Wolman’s disease is a rare genetic disorder caused by a mutation in the LIPA gene, resulting in the inability to metabolize certain types of fat. Symptoms include an enlarged spleen, liver, and malnutrition. There is no cure, and most babies die during their first year of life. Treatments focus on managing symptoms such as anemia and malnutrition, with intravenous nutritional supplements and blood transfusions being common therapies. A bone marrow transplant has been successful in one case, but further research is needed.
Wolman’s disease is part of a family of diseases called lipid storage diseases. This type of disorder is caused by a genetically inherited defect in one or more enzymes involved in lipid metabolism. Most of these disorders are autosomal recessive, meaning both parents have one copy of the defective gene, and an affected child inherits the defective gene from each parent. Wolman’s disease is also called Wolman’s disease or Wolman syndrome and may also be known as acid lipase deficiency. Most lipid storage diseases are very rare in all populations; in the case of Wolman’s disease, the frequency is estimated at 1 in 350,000 births.
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 a vital role in breaking down lipids for use or storage. When the gene is faulty, the body cannot metabolize certain types of fat. As a result, triglycerides and cholesterol build up within the body and are deposited in the adrenal glands, spleen, liver, intestines and lymph nodes.
Lysosomal acid lipase deficiency causes symptoms related to the effects of fat deposits in the organs and the fact that the inability to metabolize fat results in severe malnutrition. Symptoms of Wolman’s disease can appear as early as a week after birth. Possible symptoms include an enlarged spleen, enlarged liver, jaundice, vomiting, diarrhea, anemia, little or no weight gain, and poor muscle tone.
Only a small number of lipid storage disorders are treatable. Wolman’s disease is not one of them and is considered a fatal disease of childhood, as most babies die during their first year of life. There is currently no cure and no treatment that can reverse the effects of the genetic mutation. Treatments for this disease focus on managing symptoms such as anemia and malnutrition.
One of the most common treatments for Wolman’s disease is the use of intravenous nutritional supplements that bypass the digestive system. Another common therapy is blood transfusions to treat anemia. However, there are no treatments that can prevent the accumulation of lipids in the organs; for this reason, some children with the disease eventually require surgery to remove an enlarged spleen. If the deposition of fat reduces the function of the adrenal gland, drugs may be given to replace the hormones that the glands normally secrete.
There is one recorded case of a Wolman’s disease treatment actually providing a long-term benefit to the person with the condition. In this case the treatment was a bone marrow transplant and resulted in the disease going into a state of remission in the person receiving the treatment. This single success means there is potential for bone marrow transplantation to become standard treatment for the disease, but so far the positive result has not been replicated in a second patient.
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