Niemann-Pick disease is a rare inherited metabolic disease. The disease differs in two causally different types with different course: A and B are due to the lack of an enzyme, C due to a lack of transport of endogenous cholesterol. In Switzerland there are probably fewer than 30 affected patients. We have figures regarding type C. At the present time 14 patients got a diagnostic. Several other cases are being checked.
In type A and C, show predominantly neurological symptoms that usually lead in the first three decades of life (C) or in the first years of life (A) to death. Patients with type B do not suffer from neurological symptoms, but organic. Affected are mostly lung, liver and spleen. The life expectancy of B patients is usually higher. Niemann-Pick disease is poorly understood and not currently curable.
Living with NP-C: The Poincilit family - a Film by Michael Werder.
The Poincilit Story - Life after NP-C Diagnosis - a Film by Michael Werder.
For more information:
- Orphanet - The portal for rare diseases and Orphan Drugs
- Niemann-Pick-c.com (Actelion)
- Genetics Home Reference (U.S. National Library of Medicine, Dep. of Health and Human Services)
- University of Notre Dame (Indiana, USA)
Medical information on this website is maintained by Matthias Oetterli (journalist BR and father of an NPC patient). Information is checked by Dr. med . Marianne Rohrbach, Department of Metabolic Diseases, University Children's Hospital Zurich (CH).