Phenotyping bleeding

Curr Opin Hematol. 2012 Sep;19(5):406-12. doi: 10.1097/MOH.0b013e32835673ab.

Abstract

Purpose of review: Although recorded evidence of phenotyping bleeding disorders extends back two millennia, standardization of phenotyping has only begun in the past half century. This was spurred by the need for greater precision in diagnosing disorders in order to select proper laboratory tests and treatment, and the realization that the bleeding history provides prognostic information about the future risk of bleeding with surgery or invasive procedures.

Recent findings: New bleeding assessment tools (BATs) have been developed, firstly, to evaluate the relative bleeding risks associated with new anticoagulants and antiplatelet agents, secondly, to assess the efficacy of new thrombopoiesis stimulating agents in preventing hemorrhage in patients with immune thrombocytopenia, and finally, to assess complex gene-gene and gene-environment interactions. New web-based systems allow many researchers to collaborate by sharing the same electronic phenotyping infrastructure. Major issues of validation remain, but at present the data indicate that the new BATs have relatively high negative predictive value for excluding a significant bleeding disorder, but disappointingly low positive predictive values.

Summary: New instruments to phenotype bleeding have been developed to address a number of different important clinical and research goals. The improved standardization and opportunities for collaborative studies hold promise for maximizing diagnostic, prognostic, and scientific information.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Administration, Oral
  • Anticoagulants / administration & dosage
  • Gene-Environment Interaction
  • Genotype
  • Hemorrhagic Disorders / diagnosis*
  • Hemorrhagic Disorders / drug therapy
  • Hemorrhagic Disorders / genetics
  • Humans
  • Phenotype
  • Predictive Value of Tests

Substances

  • Anticoagulants