title: Rare bleeding disorders: diagnosis and treatment.
abstract: Despite the worldwide prevalence of rare bleeding disorders (RBDs), knowledge of these conditions and their management is suboptimal; health care professionals often have little diagnostic and treatment experience with variable access to diagnostic modalities required for accurate identification. Therefore, patients often experience morbidity and mortality due to delayed diagnosis. As RBDs represent a small potential commercial market, few, if any, specific therapies exist for these conditions. As a result, affected individuals commonly face delayed diagnosis, incomplete laboratory evaluation, and limited treatment options. Standardization and customization of coagulation assays, full genome sequencing, and global clotting assays will significantly improve diagnosis of patients with RBDs. In addition, new therapeutic modalities, both recombinant and plasma derived, are emerging, at least in developed countries. Registries and clinical trials have demonstrated decreased bleeding and improved outcomes when patients are appropriately diagnosed and properly treated. Expansion and harmonization of international registries has been initiated to correlate genotype, laboratory, and clinical phenotypes including bleeding severity to improve the diagnosis and therapeutic approach. This review focuses on the latest advances in our understanding, diagnosis, and treatment of RBDs.
authors.affiliation: A. Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, and Luigi Villa Foundation, Milan, Italy;
authors.forename: Roberta
authors.identifier: http://orcid.org/0000-0001-8837-2367
authors.initials: R
authors.lastname: Palla
authors.affiliation: A. Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, and Luigi Villa Foundation, Milan, Italy;
authors.forename: Flora
authors.initials: F
authors.lastname: Peyvandi
authors.affiliation: Indiana Hemophilia and Thrombosis Center, Indianapolis, IN; and Pediatrics, Michigan State University, East Lansing, MI.
authors.forename: Amy D
authors.initials: AD
authors.lastname: Shapiro
mesh_terms: D019411:Clinical Laboratory Techniques / Q000379:methods; D006403:Hematologic Tests; D006474:Hemorrhagic Disorders / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006487:Hemostasis; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy