Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine

Although no epidemiological study has so far been performed, inherited thrombocytopenias are considered to be very rare based on the number of case reports in the literature. However, diagnosis of these disorders is often difficult and requires competences that are limited to specialized centers. We, therefore, suspect that inherited thrombocytopenias are underreported because their diagnosis is often missed.

The aim of this study was to develop a diagnostic algorithm that utilizes the simplest possible diagnostic tests and that can also be used in centers that are not highly specialized.

The basic features of the diagnostic algorithm (definition and classification of hereditary thrombocytopenias, laboratory tests, sequence of investigations) were discussed by the members of the Italian Gruppo di Studio delle Piastrine during two meetings held in October 2000 and 2001. The sources of information were literature and personal experience. The final proposed diagnostic algorithm was produced by the authors of this paper and approved during a third meeting in May 2002.

A definite diagnosis for patients with hereditary thrombocytopenias serves many purposes. It is essential to define the prognosis of the patients and to identify the best therapeutic approach. It also defines the risk of transmitting the disorder to progeny and, in many cases, allows prenatal diagnosis. Finally, several pieces of evidence indicate that not all the genetic thrombocytopenias have yet been identified. Exclusion of known disorders by accurate investigation is, therefore, the starting point for the discovery of these new illnesses.