Sitosterolemia

Sitosterolemia is a rare, autosomal recessive disorder that is characterized by the accumulation of plant sterols in the body. It is caused by mutations in either the ABCG5 or ABCG8 genes, which encode for the ATP-binding cassette (ABC) transporters that are responsible for the efflux of plant sterols from the body.

Symptoms

The symptoms of sitosterolemia can vary greatly among affected individuals. Some may be asymptomatic, while others may present with xanthomas, arthralgia, and premature atherosclerosis. Hematologic abnormalities such as macrothrombocytopenia, stomatocytosis, and hemolytic anemia can also occur.

Diagnosis

The diagnosis of sitosterolemia is based on the clinical findings, the presence of elevated plant sterol levels in the plasma, and the identification of a pathogenic variant in either the ABCG5 or ABCG8 gene.

Treatment

The treatment of sitosterolemia involves dietary modifications to reduce the intake of plant sterols, the use of bile acid sequestrants to reduce the absorption of plant sterols, and the use of ezetimibe to inhibit the intestinal absorption of dietary cholesterol and plant sterols.

Prognosis

The prognosis for individuals with sitosterolemia is generally good with early diagnosis and treatment. However, if left untreated, the disease can lead to premature atherosclerosis and other complications.

See also

• Hypercholesterolemia
• Xanthoma
• Atherosclerosis
• ABCG5
• ABCG8

References

Sitosterolemia Resources
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