A biochemical disorder affecting a lipid (fat) called sphingomyelin, resulting usually in progressive enlargement of the liver and spleen (hepatosplenomegaly), "swollen glands" (lymphadenopathy), anemia and mental and physical deterioration. Niemann-Pick disease is hereditary and follows an autosomal recessive pattern.Types A and B occur when acid sphingomyelinase (ASM) is not properly produced in the body, specifically in the white blood cells. Type C is primarily concerned with the body’s inability to efficiently remove excess cholesterol and other lipids. Without proper breakdown, cholesterol builds up in the spleen and liver, and excessive amounts of other fats accumulate in the brain. Type D occurs when the body cannot properly move cholesterol between cells of the brain, and is believed to be a variant of type C. Type E is a rare type of Niemann-Pick disease that occurs in adults. Little is known about this type. This disease mainly causes swollen lymph nodes, brain damage, lung disease, respiratory infections, tremors, neurological problems etc.
Bone marrow transplants have been done on a few patients with type B with encouraging results. Researchers continue to study possible treatments, including enzyme replacement and gene therapy. There is no specific treatment for type D. A new medicine called miglustat is available for the nervous system symptoms of type C. A healthy, low-cholesterol diet is recommended. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. However, medicines are available to control or relieve many symptoms, such as sudden loss of muscle tone and seizures.Results of a survey shows the extrapolation of Prevalence Rate of Niemann-Pick disease type C2 in Netherlands is 158.Niemann-Pick Type C is a genetic, cholesterol storage disorder that primarily strikes children with death occurring before or during adolescence. There is also an adult onset form of the disease.