Niemann-Pick Disease

Definition

Causes

Risk Factors

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

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:

Blood tests
Skin biopsy

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

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