Wolman Disease: Causes, Symptoms, Treatments
Synopsis: Wolman disease is a form of a rare and inherited condition that involves the breakdown and use of cholesterol and fats in the body. Wolman disease occurs in approximately one in three hundred and fifty thousand newborns. The condition is also known by the names Acid Lipase Deficiency, Familial Xanthomatosis, Lipa Deficiency, LAL deficiency, Liposomal Adic Lipase Deficiency, and Lysomal Acid Lipase Deficiency. The symptoms of Wolman disease can appear as quickly as one week after the time a person is born. Potential symptoms include enlarged liver or spleen, vomiting, jaundice, anemia, diarrhea, little or no weight gain, poor muscle tone, developmental delays, and poor absorption of nutrients from food.
Wolman disease is a family of disorders called 'lipid storage diseases.' A genetically-inherited defect causes disorders in one or more enzymes involved in lipid metabolism.
The U.S. Social Security Administration (SSA) has included Wolman Disease as a Compassionate Allowance to expedite a disability claim.
Defining Wolman Disease
Wolman disease is a form of a rare and inherited condition that involves the breakdown and use of cholesterol and fats in a person's body or, 'lipid metabolism.' People affected by the disease experience harmful amounts of lipids that accumulate in their liver, spleen, small intestine, bone marrow, lymph nodes, and adrenal glands. They also experience calcium deposits in their adrenal glands. When an infant with Wolman disease is born, they are active and healthy. Soon after, they develop signs and symptoms of the disease, which may include:
- Poor weight gain
- Low muscle tone
- Developmental delay
- Enlarged liver and spleen
- Low amounts of iron in the blood
- Poor absorption of nutrients from food
- A yellow tint to the skin and the whites of the eyes
Children with Wolman disease develop severe malnutrition. Most do not live past early childhood. Wolman disease occurs in approximately one in three hundred and fifty thousand newborns. The disease is also known by the names Acid Lipase Deficiency, Familial Xanthomatosis, Lipa Deficiency, LAL deficiency, Liposomal Adic Lipase Deficiency, and Lysomal Acid Lipase Deficiency.
Wolman disease is a family of disorders called 'lipid storage diseases.' A genetically-inherited defect causes disorders in one or more enzymes involved in lipid metabolism. Most of these disorders are 'autosomal recessive,' meaning both parents have a copy of the gene responsible for the disease and that a child affected by the disease has received the defective gene from each of their parents. Most lipid storage diseases are sporadic in every population.
Causes of Wolman Disease
Wolman's disease is caused by a mutation in a gene called lysosomal acid, lipase A, or LIPA. This gene codes for a protein called lysosomal acid lipase. This protein is an enzyme that plays an instrumental role in breaking down lipids for use or storage. When the gene is defective, the body cannot metabolize certain fats. As a result, triglycerides and cholesterol build up within the body and are deposited in the adrenal glands, spleen, liver, intestines, and lymph nodes.
Wolman disease is caused by mutations in the LIPA gene, which encodes for an enzyme called 'lysosomal 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 lysosomal acid lipase leads to an accumulation of cholesteryl esters, triglycerides, and other fats within the person's cells. These accumulations, as well as the malnutrition caused by the affected person's body's inability to use lipids appropriately, result in the signs and symptoms of Wolman disease. LIPA mutations may also cause cholesteryl ester storage disease, diagnosed later in life and much less harmful than Wolman disease.
Symptoms of Wolman Disease
Lysosomal acid lipase deficiency causes symptoms related to the effects of fatty deposits in the person's organs and their inability to metabolize fats, causing severe malnutrition. The symptoms of Wolman disease can appear as quickly as one week after the time a person is born. Potential symptoms include enlarged liver or spleen, vomiting, jaundice, anemia, diarrhea, little or no weight gain, poor muscle tone, developmental delays, and poor absorption of nutrients from food. Babies with Wolman disease are both active and healthy at birth, yet they soon develop signs and symptoms of the disease.
Diagnosing Wolman Disease
A definitive diagnosis of Wolman disease is made through a demonstration of deficient lysosomal 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 also be performed to achieve a prenatal diagnosis of the disease. 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, calcification of both of their adrenal glands, and enlarged lymph nodes.
Treatment of Wolman Disease
A small number of lipid storage disorders are treatable; unfortunately, Wolman disease is not among them and is considered to be a fatal disease of infancy because the majority of children affected by it die during their first year of life. Medical science has not discovered a cure for Wolman disease, and no treatments can reverse the effects of the gene mutation involved. Treatment for the disease involves managing symptoms, such as malnutrition and anemia.
Intravenous nutritional supplements are one of the most common forms of treatment for Wolman disease; they bypass the person's digestive system. Another form of therapy involves blood transfusions to treat anemia. At this time, no specific treatment can prevent lipids buildup in a person's organs. Due to this, some infants with the disease eventually need surgical intervention to remove an enlarged spleen. Should fat deposits reduce their adrenal gland functioning, medications can be administered which may replace the hormones the person's glands would usually secrete.
There is one recorded instance of a person with Wolman disease receiving treatment that provided long-term benefits. The treatment this person received was a bone marrow transplant, which caused the disease to enter a remission state. There has yet to be another person who successfully received this treatment with Wolman disease. The success does, however, mean there is potential for bone marrow transplants to become a standard treatment for people with the disease.
Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.
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Cite This Page (APA): Thomas C. Weiss. (2010, February 22). Wolman Disease: Causes, Symptoms, Treatments. Disabled World. Retrieved February 26, 2024 from www.disabled-world.com/disability/types/wolman-disease.php
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