Prevalence of Niemann-Pick type C disease

There is very little epidemiological data on Niemann-Pick type C disease (NP-C). In Western Europe, the prevalence of NP-C has been estimated to be 1:150,000 based on diagnoses made over a 15-year period.¹ In Australia, the prevalence has been estimated to be 1:211,000.² Although it is generally considered that NP-C occurs with similar frequency across the world, it has been shown to be more common in some genetic isolates such as the French Arcadian population of Novo Scotia.¹

However, the prevalence of NP-C is likely to have been underestimated, particularly in the very young due to the varied clinical presentation and high infant mortality rate.¹ Until now, the absence of reliable biochemical and genetic testing and the diverse pathology has probably also contributed to the under diagnosis of NP-C.¹

References

1. Wraith JE, Imrie J. Understanding Niemann-Pick disease type C and its potential treatment. UK Blackwell Publishing, 2007.
2. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-54.