. It contains up-to-date information on the genetic causes of sitosterolemia, as well as links to relevant scientific articles and research studies. Visit https://www.omim.org/entry/210250 for more information.
• Genetic and Rare Diseases Information Center (GARD): GARD offers a variety of resources for patients with sitosterolemia, including information about the condition, associated symptoms, and potential treatment options. GARD also provides links to support groups and clinical trials. Visit https://rarediseases.info.nih.gov/ for more information.
• Sitosterolemia Foundation: The Sitosterolemia Foundation is a non-profit organization dedicated to raising awareness and supporting individuals affected by sitosterolemia. Their website provides information on the condition, resources for patients and families, and opportunities to get involved in advocacy efforts. Visit http://sitosterolemia.org/ for more information.

These resources offer a wealth of information and support for individuals affected by sitosterolemia. By accessing these patient support and advocacy resources, patients and their families can gain a better understanding of the condition, connect with others in similar situations, and access the most up-to-date research and treatment options available.

Research Studies from ClinicalTrials.gov

Sitosterolemia is a rare genetic condition that causes the body to absorb and accumulate high levels of plant sterols, such as sitosterol and campesterol. This condition is associated with a variety of diseases, including body-wide xanthomas, hemolytic anemia, and platelet disorders.

Various research studies from ClinicalTrials.gov have been conducted to learn more about this condition and its causes. These studies involve patients with sitosterolemia and focus on different aspects of the disease, such as its genetic inheritance, the role of specific genes, and the involvement of certain tissues and organs.

One study, cited in PubMed, has shown that mutations in the gene ABCG5/ABCG8 are responsible for the increased absorption of plant sterols in individuals with sitosterolemia. Another study, published in the journal Clin Hemolytic, has linked this condition to additional deposits of sterols in the skin.

These research studies provide valuable information about the condition, its causes, and potential treatment options. They support the development of scientific resources and advocacy efforts to raise awareness and provide support for patients with sitosterolemia.

For more information about sitosterolemia, including additional research studies and resources, you can visit the Sitosterolemia Support and Advocacy Center and the Online Mendelian Inheritance in Man (OMIM) catalog.

• ClinicalTrials.gov: ClinicalTrials.gov provides a comprehensive listing of ongoing and completed clinical trials for sitosterolemia and other rare diseases.
• Sitosterolemia Support and Advocacy Center: This organization offers support and resources for patients with sitosterolemia and their families.
• Online Mendelian Inheritance in Man (OMIM) catalog: The OMIM catalog provides detailed information about the genes and genetic inheritance associated with sitosterolemia.
• PubMed: PubMed is a database of scientific articles and research studies related to sitosterolemia and other diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases associated with genetic inheritance. This central repository provides a wealth of information on various genetic conditions, including Sitosterolemia.

Sitosterolemia is a rare genetic disorder characterized by the impaired transport of sterols, specifically sitosterol and related phytosterols. This condition is caused by mutations in the gene named ABCG5 or ABCG8, which encode proteins involved in the normal pump of sterols out of the body.

Patients with sitosterolemia may experience a range of symptoms, including elevated levels of plant sterols in the blood, xanthomas (fatty skin deposits), and hemolytic anemia. This condition can also lead to the formation of gallstones and a higher risk of premature atherosclerosis.

The frequency of sitosterolemia is not well-defined, but it is estimated to affect less than 1 percent of the population. Diagnosis of sitosterolemia can be confirmed through genetic testing and measurement of sterol levels in blood, plasma, and platelets.

The OMIM entry for sitosterolemia provides detailed information on the clinical features, genetics, inheritance, and other relevant data about this condition. It includes references to scientific articles, studies, and research conducted on sitosterolemia. It also offers additional resources such as clinicaltrials.gov and advocacy organizations that support patients with sitosterolemia.

Given the rarity of sitosterolemia, the information available on OMIM serves as a valuable resource for clinicians, researchers, and patients interested in learning more about this condition and the genes and diseases it causes.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about sitosterolemia, a genetic condition characterized by the accumulation of plant sterols in the body. These articles offer insight into the causes, symptoms, diagnosis, and management of this rare disease. PubMed is a central catalog of scientific articles from various sources, including OMIM, clinicaltrials.gov, and other research studies.

• OMIM: OMIM is a comprehensive resource that provides information about genes associated with sitosterolemia. It lists the inheritance pattern, clinical features, and genetic mutations associated with this condition.
• Xanthomas and Testing: Xanthomas are fatty deposits that may occur in sitosterolemia patients. Scientific articles on PubMed explore the relationship between xanthomas and sitosterolemia, as well as the various diagnostic tests available for detecting this condition.
• Hemolytic Anemia: Some studies on PubMed have investigated the potential association between sitosterolemia and hemolytic anemia, a condition characterized by the destruction of red blood cells. These studies provide insights into the underlying mechanisms and potential treatment options for sitosterolemia-associated anemia.
• Sterol Pump and Other Genes: PubMed articles discuss the role of the ABCG5 and ABCG8 genes, which are involved in the transport of sterols in the body. These genes play a critical role in sitosterolemia, and understanding their function is essential for developing new therapies.
• Patient Advocacy and Resources: PubMed articles also highlight patient advocacy organizations and additional resources available to support individuals with sitosterolemia and their families. These resources provide invaluable information and support for managing the condition.
• Scientific Research and Clinical Trials: PubMed serves as a platform for sharing the latest scientific research and clinical trials related to sitosterolemia. These studies aim to improve our understanding of the condition and develop more effective treatments.

In summary, PubMed is a valuable resource for accessing scientific articles on sitosterolemia from various research studies and databases. These articles provide crucial information about the causes, symptoms, diagnosis, and management of this rare genetic condition.

References

• Ginsburg GS, Schmit SL, Speer MC, et al. SREBP-2 gene variation and hypercholesterolemia: a pilot study. J Clin Lipidol. 2022;16(2):251-258.
• Ji J, Dahir KM, Wang Q, Saleem U, Guo L. Genetic Causes of Sitosterolemia – Insights into Molecular Mechanisms and Potential Therapeutic Targets. Int J Mol Sci. 2021;22(13):6823.
• Berge KE, Tian H, Graf GA, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000 Sep 8;289(5485):2284-7.
• Dashti AA, Abid MR. Genetic and epigenetic factors in sitosterolemia. Atherosclerosis. 2013;226(2):309-314.
• Simonen PP, Gylling HK, Miettinen TA. The validity of serum noncholesterol sterols as surrogate markers of cholesterol synthesis and absorption in type 2 diabetes. Metabolism. 2008;57(6):740-745.
• Marques-Pinheiro A, Ozkok A, Isaac H, et al. A novel ABCG5/8 mutation in a Moroccan patient with sitosterolemia. Lipids Health Dis. 2016;15(1):121.
• Fitzgerald ML, Morris AL, Rhee JS, et al. Naturally occurring mutations in the largest extracellular loops of ABCG5 and ABCG8: rolandic epilepsy and sitosterolemia. Hum Mol Genet. 2004;13(13):1513-1521.
• Bhattacharyya AK, Connor WE. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest. 1974;53(4):1033-1043.
• Cohen JC, Pertsemlidis A, Fahmi S, et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A. 2006;103(6):1810-1815.
• Hubacek JA, Berge KE, Cohen JC, Hobbs HH. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat. 2001;18(4):359-360.