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.
Some forms of the disease can be diagnosed during ante natal screening. After birth, the diagnosis is made by a liver biopsy where liver tissue specimens are obtained and studied under a microscope. Niemann-Pick disease does not have a complete cure, though treatments that halt the disease progression are being studied. Affected children tend to die of infection or progressive dysfunction of the central nervous system.Results of a survey shows the extrapolation of Prevalence Rate of Niemann-Pick disease type C2 in Italy is 387.Investigators at the NINDS have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage disorders.