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Niemann-Pick Disease

by Cynthia M. Johnson, MA

Definition

Niemann-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.

Liver and Spleen

Child intestines
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Causes

Niemann-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:

  • Types A and B—a person has a faulty or missing enzyme that is needed to process fat
  • Type C—faulty genes cause cholesterol and other fats to build up in the liver, spleen, lungs, or brain (rare)

Risk Factors

Things that may raise the risk of this problem are:

  • Having other family members with the disease
  • Ashkenazi Jewish heritage—types A and B
  • Nova Scotia, French-Canadian descent—type C
  • Spanish-American descent—type C
  • North African descent—type B

Symptoms

Symptoms vary depending on the type. Problems get worse over time.

Type A

Symptoms start in the first few months of life. They may be:

  • Yellowing of the skin and the whites of the eyes
  • Cherry red spot in the eye
  • Enlarged belly
  • Learning problems
  • Loss of motor skills
  • Problems swallowing and feeding
  • Eyesight problems
  • Muscle spasms or stiffness

Type B

Problems start during pre-teen years. They may be:

  • Yellowing of the skin and the whites of the eyes
  • Enlarged belly
  • Swollen lymph nodes
  • Breathing problems

Types C and D

Problems may start in infancy, childhood, or the teen years. They may be:

  • Yellowing of the skin and the whites of the eyes
  • Problems walking and moving
  • Problems swallowing
  • Trouble looking up or down
  • Eyesight problems
  • Hearing loss
  • Slurred speech
  • Enlarged belly
  • Problems swallowing
  • Learning problems
  • Shaking

Diagnosis

The doctor will ask about your child’s symptoms and health history. A physical exam will be done.

These tests may also be done:

Treatment

There is no cure. The goal is to manage symptoms. The methods used to do this depend on the disease type and severity.

Prevention

There 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