No specific definitive treatment is available for patients with any NPD type, and treatment is purely supportive
Treatment consists of supportive care to deal with symptoms and the development of complications.
A diagnosis of Niemann-Pick disease is confirmed by analyzing a sample of tissue.
Bone marrow transplantation is being investigated as a possible treatment.
At least five different forms of Niemann-Pick disease (NPD) have been identified.
Some adults with Niemann-Pick disease (Type E) may also show a loss of muscle coordination.
Ultimately, the nervous system becomes severely damaged and patients with Types C and D Niemann-Pick disease die.
Both Niemann-Pick disease types A and B occur in many ethnic groups; however, they occur more frequently among individuals of Ashkenazi Jewish descent than in the general population.
The different types seem to be related to the activity level of the enzyme sphingomyelinase.
Types C or D NPD are related to cholesterol transfer out of cells.
NPD-B patients have an enlarged liver, no neurological involvement, and often survive into adulthood.
It's called Niemann-Pick disease type C. Basically the body cannot digest cholesterol and it builds up in certain organs including the brain.
Prenatal diagnosis of Types A and B of NPD can be done with amniocentesis or chorionic villus sampling.