Niemann-Pick

Overview

Mayo Clinic physicians have years of experience in caring for patients who have Niemann-Pick disease. Physicians from the Department of Neurology work with an integrated team of specialists from pediatrics, medical genetics and other areas to accurately diagnose patients and to treat the many debilitating symptoms of the disease. While there is no known cure for Niemann-Pick disease, Mayo Clinic researchers are studying possible treatments.

Mayo Clinic in Minnesota is ranked No. 1 in Neurology and Neurosurgery by U.S. News and World Report.

Diagnosis

Diagnosis of Niemann-Pick disease involves a thorough examination and biochemical and genetics tests. Mayo Clinic physicians are experienced at distinguishing this complicated disease from other diseases with similar symptoms.

Learn about Niemann-Pick diagnosis.

Treatment Options

There is no cure or effective treatment for Niemann-Pick. Mayo specialists work as a team to help patients manage the debilitating symptoms of the disease. Research on an experimental treatment for Niemann-Pick disease type C is underway at Mayo Clinic. See research.

Learn about Niemann-Pick treatment options.

• Treatment in Arizona
• Treatment in Florida
• Treatment in Minnesota

MRIs show loss of brain cells

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About Niemann-Pick

Niemann-Pick disease primarily affects children, although it can occur later in life. Niemann-Pick disease has three common types known as A, B and C. All affect the body's ability to metabolize lipids (fats) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. The Niemann-Pick diseases mainly affect the brain, liver, spleen, bone marrow and, in severe cases, the lungs.

Niemann-Pick disease type C is a rare inherited disease, which affects approximately 1 in 150,000 people. Niemann-Pick disease type C is a progressive disease, and it is always fatal. The majority of patients whose illness begins in childhood do not live past age 20. Some adults who have the disease may survive into their 60s.