Guideline-based diagnosis and management of congenital platelet function disorders: Current insights and future directions

Abstract

Congenital platelet function disorders constitute a heterogeneous group of rare, genetic conditions classified according to the affected platelet component or functionality. Sixty entities have been identified, caused by defects in around seventy-five different genes. Clinical manifestations vary, ranging from asymptomatic to life-threatening. Patients typically present with spontaneous mucocutaneous hemorrhage, but syndromic conditions and malignancy risk are sometimes associated with inherited platelet function disorders. Early and accurate diagnosis, and long-term follow-up of the affected individuals by a multidisciplinary team of experts is crucial. Guidelines on laboratory testing have been developed. The initial approach consists of a comprehensive personal and family history and thorough examination. Diagnostic workup includes complete blood count, peripheral blood smear, light-transmission aggregometry, flow cytometry, electron microscopy, and genetic analysis. Stepwise diagnostic algorithms have been suggested, optimizing the diagnosis and care of patients presenting with clinical symptoms typical for congenital platelet function disorders. Further advancement and wider access to more recent diagnostic technologies are key to providing optimal personalized management and therapy. The future will entail earlier application of genomics, diagnostic tools enhanced by artificial intelligence, international collaborative networks and streamlined diagnostic models.