Sitosterolemia, also known as phytosterolemia, is a rare genetic condition characterized by the accumulation of plant sterols in the body. This condition can lead to premature atherosclerosis and cardiovascular complications. Individuals with sitosterolemia often experience unusually high levels of plant sterols, leading to a range of health issues.

Sitosterolemia FAQ


What are the symptoms of sitosterolemia?

Sitosterolemia may cause symptoms such as tendon xanthomas, premature atherosclerosis, and high cholesterol levels.

Is sitosterolemia curable?

Sitosterolemia is a genetic condition and currently not curable. However, its symptoms can be managed with proper treatment and medication.

Are there medications available for sitosterolemia?

Yes, medications such as ezetimibe and statins are commonly prescribed to manage sitosterolemia and reduce plant sterol accumulation.

How is sitosterolemia diagnosed?

Diagnosis of sitosterolemia is typically confirmed through genetic testing and lipid profile analysis to detect high plant sterol levels.

Can sitosterolemia lead to cardiovascular complications?

Yes, sitosterolemia is associated with an increased risk of premature atherosclerosis and cardiovascular complications due to the accumulation of plant sterols.

Individuals with sitosterolemia are often advised to follow a low-phytosterol diet to help reduce the absorption of plant sterols from food.

Is sitosterolemia common?

Sitosterolemia is extremely rare, with only a few hundred cases reported worldwide.

Can sitosterolemia be inherited?

Yes, sitosterolemia is an inherited genetic condition, usually transmitted in an autosomal recessive pattern.

What are the long-term complications of sitosterolemia?

Long-term complications may include accelerated atherosclerosis, coronary artery disease, and increased risk of cardiovascular events.

Is sitosterolemia more common in certain populations?

Sitosterolemia has been reported in various populations worldwide, with no specific ethnic or regional predisposition.

Can sitosterolemia be managed with lifestyle changes alone?

Lifestyle changes such as dietary modification can help, but medical intervention with prescribed medications is often necessary to effectively manage sitosterolemia.

What are the potential complications of untreated sitosterolemia?

Untreated sitosterolemia can lead to progressive atherosclerosis, cardiovascular disease, and increased risk of heart-related events.

Is sitosterolemia preventable?

Sitosterolemia is not preventable as it is a genetic condition. However, early diagnosis and appropriate management can help prevent associated complications.

Are there support groups for people with sitosterolemia?

Several patient support organizations and online communities offer resources and support for individuals and families affected by sitosterolemia.

What is the life expectancy of individuals with sitosterolemia?

Life expectancy can vary, but with proper management and treatment, individuals with sitosterolemia can lead fulfilling lives.

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Information provided by Maryam Abdullahi-Mahdi. Reviewed by Mr. Matthew Liew