Laboratory diagnostics of inherited platelet disorders

Abstract

Inherited platelet disorders (IPDs) are the general and common denomination of a broad number of different rare and congenital pathologies affecting platelets. Even if these disorders are characterized by widely heterogeneous clinical presentations, all of them are commonly present as defects in hemostasis. Platelet number and/or function are affected by a wide spectrum of severity. IPDs might be associated with defects in bone marrow megakaryocytopoiesis and, rarely, with somatic defects. Although in the last few years new insights in the genetic bases and pathophysiology of IPDs have greatly improved our knowledge of these disorders, much effort still needs to be made in the field of laboratory diagnosis. This review discusses the laboratory approach for the differential diagnosis of the most common IPDs, suggesting a common multistep flowchart model which starts from the simpler test (platelet count) ending with the more selective and sophisticated analyses.

Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH

“…The search was expanded through review of the references from extracted articles and 14 relevant publications were identified .…”

Aging Hemostasis: Changes to Laboratory Markers of Hemostasis As We Age—A Narrative Review

“…Prolongations in closure time (CT) may therefore reflect thrombocytopenia or platelet dysfunction. 10,113 The PFA-100 CT was originally reported as not correlating with age, 114 and no significant differences were recorded in mean CTs between adults and children. 115 However, older males (i.e., > 55 years) have been reported to have a shorter CT than that of younger males, 114 and older Koreans (i.e., > 40 years) have been reported to have a shorter CT than that of younger Koreans.…”

Platelet preparation for function testing in the laboratory and clinic: Historical and practical aspects

“…Given the complexity of some of the assays, these explorations are carried out in most cases in specialized clinical hemostasis laboratories. Several experts, including the Subcommittee on Platelet Physiology of the ISTH, have recently proposed a prioritization of the tests required to accurately diagnose a platelet function defect . These experts recommend as the first line of approach platelet aggregation tests in cPRP together with quantification of the main platelet GPs by flow cytometry and some functional assays such as determination of the activation state of αIIbβ3.…”