Highlights from the SWG
One of the most important advances in the field of inherited thrombocytopenias has been the demonstration that some frequent forms of these diseases expose to the risk of developing further disorders, such as hematological malignancies, medullary aplasia and renal failure. Members of this SWG have made a major contribution to the definition of these predisposing disorders and in 2018 they further expanded knowledge in this field by the identification of a new, form of inherited thrombocytopenia evolving into bone marrow aplasia (Pecci A, et al. EMBO Mol Med. 2018;10:63-75).
Of note, they demonstrated that one thrombopoietin-mimetic drug is highly effective in treating both thrombocytopenia and bone marrow failure. In 2018, they also identified another new inherited thrombocytopenia that, unlike the previous illness, has a benign prognosis (Marconi C, et al. Blood. Epub 2018 Dec 27). This matter has been described in two review articles (Rodeghiero F, et al. J Thromb Haemost. 2018; 16:1700-10, and Balduini A, et al. Eur J Med Genet. 2018; 61:715-22).
Another relevant event involving members of this SWG in 2018 was the decision to prepare, with the support of the EHA, 'Position documents' on 'Mild bleeding disorders'. These diseases are actually difficult to recognize and often remain without a definite diagnosis and, therefore, without appropriate treatment. The members of this working group examined and discussed all the papers on the subject available in the literature and position papers on these topics are in preparation.