Innovation in the field of thrombocytopenias: achievements since the beginning of the century and promises for the future

Thrombopoietin receptor agonists in hereditary thrombocytopenias

“…Some HTPs are syndromic disorders in which thrombocytopenia is associated with other congenital defects affecting different organs and tissues. In addition, some forms are characterized by a propensity to develop life‐threatening conditions over time . To date, 33 forms of HTP caused by mutations in 32 different genes have been identified.…”

“…HTPs are rare diseases, and they often show no clear pattern of inheritance, because of recessive transmission or de novo mutations . Because many patients with HTP experience mild or no bleeding symptoms, the low platelet count is often discovered only in adulthood . Thus, the disease cannot be readily identified as hereditary, and, in a considerable proportion of patients, might potentially be misdiagnosed as primary immune thrombocytopenia (ITP) .…”

“…With the advances in techniques for gene sequencing, our understanding of HTPs has rapidly improved in the last 15 years , revealing an unmet therapeutic need. Many of these rare diseases have been discovered recently, are poorly understood, and have not been studied in interventional clinical trials; thus, the best therapeutic options for these patients are not clear.…”

Research at the heart of hematology: thrombocytopenias and platelet function disorders

“…Now, we know more than 30 diseases caused by mutations in different genes, with half of these disorders identified in the last five years (Figure 2). However, nearly 50% of patients with ITs have forms that do not fit the criteria for any known disorder, 12 and identification of these 'new' disorders is required for several reasons. First of all, we recently realized that nearly 50% of patients with known ITs are at risk of because of acquiring additional illnesses during life, such as bone marrow aplasia, kidney failure or hematologic malignancies, which endanger patients' lives much more than thrombocytopenia itself.…”

A dimeric peptide with erythropoiesis-stimulating activity uniquely affects erythropoietin receptor ligation and cell surface expression

“…Inventive efforts to develop TPO mimetic factors as receptor agonists nonetheless have yielded useful anti- thrombocytopenia agents. These are in the form of the dimeric peptide and humanized Ig heavy chain fusion protein romiplostim (Chalmers and Tarantino 2015), and the small molecule MPL dimerizing and activating agent eltrombopag (Pathak, et al 2013) each of which exert clinically important anti-thrombocytopenia activities (Balduini and Noris 2016). …”