October is Niemann-Pick Disease Awareness Month

Niemann-Pick Disease.  The average person probably hasn’t heard of it unless a relative or friend has a child with this rare set of genetic disorders.

“The Rhode Island Legislature proclaimed October Niemann-Pick Disease Awareness Month to call attention not only to this disorder but to all the rare genetic diseases,” explains Patricia A. Nolan, MD, MPH.  “Although each disease may affect only a small number of victims and receive little research support, together they cause a considerable number of deaths, especially among children.”

There are probably no more than few hundred people in the United States with Niemann-Pick disease, which is caused by a genetic mutation that inhibits the production of certain lipid (fat) enzymes.  In its most severe form, with almost no enzyme production, a infant begins to show neurological symptoms at two or three months and may die in the first year of life.  In less severe cases (up to ten percent of normal enzyme activity), patients generally have less or no neurological involvement and may survive into late childhood or adulthood.    The disease enlarges livers and spleens and causes respiratory problems, all of which can cause cardiovascular stress and lead to heart disease.

Another form of the disease limits the patient’s ability to metabolize (break down) 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.  Only 300-400 cases of this form of the disease have been diagnosed world–wide but it is often misdiagnosed as a learning disability, mild retardation, “clumsiness,” and delayed development of fine motor skills. Many victims die before age 10, the vast majority before age 20, but a few with late onset of symptoms have lived to 40.

Niemann-Pick affects all segments of the population.  However, a higher incidence has been found in certain populations:  Ashkenazi Jews, French Canadians of Nova Scotia, the Maghreb region of Tunisia, Morocco and Algeria and the Spanish-American population of southern New Mexico and Colorado. A subcategory of the disease is found only among descendants of one French Canadian couple who lived in Yarmouth County, Nova Scotia at the beginning of the 16^th century.  Niemann-Pick is always fatal, usually before adulthood.

For further information, consult the National Niemann-Pick Disease Foundation website:  www.nnpdf.org.