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Cholesteryl Ester Storage Disease and Wolman Disease

(Wolman's Disease)

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
Click here for the Professional Version

Cholesteryl ester storage disease and Wolman disease are hereditary metabolic disorders called lipid storage diseases (lipidoses) that are caused by a buildup of types of cholesterol and triglycerides in the tissues. These diseases cause high levels of fats in the blood and an enlarged liver. Hereditary diseases occur when parents pass the defective genes Genes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are structures within cells... read more Genes that cause these diseases on to their children.

Lipidoses occur when the body lacks one of the enzymes that help the body break down (metabolize) and process 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 (lipids). This 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.

In cholesteryl ester storage disease and Wolman disease, cholesterol and triglycerides, which are important fats in the blood, accumulate in tissues. The enzyme needed to break down cholesterol and triglycerides, called lysosomal acid lipase, does not work correctly.

Wolman disease

Wolman disease is the more severe disease. This disease occurs in the first few weeks of life. Infants feed poorly, vomit, and have an enlarged spleen and liver. Calcium deposits in the adrenal glands cause them to harden. Bowel movements contain excess fat, which results in oily, unusually foul-smelling, bulky stools (steatorrhea). Infants with Wolman disease usually die by 6 months of age if untreated.

Cholesteryl ester storage disease

Cholesteryl ester storage disease is less severe than Wolman disease and may not occur until later in life, even adulthood, at which time people may have an enlarged liver and spleen. People may develop premature hardening of the arteries (atherosclerosis Atherosclerosis Atherosclerosis is a condition in which patchy deposits of fatty material (atheromas or atherosclerotic plaques) develop in the walls of medium-sized and large arteries, leading to reduced or... read more Atherosclerosis ), which is often severe.

Diagnosis

  • Prenatal screening tests if suspected

  • Liver biopsy

After birth, doctors measure levels of lysosomal acid lipase in a biopsy sample of the liver or other tissues (removal of a tissue specimen for examination).

Treatment

  • Enzyme replacement therapy

Enzyme replacement therapy with sebelipase alfa can be used to treat both disorders.

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