INFORMATION ON CHOLESTEROL ESTER STORAGE DISEASE

Severe infantile form of inherited lysosomal lipid storage disease due to lack of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.
Uncommon benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase; results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells); it is an allelic variant of Wolman disease.

CAUSES OF CHOLESTEROL ESTER STORAGE DISEASE

Wolman disease is caused by the shortage of the enzyme lysosomal acid lipase (LAL). LAL is responsible for breaking down certain types of fats, including cholesterol that occurs obviously in the body. When the body does not have enough LAL, these fats build up in the tissues of the body. The progressive build-up of the fats in the organs and tissues cause the symptoms linked with Wolman disease.
Wolman disease is also known as Lysosomal Acid Lipase deficiency and Acid Cholesteryl Ester Hydrolase deficiency, Wolman Type.

SYMPTOMS OF CHOLESTEROL ESTER STORAGE DISEASE

Infants with Wolman disease demonstrate symptoms within the first weeks or months of life. Parents may note frequent vomiting, watery diarrhea and an enlarged belly.
Infants with Wolman disease "fail to thrive," which means they do not gain weight. The intestines do not work properly and cannot take in calories and nutrients from food, which causes vomiting, diarrhea and severe malnourishment. The malnourishment is caused by an inability to absorb food from the intestine into the body. Infants will have an enlarged liver and spleen (hepatosplenomegaly), which causes the abdomen to appear swollen and distended. The enlarged liver and spleen and distended abdomen can cause an umbilical hernia (hernia of the belly button). Infants with Wolman disease have hypotonia (low muscle tone) and delayed growth of motor skills, which are most likely caused by malnutrition. Blood tests may show anemia. An X-ray or CT scan may show calcifications in the adrenal glands, which means that the adrenal glands may appear extraordinarily bright compared to other soft body organs and tissues. The adrenal glands may not make enough of the essential adrenal hormones and steroids. This deficiency of adrenal steroids can affect metabolism, blood pressure and the immune system. A bone marrow sample may show unusual, large, fat-filled cells called "foamy histocytes."
Infants with Wolman disease usually die during the first year of life. Death is often due to complications of malnourishment and shortage

TREATMENT OF CHOLESTEROL ESTER STORAGE DISEASE

There is no cure for Wolman disease at this time. If the adrenal gland is not making sufficient hormones and steroids, medications can be given to replace the missing compounds in the body. Nutrition can be specified intravenously.