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Wolman Disease
Tuesday, 12 July 2005
Tuesday, 12 July 2005
Lysosomal Acid Lipase Deficiency


Wolman Disease is a rare condition that affects the body's ability to break down fats and cholesterols. This leads to the improper storage of these substances within the cells of the body, mainly in the small intestine, liver, spleen, adrenal glands, lymph nodes and bone marrow which causes these organs to function poorly. There are two forms of the disease: Wolman Disease, which is more severe and affects newborns; and Cholesterol Ester Storage Disease, which can be more benign and may present later in life.


Wolman Disease occurs rarely and sporadically in the general population. Only about 100 cases have ever been described. It is more common among children whose parents are related to each other.

Signs and Symptoms

In the infantile form (Wolman Disease), there are a number of signs and symptoms including:

  • poor weight gain
  • malaise or lethargy
  • vomiting
  • diarrhea
  • enlarged liver and spleen (hepatosplenomegaly)
  • developmental delay
  • anemia
  • poor absorption of food from intestine Patients with the less severe form of the disease (cholesterol ester storage disease) may have fewer of these signs and symptoms. They may only have enlargement of the liver and spleen or diarrhea. The longer life spans of these patients predispose them to more chronic conditions such as atherosclerosis and high blood pressure in the lungs (pulmonary hypertension).

Possible Causes

The disease is caused by mutations in an enzyme called LAL or Lysosomal Acid Lipase/Cholesterol Ester Hydrolase. If this enzyme does not function properly, fats build up in the cells of the body, leading to intestinal, liver, spleen, lymph node, and adrenal gland damage. Wolman Disease is a genetic disorder, with the gene for the LAL enzyme located on chromosome 10. It is inherited in an autosomal recessive fashion.


Biopsies of affected organs will show large amounts of lipids and cholesterol crystals in the cells, suggesting the disease. Diagnosis can be made by testing for the presence or absence of the LAL enzyme in skin scrapings or in the blood. Wolman Disease can also be diagnosed prenatally. Decreased or absent levels of the enzyme confirms the diagnosis of Wolman Disease.


There is no cure currently for Wolman Disease. Medications may be given to replace the hormones produced by the adrenal glands if needed. Nutrition may be given intravenously. Other experimental treatments include drugs to lower cholesterol such as lovastatin and a diet free of the types of fat and cholesterol that can build up in the bodies of affected patients. Bone marrow transplantation may play a role in treatment. Research on giving a manufactured form of the LAL enzyme to treat the disease is in very early stages.


The prognosis depends on how severely the mutation affects the enzyme. In cases where the enzyme fails to work altogether, the disease has historically led to death from nutritional or bone marrow failure before one year of life. In cases with partial function, the disease may be mild and cause only enlargement of the liver and spleen. However, this enlargement can lead to liver failure in some cases.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Cincinnati STAR Center for Lysosomal Diseases, Cincinnati Children's Hospital Medical Center
A very readable overview of Wolman Disease and a center where research is being done on treatments

Joseph F. Smith Medical Library
Wolman Disease is a fat storage disorder, also known as a lipidosis. This site gives an overview of the lipidoses.

Wolman Disease, Cedars-Sinai Medical Center
A brief synopsis of the disease.

Google Search for Wolman Disease

References and Sources

Basu D, Ferns S, Prasad MA, Nalini P (2002). Failure to thrive in a 3 month old boy. Postgrad Med J. 78(923):567-70. Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C (2004). Wolman disease and cholesterol ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. Pathol Res Pract. 200(3):231-40. McKusick, VA and Tiller, GE (2001). Wolman Disease. Online Mendelian Inheritance in Man. Accessed May 2, 2005. Wolman Disease. Accessed May 2, 2005.