SPOTLIGHT | RAIN Endorses the First International Guidelines for Pyruvate Kinase Deficiency
Rare blood disorders have long presented challenges to the medical community, often because of a lack of comprehensive care guidelines. This has changed for one such condition—pyruvate kinase deficiency (PKD)—with the debut of the first-ever international guidelines, now proudly endorsed by the Rare Anaemias International Network (RAIN).
Pyruvate kinase deficiency (PKD) is the most common cause of chronic congenital non-spherocytic haemolytic anaemia, impacting between one in 100,000 to one in 300,000 individuals globally. Those with PKD suffer from chronic haemolytic anaemia that can considerably weaken their health, reduce the quality of life, and increase mortality risks.
Published in Lancet Hematology, the landmark ‘International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency’ aim to instill a comprehensive, evidence-based approach to PKD patient care.
A diverse and specialized panel was assembled—29 experts, including adult and paediatric haematologists, geneticists, laboratory specialists, nurses, a methodologist, patients with PKD, and caregivers representing ten countries—ensuring wide-ranging perspectives were considered. The expert panel agreed on 31 total recommendations across five critical topic areas:
- diagnosis and genetics;
- monitoring of chronic complications;
- management strategies for anaemia;
- advanced targeted therapies; and
- special demographic considerations
These guidelines represent the culmination of meticulous research and an international consensus among experts. They serve as a reliable guidepost for healthcare practitioners steering through PKD treatment protocols, ushering in an era of uniform care standards. Clinicians now have easy access to evidence-based best practices, leading to better management of pyruvate kinase deficiency. This is expected to result in improved health outcomes and significantly enhance the quality of life for patients.
We take great pride in highlighting this remarkable progress that is making a real difference in patient care.
View the Guidelines
