Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. An inherited disease, there is no known cure for Niemann-Pick, but research continues.
- Expertise. Mayo Clinic doctors are well acquainted with this complicated disease and are experienced at distinguishing Niemann-Pick from other diseases with similar symptoms. Mayo Clinic has one of the few labs with the ability to run the advanced biochemical and genetic tests required to diagnose Niemann-Pick disease.
- Experience and team approach. Mayo Clinic doctors have years of experience in caring for people who have Niemann-Pick disease. Specialists from neurology, pulmonary medicine, gastroenterology and hepatology, ophthalmology and other areas work as a team to accurately diagnose the disease and treat the challenging symptoms.
- Active research. While there is no known cure for Niemann-Pick disease, Mayo Clinic's ongoing research involves studying potential treatments.
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- Niemann-Pick types A and B. In these types, a fatty substance called sphingomyelin cannot be broken down (metabolized) by the body because an enzyme called acid sphingomyelinase (ASM) is missing or not working properly. Sphingomyelin and other fats accumulate in the liver and spleen, causing enlargement of these organs, and accumulate in the brain. Type A occurs mainly in infants who show severe, progressive brain disease. There is no cure, so most children do not live beyond their first few years. Type B usually occurs later in childhood and is not associated with primary brain disease. Most individuals affected with type B survive into adulthood.
- Niemann-Pick type C (NPC). NPC is a rare inherited disease. Mutations in one of the NPC1 or NPC2 genes cause cholesterol and other fats to accumulate in the liver, spleen and brain. All parts of the brain are eventually affected. NPC is a progressive disease and there is no cure. NPC can occur at any age, but about half of those affected have symptoms before age 10.
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National Niemann-Pick Disease Foundation
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Diagnosis of Niemann-Pick disease begins with a thorough physical exam, including a detailed medical history, discussion of symptoms and family history. Niemann-Pick disease is rare and its symptoms can be confused with other diseases. Diagnostic techniques depend on the type of Niemann-Pick disease.
- Type A or B. Using a blood sample or a bone marrow sample (biopsy), experts measure how much acid sphingomyelinase (ASM) is in white blood cells to confirm the diagnosis.
- Type C. Experts take a small sample of skin to test for Niemann-Pick to assess how the cells move and store cholesterol. DNA testing for NPC1 and NPC2 genes can be done using a blood sample.
Other tests may also be done, such as:
- Magnetic resonance imaging (MRI). An MRI of the brain may show loss of brain cells. However, in the early stages of Niemann-Pick, an MRI may be normal because symptoms typically occur before the loss of brain cells.
- Eye exam. An eye exam can show symptoms that may be an indication of Niemann-Pick disease, such as eye movement difficulties.
- Genetic testing. Genetic testing may show the genetic mutations that cause Niemann-Pick types A, B and C disease. DNA tests can show who the carriers are for all types of Niemann-Pick disease if the mutations have been described in the first person identified in a family (the index case).
Read more about skin biopsy, bone marrow biopsy, MRI and genetic testing.
No cure exists for Niemann-Pick disease. At this time, there is no effective treatment for type A. For type B, bone marrow transplantation is being studied as a possible treatment, along with enzyme replacement therapy and gene therapy. Miglustat (Zavesca) is approved for treatment of Niemann-Pick type C in Europe and in several countries, but not in the U.S.
At Mayo Clinic, specialists work together to offer quality care to manage signs and symptoms, such as:
- Sudden loss of muscle tone (cataplexy)
- Excessive muscle contractions (dystonia)
- Sleep disturbances
- Difficulty swallowing and eating
- Recurrent pneumonia
Physical therapy is an important part of treatment to help maintain mobility as long as possible. Progressive symptoms of the disease require frequent medical follow-up.
Mayo Clinic works with hundreds of insurance companies and is an in-network provider for millions of people. In most cases, Mayo Clinic doesn't require a physician referral. Some insurers require referrals or may have additional requirements for certain medical care. All appointments are prioritized on the basis of medical need.
Specialists at Mayo Clinic in Arizona care for adults who have Niemann-Pick disease. This disease is treated by specialists in neurology, ophthalmology, pulmonary medicine, physical medicine and rehabilitation, and gastroenterology and hepatology.
For appointments or more information, call the Central Appointment Office at 800-446-2279 (toll-free) 8 a.m. to 5 p.m. Mountain Standard Time, Monday through Friday or complete an online appointment request form.
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Specialists at Mayo Clinic in Florida care for adults who have Niemann-Pick disease. This disease is treated by specialists in neurology, ophthalmology, pulmonary medicine, physical medicine and rehabilitation, and gastroenterology and hepatology.
For appointments or more information, call the Central Appointment Office at 904-953-0853 8 a.m. to 5 p.m. Eastern time, Monday through Friday or complete an online appointment request form.
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Specialists at Mayo Clinic's campus in Rochester, Minn., care for children and adults who have Niemann-Pick disease. This disease is treated by specialists in pediatric and adolescent medicine, neurology, ophthalmology, pulmonary medicine, physical medicine and rehabilitation, gastroenterology and hepatology and medical genetics.
For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.
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See information on patient services at the three Mayo Clinic locations, including transportation options and lodging.
Researchers at Mayo Clinic are actively involved in investigating drugs in the treatment for Niemann-Pick disease type C and in studying cognition in NPC.
See a list of publications on Niemann-Pick disease from Mayo doctors on PubMed, a service of the National Library of Medicine.
Nov. 19, 2012