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).

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