Wolfgang Miesbach: From genes to mechanisms – An Outstanding Update on Inherited Platelet Disorders
Wolfgang Miesbach, Professor of Medicine at Frankfurt University Hospital, shared a post on LinkedIn:
“From genes to mechanisms.
An outstanding update on inherited platelet disorders (IPD) by Paolo Gresele and Loredana Bury at the EHA-SWG Scientific Meeting on Bleeding and Platelet Disorders in Florence.
Inherited platelet disorders were presented as heterogeneous group of bleeding disorders, encompassing both inherited thrombocytopenias (IPND) and inherited platelet function disorders (IPFD), driven by defects in megakaryocyte maturation, pro‑platelet formation, signalling pathways, granule biology, membrane receptors, transcription factors and the cytoskeleton.
The speakers offered a very practical clinical classification, distinguishing isolated thrombocytopenia, thrombocytopenia with additional congenital anomalies and predisposition syndromes, and highlighted syndromic forms with multi‑organ involvement as well as the broad spectrum of platelet function defects and their impact on bleeding.
Data from large cohorts, including surgical series, clearly show that patients with IPD have a significantly increased risk of peri‑procedural bleeding – especially in cardiovascular, urologic, gynecologic, ENT and plastic surgery – and that women are particularly affected by heavy menstrual and obstetric bleeding, with major consequences for quality of life.
Structured bleeding assessment, standardized platelet function testing and modern genetic diagnostics are essential to stratify bleeding risk, recognize syndromic forms early, guide peri‑operative management and enable informed genetic counselling – laying the groundwork for more individualized, mechanism‑based therapies in the future.”
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