We have noticed this confusing phenomenon since states in the USA began a newborn screening programme. But this study report tries to estimate the global Predicted Genetic Prevalence (pGP) and comes up with an estimate of 1:23,232, which if applied to the UK, would suggest that there are 2,884 people living with the condition. Currently the UK NHS is aware of little more than 200 cases. Even based on the earlier accepted prevalence of 1 in 40,000, we should be seeing more than 1,500 cases, so there is clearly considerable work to be done to find the true figure and to diagnose all people requiring appropriate support.
Of course, we shouldn’t lose sight of the fact that many people with a genetically confirmed diagnosis of Pompe disease can live long and healthy lives. So, there will be people of all ages, with genetic mutations that do not cause noticeable symptoms, or whose symptoms are simply passed off as the normal ageing process. Until those diagnosed with late-onset Pompe disease through newborn screening are followed for several decades, we won’t be totally sure of how many people should be diagnosed and treated for the condition.
The full report can be read on ScienceDirect here:
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database