Hereditary Thrombocytopenias: Differential Diagnosis and Case Report

Overview

Hereditary thrombocytopenias are a heterogeneous group of extremely rare diseases characterized by a reducednumber of blood platelets and by bleeding tendency of variable severity. Some of these diseases are exclusive toplatelets, while in others the pathology extends to other cell types. Although rare, hereditary thrombocytopeniasshould be considered in the diagnosis. Hereditary thrombocytopenias have been classified into three groups dependingon platelet volume. Hereditary thrombocytopenias with giant platelets form one of these groups. About fourteenclinical entities of inherited giant platelet disorders have been described. Bernard-Soulier syndrome, grey plateletsyndrome andMay-Hegglin anomaly are the most common giant platelet thrombocytopenias.May-Hegglin anomalyis condition characterized by the triad of thrombocytopenia, giant platelets, and pale-blue inclusions in leukocytes.May-Hegglin anomaly has an autosomal-dominant mode of inheritance.We described clinical and laboratory featuresof three adult women from one family with recently diagnosedMay-Hegglin anomaly. Described cases are probablythe first observed cases of May-Hegglin anomaly in the Czech lands.

Key words:
inherited thrombocytopenias, May-Hegglin anomaly, platelets.