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 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. A physical exam will be done.
Your child's bodily fluids and tissues may be tested. This can be done with:
No specific or effective treatment currently exists for Niemann-Pick disease. Treatment is aimed at managing symptoms. For example, patients with type B may be given oxygen to help with lung problems.
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
Niemann-Pick disease. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/niemann-pick-disease. Updated January 2008. Accessed August 9, 2013.
Niemann-Pick disease overview—types A, B, and C. National Niemann-Pick Disease Foundation, Inc. website. Available at: http://www.nnpdf.org/npdisease_01.html. Accessed August 9, 2013.
NINDS Niemann-Pick disease information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/niemann/niemann.htm. Updated October 6, 2011. Accessed August 9, 2013.
Last reviewed August 2013 by Kari Kassir, MD; Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.