Rare Disease Day 2022: Niemann-Pick Disease
Niemann-Pick Disease is a genetic disorder caused by autosomal recessive mutations in genes relating to lipid metabolism. The condition presents in childhood as a progressive inability to metabolise fats within cells, resulting in a build-up of fat within the cells. Over time this causes progressive developmental and neurological problems. Many organs can be affected including the brain, liver, spleen, bone marrow and lungs.
Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent at around 1 in 40,000 individuals.*
Niemann-Pick disease types C1 and C2 are estimated to affect 1 in 150,000, although C1 is by far the more common type, accounting for 95 percent of cases. The disease occurs more frequently in people of French-Canadian descent in Nova Scotia.
Onset and life expectancy varies depending on the variation of the rare disease in question. There is currently no effective treatment for types A or B, but there is potential for the treatment of mild to moderate type C using Miglustat.
Learn more at NPUK
*https://medlineplus.gov/genetics/condition/niemann-pick-disease/#frequency Accessed: January 2022
If you’d like to read up on other rare diseases, why not take a look at our post on Huntington’s Disease.