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Niemann-Pick Disease

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Niemann-Pick Disease

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.

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Causes

Niemann-Pick disease is caused by changes in genes that affect how the body processes fat. Both parents must carry the genes for a child to get the disease.

There are three 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.

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.

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 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 the 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
RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

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.
  • Niemann-Pick disease overview. National Niemann-Pick Disease Foundation, Inc. website. Available at: https://nnpdf.org/diseases.
  • NINDS Niemann-Pick disease information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/health-information/disorders/niemann-pick-disease.

Contributors

  • Kari Kuenn, MD
Last Updated:
2022-09-01

(C) Copyright 2023 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.