Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia.
Different from haemoglobinopathy patients, more prevalent and concentrated by ethnical and/or geographical origin, patients affected by PKD are scarcer and highly distributed. In addition, PKD diagnosis is commonly delay due to lack of adequate testing or misinterpretation of PK enzyme assay, leading to an underestimation of the real number of patients. Up to date, no reliable data is available on its prevalence and incidence.
A global PKD International Working Group was created in 2016 involving 24 experts from 20 Centers of Expertise, aiming to analyse the existing gaps in the PKD diagnosis. Based on the conduction of a survey on key conflictive points on the diagnosis of PKD and subsequent discussions among members Expert Centers from Europe, USA, and Asia directly involved in diagnosis, a consensous was reached on clinical and technical aspects of the diagnosis of PKD.
A high number of ERN-EuroBloodNet experts and members representatives participated in this consensous, as Paola Bianchi, Elisa Fermo, Wilma Barcellini, Tabita Maia, Maria del Mar Mañú Pereira, Eduard van Beers, and Richard van Wijk.
As final result, "Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency" has recently being published by the American Journal of Hematology under the endorsement of ERN-EuroBloodNet. Recommendations might be helpful for other Centers and healthcare professionals to deliver timely and appropriate diagnosis and to increase awareness in PKD.