Wolman disease


Wolman Disease

Description:

Also called as cholesterol ester storage disease.

Abbreviation: CESD.

A lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal acid lipase gene (LIPA) on chromosome 10q.

Alternative Names: Cholesteryl ester storage disease, Wolman xanthomatosis, and Wolman disease.

ICD-9-CM: 272.7.

Wolman disease is a form of rare and inherited condition that involves the breakdown and use of cholesterol and fats in a person's body or, `lipid metabolism.' People who are affected by the disease experience harmful amounts of lipids which accumulate in their liver, spleen, small intestine, bone marrow, lymph nodes and adrenal glands. They also experience calcium deposits in their adrenal glands. Wolman disease occurs in approximately one in three hundred and fifty thousand newborns..

Symptoms:

Signs and symptoms of the disease, which may include: Diarrhea, vomiting, low muscle tone, development delay, low amount of iron in blood, enlarged liver and spleen.

Causes and Risk Factors:

Wolman disease

Wolman disease is caused by mutations in the LIPA gene, which encodes for an enzyme called, 'lysomal acid lipase,' and is found in the lysosomes and breaks down fats such as cholesteryl esters and triglycerides so a person's body may use them. Lysosomes are intracellular structures that digest and recycle substances. Medical science has identified a variety of mutations that lead to defective enzyme activity.

Shortage of lysomal acid lipase leads to an accumulation of cholesteryl esters, triglycerides, as well as other fats within the person's cells. These accumulations, as well as the malnutrition that is caused by the affected persons body's inability to appropriately use lipids, result in the signs and symptoms of Wolman disease. LIPA mutations may also cause cholesteryl ester storage disease, something that is diagnosed later in life and is commonly much less harmful than Wolman disease.

Inheritance pattern:

Wolman disease is an autosomal recessive disorder affecting both males and females. In individuals with this disorder, both copies of the gene that codes for lysosomal acid lipase are abnormal. Both parents of an affected child have one abnormal copy of the gene, but usually do not show symptoms because they also have one normal copy. The normal copy provides approximately 50% of the usual enzyme activity, a level adequate for the body's needs. Individuals with one abnormal copy of the gene and 50% enzyme activity are said to be carriers or heterozygotes. Because both parents of a child with Wolman disease are carriers, they have a 25% risk in each subsequent pregnancy of having another child who is affected with the same disorder.

Diagnosis:

Diagnosis can be difficult because there are no general laboratory tests that point specifically to Wolman disease. 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.

A definitive diagnosis of Wolman disease is made through a demonstration of deficient lysomal acid lipase activity in the person's white blood cells or, 'fibroblasts,' which are cells that manufacture the supporting matrix of the cell. An amniocentesis may be performed to achieve a prenatal diagnosis of the disease as well. X-ray imaging can present a characteristic pattern of calcification, outlining the outline of the person's cortex of both glands, in enlarged but regularly-shaped adrenal glands. CT and MRI images may show enlargement of the person's liver or spleen, as well as calcification of both of their adrenal glands, and enlarged lymph nodes.

Specific DNA tests that check for changes in the normal sequence of nucleotides in the acid lipase gene can usually detect the particular gene mutation in an affected individual or carrier. This type of test is only available in a few, very specialized DNA laboratories.

Treatment:

There is no specific treatment for Wolman disease. There have been attempts to treat the milder CESD with low-fat diets and cholesterol-lowering drugs, and there has been at least one report of a liver transplant in a patient with CESD. Another form of therapy involves blood transfusions to treat anemia. At this time, there are not specific forms of treatment that can prevent the buildup of lipids in a person's organs. Due to this, some infants with the disease eventually need surgical intervention to remove an enlarged spleen.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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