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Inherited platelet function disorders. Diagnostic approach and management

Paolo Gresele1, Emanuela Falcinelli, Loredana Bury

  • 1Paolo Gresele, MD, PhD, Division of Internal and Cardiovascular Medicine Department of Medicine, University of Perugia, Via E. dal Pozzo, 06126 Perugia, Italy, Tel. +39/07 55 78 39 89, Fax +39/07 55 71 60 83,

Hamostaseologie
|August 4, 2016
PubMed

Insights

Diagnosing inherited platelet function disorders (IPFDs) requires a structured approach. This review details diagnostic methods, management strategies, and bleeding risks for these rare bleeding conditions.

Area of Science:

  • Hematology
  • Clinical diagnostics
  • Genetics

Background:

  • Inherited platelet function disorders (IPFDs) are a significant cause of congenital bleeding disorders.
  • These conditions are often poorly understood and challenging to diagnose accurately.
  • A standardized diagnostic pathway is essential for effective management.

Purpose of the Study:

  • To outline a rational diagnostic strategy for IPFDs.
  • To review current approaches for managing bleeding in patients with IPFDs.
  • To summarize data on bleeding risks during invasive procedures.

Main Methods:

  • Discusses a diagnostic approach integrating platelet phenotyping and genotyping.
  • Reviews literature on bleeding management options for IPFDs.
  • Analyzes existing studies on procedural bleeding risks and treatments.

Main Results:

  • A systematic diagnostic sequence aids in identifying various IPFDs.
  • Phenotyping and genotyping offer comprehensive diagnostic capabilities.
  • Evidence on bleeding risk and management for invasive procedures is limited but informative.

Conclusions:

  • A stepwise diagnostic approach is crucial for diagnosing IPFDs.
  • Integrated phenotyping and genotyping improve diagnostic accuracy.
  • Further research is needed to fully characterize bleeding risks and optimize management strategies.

Keywords:
Bleedingdiagnostic algorithminherited platelet function disordersprophylaxis and Treatment

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