Sitosterolemia Resources


sitosterolemia_foundationSitosterolemia Foundation

General Info

Genetics Home Reference's listing for sitosterolemia, via the National Institute of Health (updated November 2016)

Sterol and Isoprenoid Research Consortium: contains a registry for patients to sign up for consideration for future studies. You can also find information on current or upcoming studies.

Video of Dr. James DeLine speaking about his findings on sitosterolemia in Amish communities in Ohio.

Video animation of how phytosterols normally function in the human body.

Sitosterolemia Findings on PubMed

"Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia" (January 20, 2006); brief description of phytosterols' effects on hematology.

"Fine mapping of a gene responsible for regulating dietary cholesterol absorption..." (August 2, 2006); description of how genetic mutations can arise and cause sitosterolemia (i.e. founder's effect).

"Phytosterols: to be or not to be toxic; that is the question" (December 2008)

"Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8" (February 2009); specifics on how phytosterols are absorbed and why medication ezetimibe works in blocking their absorption.

"A phytosterol patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis" (May 12, 2011)

"Dietary xenosterols lead to infertility and loss of abdominal adipose tissue in sterolin-deficient mice" (February 2013); possibility of infertility with sitosterolemia.

"Phytosterol Feeding Causes Toxicity in ABCG5/G8 Knockout Mice" (April 2013)

"Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia" (July 31, 2013); thoroughly detailed review of phytosterols' effects on hematology.

"Long-Term Follow-Up of a Patient with Sitosterolemia and Hemolytic Anemia with Excellent Response to Ezetimibe" (2013)

"Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia" (February 27, 2014); description of thrombocytopenia and anemia as a specific result of sitosterolemia, not other disorders like immune thrombocytopenia (ITP), which is often a misdiagnosis; article also suggests that symptoms of sitosterolemia indicate that it is not as rare as perceived.

"Plant Sterols, Stanols, and Sitosterolemia" (July 24, 2015); review, detailed description of absorption of phytosterols in sitosterolemia patients, helpful tables (including reported cases from 2004-2014).

"Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management" (March 31, 2016)