Niemann-Pick disease consists of a group of very rare genetic syndromes that are inherited within the same family and that cause the accumulation of lipids in some organs such as the brain, spleen or liver, for example.
Depending on the organs affected, and the symptoms, Niemann-Pick disease can be divided into three main groups:
- Type A: it is the most severe type and usually appears in the first months of life, reducing survival to around 4 to 5 years of age; Type B: it is a less severe type A that allows survival until adulthood. Type C: it is the most frequent type that usually appears in childhood, but can develop at any age.
There is still no cure for this disease, however, it is important to have regular visits to the pediatrician to assess whether there are any symptoms that can be treated, in order to improve the child's quality of life.
Main symptoms
The symptoms of Niemann-Pick disease vary according to the type of disease and the organs affected, so the most common signs in each type include:
Type A
- Belly swelling around 3 or 6 months; Difficulty to grow and gain weight; Normal mental development until the first 12 months, which then deteriorate; Respiratory problems that cause recurrent infections.
Type B
Type B symptoms are very similar to those of type A Niemann-Pick disease, but are generally less severe, and may appear in later childhood or during adolescence, for example.
Type C
- Difficulty in coordinating movements; Swelling in the belly; Difficulty in moving the eyes vertically; Decreased muscle strength; Problems in the liver or lungs; Difficulty in speaking or swallowing, which may get worse over time; Convulsions; Gradual loss of mental capacity.
When symptoms appear that may indicate this disease, or there are other cases in the family, the doctor usually performs diagnostic tests, such as a bone marrow test or a skin biopsy, to confirm the presence of the disease.
What causes Niemann-Pick disease
Niemann-Pick disease, type A and type B, appears when the cells of one or more organs do not have an enzyme known as sphingomyelinase, which is responsible for metabolizing the fats that are inside the cells. Thus, if the enzyme is not present, fat is not eliminated and accumulates within the cell, which ends up destroying the cell and impairing the organ's functioning.
Type C of this disease happens when the body is not able to metabolize cholesterol and other types of fat, which causes them to accumulate in the liver, spleen and brain and leading to the appearance of symptoms.
In all cases, the disease is caused by a genetic change that can pass from parents to children and, therefore, is more frequent 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.
How the treatment is done
Since 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 monitoring by a doctor to identify early symptoms that can be treated, in order to improve the life quality.
Thus, if difficulty to swallow, for example, it may be necessary to avoid very hard and solid foods, as well as using gelatine to make the liquids thicker. If there are frequent seizures, your doctor may prescribe an anticonvulsant medication, such as Valproate or Clonazepam.
The only form of the disease that seems to have a drug that can slow its development is type C, since studies show that the substance miglustat, sold as Zavesca, blocks the formation of fatty plaques in the brain.
