Niemann-Pick Disease

Definition

Causes

Risk Factors

Niemann-Pick Disease

by Cynthia M. Johnson, MA

Definition

Niemann-Pick disease is a group of problems with body’s metabolism. Fatty material builds up in vital organs, such as the brain.

There are four main types:

Type A—Causes fatty material to collect in the liver and spleen. Children have severe brain damage and die by two to three years of age.
Type B—Affects the liver and spleen. Organs get larger during the pre-teen years. There is often no brain damage. Children have breathing problems and die as teens or young adults.
Type C—Causes extensive brain damage. The liver and spleen are moderately enlarged. Type C starts in childhood and leads to death in teens or young adults.
Type D—Like type C, but happens only in people related to a family that lived in Nova Scotia at the start of the 1700s. Type D is now recognized as a variation of type C.

Liver and Spleen

Causes

Niemann-Pick disease is inherited. Both parents must carry the faulty gene for their child to get the disease. The cause depends on the type of Niemann-Pick disease.

Types A and B

A fatty material called sphingomyelin builds up in the organs. This substance is present in the membrane of most cells. The enzyme sphingomyelinase breaks down this substance. People with type A or B either do not have enough of this enzyme or this enzyme does not work the right way. Without the working enzyme, this fatty material builds up in the cells. The cells die and the organ does not work the right way.

Types C and D

In these two types, nerve cells in the brain are not able to move cholesterol out. It builds up, which keeps cells from working the right way.

Risk Factors

This disease affects the following people:

Family members with Niemann-Pick disease
Ashkenazi Jewish heritage—types A and B
Nova Scotia, French-Canadian ancestry—type D
Spanish-American population of southern New Mexico and Colorado—type C
North African ancestry, Maghreb region including Tunisia, Morocco, and Algeria—type B

Symptoms

Symptoms of Niemann-Pick disease may happen during infancy, childhood, or the teen years. Symptoms vary. They worsen over time.

Type A

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

Yellow skin and eye coloration
Cherry red spot in the eye
Enlarged belly
Intellectual disability
Loss of motor skills
Problems swallowing and feeding
Seizures
Problems seeing
Spastic movements—later in disease
Stiff muscles—later in disease

Type B

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

Yellow skin and eye coloration
Enlarged belly
Enlarged lymph nodes
Brittle bones
Breathing problems
Frequent lung infections

Types C and D

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

Yellow skin and eye coloration
Unsteady movement
Trouble walking
Problems swallowing
Unable to look up or down
Problems seeing
Hearing loss
Slurred speech
Enlarged belly
Loss of motor skills
Problems swallowing
Learning problems
Shaking
Seizures

Diagnosis

You will be asked about your child’s symptoms and health history. A physical exam will be done.

Your child may have:

Blood tests
Skin biopsy

Treatment

Niemann-Pick disease can’t be treated. Treatment is aimed at easing symptoms. For example, those with type B may be given oxygen to help with lung problems.

Prevention

There is no known way to prevent Niemann-Pick disease. If you have Niemann-Pick disease or have a family history of it, you can talk to a genetic counselor when deciding to have children.

RESOURCES:

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

National Niemann-Pick Disease Foundation, Inc.
http://www.nnpdf.org

CANADIAN RESOURCES:

Health Canada
http://www.canada.ca

Canadian Chapter—National Niemann-Pick Disease Foundation
http://www.nnpdf.ca

References:

Niemann-Pick disease. Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/condition/niemann-pick-disease. Updated July 3, 2018. Accessed July 6, 2018.

Niemann-Pick disease overview—types A, B, and C. National Niemann-Pick Disease Foundation, Inc. website. Available at:
...(Click grey area to select URL)
Updated September 9, 2009. Accessed July 6, 2018.

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 July 6, 2018.

Last reviewed May 2018 by Kari Kassir, MD
Last Updated: 7/6/2018

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