Niemann-Pick disease is a group of very rare genetic syndromes inherited from the same family that cause lipids to build up in certain organs such as the brain, spleen or liver, for example.
Depending on the organs and symptoms affected, Niemann-Pick disease can be divided into three main groups:
- There is no cure for this disease yet.
- However.
- It is important to go to regular visits to the pediatrician to assess whether there are symptoms that can be treated.
- In order to improve the quality of life of the child.
Symptoms of Niemann-Pick disease vary depending on the type of disease and organs affected, so the most common signs of each type include:
Type B symptoms are very similar to those of Niemann-Pick type A disease, but are generally less severe and may occur later in childhood or adolescence, for example.
When symptoms appear that may indicate this disease or there are other cases in the family, your doctor usually performs diagnostic tests, such as a bone marrow test or skin biopsy, to confirm the presence of the disease. .
Niemann-Pick disease, type A and type B, occurs when cells in one or more organs do not have an enzyme called sphingomyelinase, which is responsible for the metabolism of fats within cells. Therefore, if the enzyme is not present, the fat is not removed and accumulates within the cell, which eventually destroys the cell and alters the functioning of the organ.
Type C of this disease occurs when the body is unable to metabolize cholesterol and other types of fat, which causes it to build up in the liver, spleen and brain and cause symptoms to develop.
In all cases, the disease is caused by a genetic change that can pass from parents to children and is therefore more common within the same family, although parents may not have the disease, if there are cases in both families, there is a 25% chance that the baby will be born with Niemann-Pick syndrome.
As there is still no cure for Niemann-Pick disease, there is also no specific form of treatment and therefore it is important to have regular follow-up by a doctor to identify the first symptoms that can be treated, in order to improve quality. life.
For example, if it becomes difficult to swallow, it may be necessary to avoid very hard and solid foods, as well as use gelatin to thicken liquids. If there are frequent seizures, your doctor may prescribe an anti-seizure medication, such as valproate. or clonazepam.
The only form of the disease that appears to have a drug capable of slowing its development is type C, as studies show that the substance miglustat, sold under the name Zavesca, blocks the formation of fat plaques in the brain.