What is Niemann-Pick disease?
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. This disorder is divided into four main types based on the genetic cause and the signs and symptoms. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. Children affected by this condition generally do not survive past early childhood.
Niemann-Pick disease type B has a range of features that may include hepatosplenomegaly, growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as elevated levels of cholesterol and other lipids (fats), and decreased numbers of blood cells involved in clotting (platelets). Niemann-Pick disease type B is also known as the non-neurological type because the nervous system is not usually affected. People with Niemann-Pick disease type B usually survive into adulthood. Niemann-Pick disease type C usually appears in childhood, although infant and adult onsets are possible. Signs of Niemann-Pick disease type C include severe liver disease, breathing difficulties, developmental delay, seizures, poor muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically.
People with this disorder can survive into adulthood. Niemann-Pick disease type C is further subdivided into types C1 and C2, each caused by a different gene mutation.Niemann-Pick is an inherited disease that affects lipid metabolism, or the way fats, lipids, and cholesterol are stored in or removed from the body. In people with Niemann-Pick, abnormal lipid metabolism causes the buildup of harmful amounts of lipids in various organs. The disease primarily affects the liver, spleen, bone marrow, and brain. The disease is broken down into five types—type A, type B, type C, type D, and type E.Organs affected, symptoms, and treatments vary based on the particular type of Niemann-Pick disease. However, every type of the disease is extremely severe, and can seriously shorten a person’s life expectancy.