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Diagnosing Niemann-Pick type C disease

Diagnosing Niemann-Pick type C disease (NP-C) is not straightforward and the highly varied pattern of symptoms means it is often misdiagnosed or goes undetected.1  

A Patient and Healthcare Professional Survey conducted amongst patients and their families or carers highlighted that lack of diagnosis or misdiagnosis of NP-C is a great burden to all involved.2

  • The healthcare professionals interviewed felt that early diagnosis halts the ‘carousel’ of specialists and ends the insecurity and frustration of not knowing the cause of the problem.
  • For some families, it opens the door to a support network and ends the feeling of isolation.
  • From a clinical perspective, the value of early diagnosis is particularly important with the availability of a disease-specific treatment that can potentially slow or stabilize disease progression.
  • It provides the healthcare professional with an opportunity to advise and educate the family about NP-C and treatment, provide access to social and psychological support and also facilitate earlier genetic counseling.


Guidelines for the management and diagnosis of NP-C

In 2009, an NP-C Guidelines Working Group was established with the specific aim of developing consensus guidelines for the clinical management of NP-C in children and adults. The first international guidelines for the clinical management of NP-C were published in 2009 and addressed an important gap in published literature.1

A comprehensive review of these guidelines took place in 2011 in response to the significant increase in published data regarding the epidemiology, detection/diagnosis and treatment of NP-C and revised guidelines were published in 2012.3 As well as including the above new data, clinical experience with both symptomatic and disease-specific therapies and information for monitoring disease progression and response to therapy are now included.




  1. Wraith E, Baumgartner M, Bembi B et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009;98:152–165.
  2. Klünemann H, Wraith E, Wijburg F. Niemann-Pick Type C Disease – Report on Results from the Niemann-Pick Type C Patient and Healthcare Professional Survey Eur Neurol Rev 2011;6(1):12–15.
  3. Patterson MC, Hendriksz CJ, Walterfang M, et al, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update Mol Genet Metab 2012. 106(3):330-344.