Sitosterolemia

Common Name(s)

Sitosterolemia

Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by {2:Berge et al., 2000}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sitosterolemia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sitosterolemia" returned 35 free, full-text research articles on human participants. First 3 results:

Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.
 

Author(s): Christian Renner, William E Connor, Robert D Steiner

Journal: Clin Med Res. 2016 Jun;14(2):103-8.

 

A young girl, age 8.5 years, presented with profound hypercholesterolemia and early xanthomatosis, suggesting homozygous familial (or type II) hypercholesterolemia. The patient's low density lipoprotein (LDL) receptor function and parental lipoprotein profiles were determined to be ...

Last Updated: 12 Jul 2016

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A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.
 

Author(s): Hayato Tada, Masa-Aki Kawashiri, Hirofumi Okada, Saori Endo, Yuka Toyoshima, Tetsuo Konno, Atsushi Nohara, Akihiro Inazu, Akira Takao, Hiroshi Mabuchi, Masakazu Yamagishi, Kenshi Hayashi

Journal: J. Atheroscler. Thromb.. 2016 Jul;23(7):884-90.

 

Whole exome sequencing (WES) technologies have accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. We encountered a 13-year-old Japanese female initially diagnosed with familial hypercholesterolemia on the basis of clinical manifestations ...

Last Updated: 4 Jul 2016

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Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia.
 

Author(s): Rgia A Othman, Semone B Myrie, David Mymin, Louise S Merkens, Jean-Baptiste Roullet, Robert D Steiner, Peter J H Jones

Journal: J. Pediatr.. 2015 Jan;166(1):125-31.

 

To assess if ezetimibe (EZE), a sterol-absorption inhibitor, improves platelet (PLT) count and size relative to its effect on plasma plant sterol (PS) in patients with sitosterolemia (STSL).

Last Updated: 22 Dec 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sitosterolemia" returned 4 free, full-text review articles on human participants. First 3 results:

Plant Sterols, Stanols, and Sitosterolemia.
 

Author(s): Bridget O Ajagbe, Rgia A Othman, Semone B Myrie

Journal: J AOAC Int. ;98(3):716-23.

 

Phytosterolemia (sitosterolemia) is a rare autosomal recessive sterol storage disease caused by mutations in either of the adenosine triphosphate (ATP) binding cassette transporter genes; (ABC) G5 or ABCG8, leading to impaired elimination of plant sterols and stanols, with their increased ...

Last Updated: 19 Jun 2015

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Current therapy for patients with sitosterolemia--effect of ezetimibe on plant sterol metabolism.
 

Author(s): Kazumi Tsubakio-Yamamoto, Makoto Nishida, Yumiko Nakagawa-Toyama, Daisaku Masuda, Tohru Ohama, Shizuya Yamashita

Journal: J. Atheroscler. Thromb.. 2010 Sep;17(9):891-900.

 

Sitosterolemia is a rare, autosomal recessive inherited sterol storage disease associated with high tissue and serum plant sterol concentrations, caused by mutations in the adenosine triphosphate-bind-ing cassette (ABC) transporter ABCG5 or ABCG8 genes. Markedly increased serum concentration ...

Last Updated: 6 Oct 2010

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Genetic basis of sitosterolemia.
 

Author(s): M H Lee, K Lu, S B Patel

Journal: Curr. Opin. Lipidol.. 2001 Apr;12(2):141-9.

 

The molecular mechanisms regulating the amount of dietary cholesterol retained by the body, as well as the body's ability to exclude other dietary sterols selectively, are poorly understood. An average Western diet will contain approximately 250-500 mg of dietary cholesterol and approximately ...

Last Updated: 26 Mar 2001

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Effects of Fish Oil and Colesevelam
 

Status: Not yet recruiting

Condition Summary: Sitosterolemia

 

Last Updated: 30 Aug 2016

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