Abstract
Platelets play a major role in primary hemostasis, where activated platelets form
plugs to stop hemorrhaging in response to vessel injuries. Defects in any step of
the platelet activation process can cause a variety of platelet dysfunction conditions
associated with bleeding. To make an accurate diagnosis, constitutional platelet dysfunction
(CPDF) should be considered once von Willebrand disease and drug intake are ruled
out. CPDF may be associated with thrombocytopenia or a genetic syndrome. CPDF diagnosis
is complex, as no single test enables the analysis of all aspects of platelet function.
Furthermore, the available tests lack standardization, and repeat tests must be performed
in specialized laboratories especially for mild and moderate forms of the disease.
In this review, we provide an overview of the laboratory tests used to diagnose CPDF,
with a focus on light transmission platelet aggregation (LTA), flow cytometry (FC),
and granules assessment. Global tests, mainly represented by LTA, are often initially
performed to investigate the consequences of platelet activation on platelet aggregation
in a single step. Global test results should be confirmed by additional analytical
tests. FC represents an accurate, simple, and reliable test to analyze abnormalities
in platelet receptors, and granule content and release. This technique may also be
used to investigate platelet function by comparing resting- and activated-state platelet
populations. Assessment of granule content and release also requires additional specialized
analytical tests. High-throughput sequencing has become increasingly useful to diagnose
CPDF. Advanced tests or external research laboratory techniques may also be beneficial
in some cases.
Keywords
constitutional platelet dysfunction - diagnosis - light transmission aggregometry
- granule deficiency - flow cytometry
