Niemann-Pick Disease
by
Cynthia M. Johnson, MA DefinitionNiemann-Pick disease is a problem with the body's ability to process cholesterol and other fatty substances inside of cells. This causes it to build up in vital organs, such as the brain.
CausesNiemann-Pick disease is caused by faulty genes. Both parents must carry the genes for a child to get the disease. There are 3 main types of the disease:
Risk FactorsThings that may raise the risk of this problem are:
SymptomsSymptoms vary depending on the type. Problems get worse over time. Type ASymptoms start in the first few months of life. They may be:
Type BProblems start during pre-teen years. They may be:
Types C and DProblems may start in infancy, childhood, or the teen years. They may be:
DiagnosisThe doctor will ask about your child’s symptoms and health history. A physical exam will be done. These tests may also be done:
TreatmentThere is no cure. The goal is to manage symptoms. The methods used to do this depend on the disease type and severity. PreventionThere are no known guidelines to prevent this health problem. RESOURCES:National Institute of Neurological Disorders and Stroke https://www.ninds.nih.gov National Niemann-Pick Disease Foundation, Inc. http://www.nnpdf.org CANADIAN RESOURCES:International Niemann–Pick Disease Alliance https://www.inpda.org Health Canada http://www.canada.ca References:Geberhiwot T, Moro A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. Niemann Pick disease type C. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/niemann-pick-disease-type-c. Accessed October 30, 2020. Niemann-Pick disease overview. National Niemann-Pick Disease Foundation, Inc. website. Available at: ...(Click grey area to select URL) Accessed October 30, 2020. NINDS Niemann-Pick disease information page. National Institute of Neurological Disorders and Stroke website. Available at:
https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page. Accessed October 30, 2020. Last reviewed September 2020 by EBSCO Medical Review Board
Kari Kassir, MD Last Updated: 5/11/2021 | |
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