Definition:
Wolman Disease, also known as acid lipase deficiency, is a severe lipid storage disease that is usually fatal by age one.  Wolman Disease involves the accumulation of both triglycerides and cholesteryl ester, that results from an inherited deficiency of lysosomal acid lipase, the enzyme used to break down triglycerides and cholesteryl esters in lysosomes. Because of the complete absence of lysosomal acid lipase activity, triglycerides and cholesteryl esters progressively accumulate in the affected tissues.

Males and females are affected by this disorder.  Infants born with this genetic disease are normal and active at birth but quickly develop deteriorating symptoms. 

Symptoms:
Infants develop an enlarged liver and spleen, also known as hepatosplenomegaly. A distended abdomen and gastrointestinal problems including steatorrhea (excessive amounts of fats in the stools), jaundice, anemia, vomiting, and adrenal-calcification are also symptoms of Wolman Disease.

Inheritance Patterns:
Wolman’s Disease is an autosomal recessive disorder.

Diagnosis and Testing:
Diagnosis can be difficult because there are no general laboratory tests that point specifically to this disorder.  Infants with hepatosplenomegaly and evidence of malnutrition should have a careful neurological examination and x-rays of the abdomen to check for calcium deposits in the adrenal glands. If Wolman Disease is suspected on the basis of these tests, acid lipase activity can be measured in the laboratory using white blood cells or skin cells. An absence of acid lipase activity confirms the diagnosis.

Carrier status:
Wolman Disease can be confirmed by measuring acid lipase activity in the white blood cells. Carriers will typically demonstrate 50% of normal enzyme activity.

Life Expectancy:
Life expectancy is one year of age or younger.

Treatment:
Currently there is no disease modifying treatment for Wolman Disease although one case in 2000 (Krivit W, Peters C, Dusenbery K, et al) was successfully treated with a bone marrow transplant. Patients with anemia may receive blood transfusions, and removal of the spleen may be performed to improve cardiopulmonary function. Reducing the amount of fat in the affected infant’s diet does not prevent the progression of this disorder.