INFORMATION ON WOLMAN DISEASE

An inherited disorder of lipid metabolism caused by a deficiency of lysosomal acid lipase and resulting in the widespread accumulation of cholesterol esters and triglycerides in the internal organs. It results in accumulation of neutral lipids, particularly cholesterol esters, within cells. Lysosomal acid lipase is responsible for breaking down certain types of fats, including cholesterol, that occur naturally in the body. When the body does not have enough Lysosomal acid lipase, 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 associated with Wolman disease.

SYNONYMS OF WOLMAN DISEASE

Synonyms and related keywords:
1. Cholesteryl ester storage disease.
2. Niemann-Pick disease.
3. Acid cholesteryl ester hydrolase deficiency.
4. Cholesterol ester hydrolase deficiency.
5. Cholesterol ester storage disease.
6. Cholesteryl ester storage disease.
7. Acid lipase disease.

CAUSES OF WOLMAN DISEASE

Wolman disease is caused by the deficiency of the enzyme lysosomal acid lipase. Lysosomal acid lipase is responsible for breaking down certain types of fats, including cholesterol, that occur naturally in the body. When the body does not have enough Lysosomal acid lipase, 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 associated with Wolman disease. It is estimated that one in every 350,000 newborn babies has Wolman disease. This means that Wolman disease is quite rare.

SYMPTOMS OF WOLMAN DISEASE

Symptoms of Wolman disease are:
1. Forceful vomiting.
2. Watery diarrhea.
3. Fat in the stools.
4. Fever.
5. Yellow tint to the skin.
6. Jaundice.

DIAGNOSIS OF WOLMAN DISEASE

Diagnosis can be difficult because there are no general laboratory tests that point specifically to Wolman disease. Neurological examination and x rays of the abdomen to check for calcium deposits in the adrenal glands. Prenatal testing for Wolman disease during pregnancy is possible. Amniocentesis can be performed and cells from the amniocentesis sample can be grown in the laboratory and tested.

TREATMENT OF WOLMAN DISEASE

There is currently no cure or specific treatment for Wolman's disease. Death usually occurs by the age of six months. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with Wolman’s disease may benefit from a low cholesterol diet.