Wolman's Disease

Wolman disease is one of the rare hereditary diseases that can lead to premature death. This is a serious disease associated with the accumulation of cholesterol esters in the body and is characterized by damage to internal organs and systems. Wolman's disease got its name in honor of the American pediatrician William Wolman, who first described this disease.

Symptoms of Wolman disease can appear at an early age, when the child begins to grow and develop. A sick child may experience abdominal pain, nausea, vomiting, diarrhea, weakness and fatigue. In addition, over time, the patient may experience problems with the liver, heart, lungs and nervous system. If left untreated, the disease can lead to the death of a child early in life.

Various methods are used to diagnose Wolman's disease, including laboratory blood tests and tissue biopsies. Treatment for this disease depends on the severity of the symptoms and their location. In some cases, diets that limit the intake of fats and carbohydrates, as well as drug therapy that helps lower blood cholesterol levels, help. However, in most cases, the disease requires surgery to remove excess fat from the liver, heart or lungs

Wolman's disease

Description Wolman's disease is a hereditary disease that is associated with metabolic disorders. It is characterized by the accumulation of cholesteryl esters in cells. This leads to symptoms such as obesity, changes in the skin, liver and heart. The disease was first described in 1954 by American doctors William Wolman and Carolyn Pope.

Diet and medications are used for treatment. In difficult cases, liver cell transplantation is possible.

In addition, there is a risk of developing malignant neoplasms, liver cirrhosis, and myocardial infarction.

Wolman disease is a rare hereditary disease that is caused by a mutation in the WOL gene, which is responsible for the accumulation of cholesteryl esters in the body. Symptoms of the disease include severe abdominal pain, fever, diarrhea and other gastrointestinal disorders, as well as changes in the liver and pancreas.

The mechanism of occurrence of Wolman's disease is that insufficient levels of the hydrolase enzyme responsible for the digestion of cholesterol esters cause the accumulation of these substances in the blood and tissues of the body. These cholesteryl esters can accumulate in various organs, including the liver, pancreas, intestines, and nervous system.

Treatment for Wolman disease may include hospitalization and the use of medications to lower cholesteryl ester levels and prevent complications. In more severe cases, organ or tissue transplantation may be required.

This rare disease occurs throughout the world, but predominantly affects African Americans and Asians, including Chinese and Japanese. According to the National Center for Lipid Storage Diseases in the United States, 6 new cases of Wolman's disease were reported in Russia in 2018, although exact statistics are unknown

Wolman disease is a rare genetic disease caused by a deficiency of an enzyme necessary for the metabolism of bile acids. A sick person must take bile acids through oral administration of choleretic and antidyspeptic drugs, in addition to following a certain diet, due to which he experiences relief in the form of a decrease in steatorrhea and choleresis. The disease cannot be cured completely, but it can be treated throughout your life. There are also many genes that cause less severe Wolman disease, when there is no disruption of cholesterol metabolism in the intestinal tract, as well as genes that can prevent it. All people with Wolman disease have mutations in the gene on the X chromosome - WOLFL3.

The first symptoms of Wolman disease in newborns usually appear about a month after birth. In most cases, the first symptom in babies is constipation and jaundice, followed by progression of symptoms. If you have such symptoms, it is important to get tested for this disease in time. But at 2-4 months of life, all children begin to go to the toilet using a potty. And if at first the boy wears a diaper, as usual, then after a few days he begins to ask to go to the potty on his own.

Fatty acid deficiency impairs the formation of lipoproteins in the liver, as they promote the absorption of chenodeoxycholic acid. With liver damage, the defect disappears. Certain fractions of chenodesoloxanoic acid leave the body, which leads to toxicosis: fever, abdominal pain, hepatomegaly, hyperthermia, discomfort in the lower abdomen, vomiting and severe diarrhea. The pain is partially relieved by nausea. The mild variant of the disease in the absence of Sturge-Weber syndrome does not cause specific toxic problems. This is only manifested by fat secretions in the feces. The effect of steatorrhea in most cases occurs after reaching critical periods of intestinal development and is characterized by a long course of the disease in a teenager. After receiving the classic syndrome with ste