Sitosterolemia
Sitosterolemia
Sitosterolemia (pronounced si-to-ste-ro-le-mi-a) is a rare, inherited disorder of lipid metabolism characterized by the accumulation of plant sterols in the body.
Etymology
The term "Sitosterolemia" is derived from the Greek words "sitos" meaning food and "sterol" which refers to sterols or steroid alcohols. The suffix "-emia" is from the Greek "haima" meaning blood. Thus, Sitosterolemia literally means the presence of food sterols in the blood.
Definition
Sitosterolemia is a genetic disorder that affects the body's ability to properly process certain fats, leading to an accumulation of plant sterols in the blood and tissues. This condition is caused by mutations in the ABCG5 or ABCG8 genes.
Symptoms
Symptoms of Sitosterolemia can vary greatly among individuals. They may include xanthomas, which are yellowish fatty deposits under the skin; Arteriosclerosis, a hardening of the arteries; and Hemolytic anemia, a condition in which red blood cells are destroyed faster than they can be made.
Diagnosis
Diagnosis of Sitosterolemia is typically made through a combination of clinical evaluation, detailed patient history, and specialized laboratory testing. Genetic testing can confirm a diagnosis.
Treatment
Treatment for Sitosterolemia typically involves dietary modifications to limit the intake of foods high in plant sterols. Medications such as Ezetimibe may also be used to block the absorption of plant sterols.
Prognosis
With early diagnosis and appropriate treatment, individuals with Sitosterolemia can lead healthy lives. However, without treatment, the condition can lead to serious health problems such as premature heart disease.
See Also
External links
- Medical encyclopedia article on Sitosterolemia
- Wikipedia's article - Sitosterolemia
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