Niemann-Pick disease refers to a group of inherited conditions that affect the body’s metabolism. In patients with this rare disorder, fatty material builds up in various vital organs, sometimes including the brain.
There are four main types of Niemann-Pick disease:
Niemann-Pick disease is inherited. It is an autosomal recessive trait, which means that both parents must carry the abnormal gene for their child to inherit the disease. The exact cause depends on the type of Niemann-Pick disease.
A fatty material called sphingomyelin builds up in the patient's organs. This substance is normally present in the membrane of most cells. The enzyme acid sphingomyelinase normally breaks down this substance. However, people with type A or B either do not have enough of this enzyme or this enzyme does not work properly. Without the properly functioning enzyme, this fatty material builds up in the cells. The cells die and the organ does not work properly.
In these two types, nerve cells in the brain are unable to move cholesterol out. This allows cholesterol to build up, which keeps cells from functioning normally.
A risk factor is something that increases your chance of getting a disease or condition.
Risk factors for Niemann-Pick disease include:
Symptoms of Niemann-Pick disease may develop during infancy, childhood, or the teen years, depending on the type of the disease. Symptoms vary. Not all patients will develop every symptom. Symptoms usually worsen over time.
Symptoms begin within the first few months of life. They may include:
Symptoms start during pre-teen years. They may include:
Symptoms may start in infancy, childhood, or teen years. They may include:
The doctor will ask about the child’s symptoms and medical history, and perform a physical exam.
Tests may include:
No specific or effective treatment currently exists for Niemann-Pick disease. Patients with type B may be given oxygen to help with lung problems. Research is focusing on the use of bone marrow transplantation, enzyme replacement therapy, and gene therapy.
There are no specific guidelines for preventing Niemann-Pick disease. Prevention measures are currently available in the areas of genetic testing and prenatal diagnosis. If you have Niemann-Pick disease or a have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
National Institute of Neurological Disorders and Stroke
National Niemann-Pick Disease Foundation, Inc.
National Niemann-Pick Disease Foundation
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Robbins & Cotran Pathologic Basis of Disease . 7th ed. Elsevier Saunders; 2005.
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Last reviewed November 2012 by Kari Kassir, MD
Last Updated: 11/26/2012