Undoubtedly, diagnosis is one of the areas most affected by the lack of sufficient scientific and medical knowledge on the RD field. Focussing on rare haematological diseases (RHD), differences in some core lab test for diagnosis have been observed across MS leading to a late diagnosis or even misdiagnosis, especially for the very rare diseases.
In the context of ERN-EuroBloodNet, a collaboration was established with UKNEQAS for a) the analysis of the state of the art of External Quality Assessment for the RHDs diagnosis and b) promote the establishment of schemes for RHD where gaps are identified.
Pyruvate Kinase deficiency (PKD) is an example of a chronic RHD in which diagnosis can be delayed for years, can be misdiagnosis or even been labelled as haemolytic anaemia of unknown origin forever. Based on reference labs experience on PK activity results from non-expert centres/labs, some pitfalls on PK diagnosis have been observed:
In addition, there is a number of cases misdiagnosed, the main causes are:
In effort to tackle this gap the External Quality Assessment (EQAs) for PKD is under development in a collaboration between ERN-EuroBloodNet and the UK-External Quality Assessment Service. Currently, it is on pilot phase involving 9 laboratories from 4 countries.