Culture and Disease Paper
Stephanie Benitz
HCS/245
January 10, 2011
Kimberly Porter
Niemann-Pick Disease
Niemann-Pick disease is described as 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. The disorder has four main types based on the genetic cause and the signs and symptoms.
Niemann-Pick disease type A appears during infancy and 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. Because of 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, and making it to the age of two and four. Children have known to even survive longer with possessing mental and retardation problems. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (a religious sect) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately one in 40,000. It was spread through generations of ancestors to time of age. As of the present time this known disease has affected millions of children to date, affected their brains and mental capacity to perform normal daily activities that many children across the world have been considered the norm.
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...