Diagnosis of Niemann-Pick disease begins with a thorough physical exam, which can show an early warning sign such as an enlarged liver or spleen. Your doctor will also take a detailed medical history and discuss symptoms and family health 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 or skin sample (biopsy), experts measure how much sphingomyelinase 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.
Other tests also may be done, such as:
- Magnetic resonance imaging (MRI). An MRI of the brain may show loss of brain cells. But 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 signs that may be an indication of Niemann-Pick disease, such as eye movement difficulties.
- Genetic testing. DNA testing of a blood sample may show the specific abnormal genes that cause Niemann-Pick types A, B and C. 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).
- Prenatal testing. Ultrasound can detect the enlarged liver and spleen that's caused by type C. And amniocentesis or chorionic villus sampling may be used to confirm a diagnosis of Niemann-Pick.
No cure exists for Niemann-Pick disease. No effective treatment is available to people with type A or B. For people with mild to moderate type C, a drug called miglustat (Zavesca) may be an option. An international study of 92 people with type C Niemann-Pick showed improved neurological symptoms after taking miglustat regularly for an average of two years.
Physical therapy is an important part of treatment to help maintain mobility as long as possible. People with Niemann-Pick disease need to see their doctors regularly, because the disease progresses and symptoms worsen.
Niemann-Pick care at Mayo Clinic
Jan. 25, 2018
- Patterson MC. Overview of Niemann-Pick disease. http://www.uptodate.com/home. Accessed Oct. 31, 2016.
- Patterson MC, et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study. Orphanet Journal of Rare Diseases. 2015;10:65. http://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0284-z. Accessed Oct. 31, 2016.
- Niemann-Pick disease. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inheriteddisordersofmetabolism/Niemannpickdisease. Accessed Oct. 31, 2016.