sitosterolemia
sitosterolemia Causes
Sitosterolemia can be inherited in a rare autosomal recessive pattern of inheritance.
sitosterolemia Definition
Sitosterolemia is a very rare inherited metabolic defect wherein unnecessary amounts of sterols are absorbed and not eliminated from the body, which results in accumulation in the blood causing damage in the tissues of the body. Oftentimes, sitosterolemia is misdiagnosed as high blood cholesterol, which is actually one of the effects of sitosterolemia in the body.
sitosterolemia Diagnosis
High level of plant sterols in the blood will confirm diagnosis of sitosterolemia through a special diagnostic test.
sitosterolemia Symptoms and Signs
The following are some of the symptoms that suggest the presence of Sitosterolemia: ? Skin lumps or bumps, which are called xanthomas, usually occurring in the Achilles tendons on the heels and the tendons of the hands. ? Increased plant sterol level in the blood ; level of blood cholesterol may be at the normal to high range ? Knees and heels are prone to arthritis ? Chest pain and shortness of breath may be experienced upon exertion because heart disease can be a result of sitosterolemia.
sitosterolemia Treatment
At the moment that sitosterolemia is diagnosed, treatment plan would include a diet low in plant sterols by eliminating all sources of vegetable fats, vegetable oils, margarine and even chocolate.
Drugs used for treatment of sitosterolemia
Zetia