Niemann-Pick Disease has three variations. Type A, B, and C. Niemann-Pick Type C (NPC) is very different than Type A or B. NPC Patients are not able to metabolize cholesterol and other lipids properly within the cell. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. NPC causes a secondary reduction of ASM activity, which led all three types to be considered forms of the same disease.

—To learn more about Niemann-Pick Type A & B—- or visit Brisan and Parker’s Website for Type C.

There is considerable variation in when Type C symptoms first appear and in the progression of the disease. Symptoms may appear as early as a few months of age or as late as adulthood. Vertical gaze palsy (the inability to move the eyes up and down), enlarged liver, enlarged spleen, or jaundice in young children are strong indications that NPC should be considered. It is common for only one or two symptoms to appear in the early stages of the disease.

In most cases, neurological symptoms begin appearing between the ages of 4 and 10. Generally, the later neurological symptoms begin, the slower the progression of the disease.

Type C Niemann-Pick Disease has about 500 cases diagnosed worldwide. It is believe, however, that the number of people affected by NPC is higher, but diagnostic difficulties do not allow an accurate assessment of the occurrence rate. Currently in the United States it is believed to be around 75 cases. NPC has been initially diagnosed as a learning disability, mild retardation, “clumsiness,” and delayed development of fine motor skills. It is not uncommon for a family to spend several years seeking a diagnosis before NPC is identified.

NPC is always fatal. The vast majority of children die before age 20 (and many die before the age of 10). Late onset of symptoms can lead to longer life spans but it is extremely rare for any person with NPC to reach age 40.

Niemann-Pick Disease affects all segments of the population with cases reported from North America, South America, Europe, Africa, Asia, and Australia. However a higher incidence has been found in certain populations:

* Ashkenazi Jewish population (NPA and NPB)
* French Canadian population of Nova Scotia (type D – now considered a variant of NPC)
* Maghreb region (Tunisia, Morocco, and Algeria) of North Africa (NPB)
* Spanish-American population of southern New Mexico and Colorado (NPC)

National Niemann Pick Disease Foundation. Overview. Date of Internet publication unknown. June 27, 2009 http://www.nnpdf.org/npdisease_01.html