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Other Rare Hereditary Disorders of Lipid Metabolism

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
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Topic Resources

Lipids are fats Fats Carbohydrates, proteins, and fats supply 90% of the dry weight of the diet and 100% of its energy. All three provide energy (measured in calories), but the amount of energy in 1 gram (1/28 ounce)... read more , which are an important source of energy for the body. The body’s store of fat is constantly broken down and reassembled to balance the body’s energy needs with the food available. Groups of specific enzymes help the body break down (metabolize) and process fats. Certain abnormalities in these enzymes can lead to the buildup of specific fatty substances that normally would have been broken down by the enzymes. Over time, accumulations of these substances can be harmful to many organs of the body. Lipidoses are disorders caused by the accumulation of lipids.

The accumulation of fatty substances can cause disorders such as

Treatment of lipid metabolism disorders varies depending on the type of fatty substances that accumulate in the blood and tissues.

Cerebrotendinous xanthomatosis

If started early, the drug chenodiol (chenodeoxycholic acid) helps prevent progression of the disease, but it cannot undo any damage already done. People may also given statins because these drugs lower lipid levels in the blood.

Sitosterolemia

Treatment of sitosterolemia consists of reducing the intake of foods that are rich in plant fats, such as vegetable oils, and taking cholestyramine resin. Doctors may also give the drug ezetimibe, which reduces the amount of cholesterol absorbed by the body.

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