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Rare bleeding disorders: diagnosis and treatment

Roberta Palla, Flora Peyvandi and Amy D. Shapiro

Abstract

Despite the worldwide prevalence of rare bleeding disorders (RBDs), knowledge of these conditions and their management is suboptimal; healthcare 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 rare bleeding disorders. 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 phenotype including bleeding severity to improve the diagnosis and the therapeutic approach. This review focuses on the latest advances in our understanding, diagnosis and treatment of rare bleeding disorders.

  • Submitted August 1, 2014.
  • Accepted September 15, 2014.