Diagnosis of Niemann-Pick disease begins with a physical exam. The exam may show an early warning sign such as a liver or spleen that is too large. Your healthcare professional talks with you about symptoms and your family health history. Niemann-Pick disease is rare, and its symptoms can be similar to those of other health conditions, so testing is needed to get the right diagnosis.

Diagnostic tests depend on the type of Niemann-Pick disease.

  • Type A or B. Using blood or a tiny sample of skin, experts measure how much sphingomyelinase is in white blood cells. Sphingomyelinase is an enzyme that breaks down and uses fat.
  • Type C. Experts use a blood sample to measure levels of a specific type of cholesterol called oxysterol. In rare cases, a small sample of skin also can be used to tell how the cells move and store cholesterol.

Other tests also may be done, such as:

  • Genetic testing. DNA testing of a blood sample may show the specific gene changes that cause Niemann-Pick disease types A, B and C. People who have only one copy of the gene change but do not have the condition are called carriers. DNA tests can show carriers for all types of Niemann-Pick disease if the gene changes have been identified in the first person in a family to have the condition. The gene change can be passed on to children.
  • Magnetic resonance imaging (MRI). An MRI of the brain may show loss of brain cells. But in the early stages of Niemann-Pick disease, an MRI may not show any changes because symptoms usually show up before the loss of brain cells. MRI also can be used to look at the liver and spleen to see if they are large and to measure their size.
  • Eye exam. An eye exam may show changes that could be caused by Niemann-Pick disease, such as problems with eye movements in type C and changes inside the eyes in types A and B.
  • Prenatal testing. Ultrasound during pregnancy can show the large liver and spleen caused by Niemann-Pick disease type C. The liver and spleen also may be large in type A, but rarely in type B. Taking a sample of amniotic fluid from around the baby in the womb or taking a sample of tissue from the placenta may be done to diagnose Niemann-Pick disease.

Genetic testing and counseling for families with a child with Niemann-Pick disease can give information about risks and family planning options.


No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms.


For Niemann-Pick disease type B, olipudase alfa-rpcp (Xenpozyme) is an enzyme replacement for missing or low levels of the sphingomyelinase enzyme. This enzyme replacement may help with lung problems and breathing and lessen the size of the liver and spleen. The medicine also may help height growth in children. It does not help with nerve-related symptoms.

Olipudase alfa-rpcp is given through a vein every two weeks.

For people with Niemann-Pick disease type C who have mild to moderate nerve symptoms, a drug called miglustat may be an option. Miglustat is approved for neurological symptoms of Niemann-Pick disease type C in many countries but is not approved by the U.S. Food and Drug Administration for this use in the United States.

Miglustat is a pill that's taken 1 to 3 times a day. Miglustat may slow the worsening of nerve symptoms such as problems with hearing, swallowing and walking. It also may help slow changes in mental health and learning and memory.

Discuss medicines, including possible side effects, with your doctor or other healthcare professional.

Supportive therapies

Therapies for all types of Niemann-Pick disease depend on symptoms and may include:

  • Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing.
  • Nutrition therapy. This includes special foods that can be added to the diet when swallowing becomes difficult.
  • Oxygen therapy. This can help if the lungs are affected and problems with breathing happen.
  • Treatment of symptoms. Treatments can help with infections, seizures, muscle movements that can't be controlled and sleep problems.

People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Coping and support

If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it's not possible to predict how health and development will change over time.

You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it's time to plan end-of life care.

You may find it helpful to connect with others who are living with Niemann-Pick disease. Depending on your needs, ask for information on organizations that support parents who have children with physical conditions that limit their abilities or who have lost children to such conditions.

Being part of clinical trials may help in the search for effective treatments.

Preparing for your appointment

Signs of Niemann-Pick disease may be noticed before birth. Or you may first share your concerns with a healthcare professional. After an exam, you may be referred to one or more specialists for testing and treatment.

You may want to ask a trusted family member or friend to join you for the appointment. Take someone along who can offer emotional support and can help you remember all of the information.

Here's some information to help you get ready for your first appointment.

What you can do

Before your appointment, make a list of:

  • Any symptoms and how long you've noticed them.
  • Your family's key medical information, including other health conditions.
  • All medicines, vitamins, herbs and other supplements you use, and the doses.
  • Information about your family history, including whether anyone else in your family has Niemann-Pick disease.
  • Questions you want to ask your healthcare professional.

Questions to ask may include:

  • What is likely causing these symptoms?
  • Are there any other possible causes for these symptoms?
  • What kinds of tests are needed to make a diagnosis?
  • Should I see a specialist?

Questions to ask if you're referred to a specialist include:

  • Is this Niemann-Pick disease?
  • What are the treatment options for this condition?
  • What treatments do you suggest?
  • What are the possible complications of this condition?
  • Are regular healthcare appointments needed? How often?
  • Are my other children or family members at higher risk of this condition?
  • Should family members be tested for the gene changes that can cause this condition?
  • What other specialists do you suggest seeing?
  • Are there any clinical trials that might be helpful for this condition?
  • What suggestions do you have for coping with this condition?
  • How can I find other families who are living with Niemann-Pick disease?
  • Are there brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Questions from your healthcare professional may include:

  • What are your or your child's symptoms?
  • When did you first notice these symptoms?
  • Have the symptoms changed over time?
  • Does your child's development seem delayed compared with that of other children who are the same age?
  • Are there things that your child used to be able to do but can no longer do?
  • Have any blood relatives — such as a parent or sibling — been diagnosed with Niemann-Pick disease or had symptoms without ever being diagnosed?

Be ready to answer questions so you have time to discuss what's most important to you.

Jan. 30, 2024
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  5. Pfrieger FW. The Niemann-Pick type diseases — A synopsis of inborn errors in sphingolipid and cholesterol metabolism. Progress in Lipid Research. 2023; doi:10.1016/j.plipres.2023.101225.
  6. Berry-Kravis E. Niemann-Pick disease, type C: Diagnosis, management and disease-targeted therapies in development. Seminars in Pediatric Neurology. 2021; doi:10.1016/j.spen.2021.100879.
  7. Bremova-Ertl T, et al. Current advances in therapy for Niemann-Pick disease: Progress and pitfalls. Expert Opinion on Pharmacotherapy. 2023; doi:10.1080/14656566.2023.2215386.
  8. Xenpozyme (prescribing information). Genzyme Corporation; 2023. https://www.xenpozyme.com/. Accessed Nov. 13, 2023.
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