What is Wolman's disease?

Wolman disease is one of the families of disorders called lipid storage disease. This type of disorder is caused by a genetically enlarged defect in one or more enzymes involved in lipid metabolism. Most of these disorders are autosomal recessive, which means that both parents have a copy of a defective gene and the affected child will inherit a defective gene from each parent. Wolman's disease is also called Wolman's disease or Wolman's syndrome and can also be known as the lack of acid lipase. Most lipid storage diseases are very rare in all populations; In the case of Wolman's disease, this frequency is estimated at 1 in 350,000 birth. This gene encodes a protein called lysosomal lipase acid. This protein is an enzyme that plays an instrumental role in breaking lipids for use or storage. When the gene is defective, the body cannot metabolize certain types of fat. As a result, triglycer and cholesterol accumulate in the body and are stored in the adrenal glands, spleen, liver, intestines and lymph -UZlines.

The lack of lysosomal lipase acid causes symptoms related to the effects of fat deposits in the organs and the fact that the inability to metabolize fats causes serious malnutrition. The symptoms of Wolman's disease may occur as early as the week after birth. Possible symptoms include enlarged spleen, enlarged liver, jaundice, vomiting, diarrhea, anemia, small or no weight gain and poor muscle tone.

Only a small number of lipid storage disorders is treatable. Wolman's disease is not one of them and is considered a fatal childhood disease because most children die during the first year of life. There is currently no treatment and no treatment that could reverse the effects of gene mutation. Treatment of this disease focuses on mastering symptoms such as anemiea malnutrition.

One of the most common wolman treatments is the use of intravenous nutritional supplements thatThey go around the digestive system. Other common therapy is blood transfusions for the treatment of anemia. However, there are no treatments that could prevent the accumulation of lipids in organs; For this reason, some infants with disease eventually require surgery to remove the enlarged spleen. If the fat deposition reduces the function of above -the -lews, medicines can be administered that would replace hormones that the glands would normally exclude.

There is one recorded instance of Wolman's disease that actually provides a long -term benefit to a person with the condition. In this case, the treatment of bone marrow transplantation was caused by the disease to enter a state of remission in a person who was treated. This single success means that there is a potential for bone marrow transplantation to become a standard treatment of the disease, but the successful result has not been replicated in the second patient.