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Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation

Paolo Gresele1, Loredana Bury1, Emanuela Falcinelli1

  • 1Division of Internal and Cardiovascular Medicine, Department of Medicine, University of Perugia, Perugia, Italy.

Seminars in Thrombosis and Hemostasis
|March 11, 2016
PubMed

Insights

Diagnosing inherited platelet function disorders (IPFDs) requires a stepwise approach. A combination of clinical evaluation and laboratory tests, including aggregometry and flow cytometry, aids in characterizing these bleeding disorders.

Area of Science:

  • Hematology
  • Clinical Pathology
  • Molecular Diagnostics

Background:

  • Inherited platelet function disorders (IPFDs) present with mucocutaneous bleeding and are challenging to diagnose due to their diverse nature and complex platelet activation pathways.
  • Current diagnostic methods lack standardization, complicating accurate identification of IPFDs.

Purpose of the Study:

  • To outline a rational, stepwise diagnostic algorithm for inherited platelet function disorders.
  • To emphasize the importance of integrating clinical assessment with laboratory evaluations for IPFD diagnosis.

Main Methods:

  • A tiered laboratory testing strategy, progressing from simple to complex assays.
  • Utilizing tests such as platelet count, peripheral blood smear analysis, light transmission aggregometry, platelet granule analysis, and glycoprotein expression via flow cytometry.
  • Incorporating advanced techniques like next-generation sequencing for genetic analysis.

Main Results:

  • A significant proportion of IPFDs can be initially diagnosed at non-specialized centers using basic laboratory tests.
  • A structured panel of tests enables effective phenotypic characterization of most IPFDs.
  • Complex genetic testing, while advancing, still relies on initial clinical and phenotypic data.

Conclusions:

  • A systematic diagnostic algorithm combining clinical data and a stepwise laboratory approach is essential for diagnosing IPFDs.
  • While genetic testing is evolving, phenotypic characterization remains crucial for current IPFD diagnosis.
  • Standardized assays and a rational approach improve the diagnostic yield for patients with suspected IPFDs.

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