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:
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- 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. 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).
- Aster JC, et al. Hematopathology. Philadelphia, Pa.: Saunders Elsevier; 2013. https://www.clinicalkey.com. Accessed Oct. 15, 2013.
- Cruse RP. Overview of Niemann-Pick disease. http://www.uptodate.com/home. Accessed Oct. 16, 2013.
- Lichtman MA, et al. Williams Hematology. 8th ed. New York, N.Y.: The McGraw-Hill Companies; 2010. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=69. Accessed Oct. 16, 2013.
- Niemann-Pick disease overview — Types A, B and C. National Niemann-Pick Disease Foundation. http://www.nnpdf.org/npdisease_01.html. Accessed Oct. 16, 2013.
- Treatment options for Niemann-Pick disease. National Niemann-Pick Disease Foundation. http://www.nnpdf.org/npdisease_06.html. Accessed Oct. 16, 2013.