Abstract
In the last decade, improvements in genetic testing have revolutionized the molecular diagnosis of inherited thrombocytopenias (ITs), increasing the spectrum of knowledge of these rare, complex and heterogeneous disorders. In contrast, the therapeutic management of ITs has not evolved in the same way. Platelet transfusions have been the gold standard treatment for a long time. Thrombopoietin receptor agonists (TPO-RA) were approved for immune thrombocytopenia (ITP) ten years ago and there is evidence for the use of TPO-RA not only in other forms of ITP, but also in ITs. We have reviewed in the literature the existing evidence on the role of TPO-RAs in ITs from 2010 to February 2021. A total of 24 articles have been included, 4 clinical trials, 3 case series and 17 case reports. A total of 126 patients with ITs have received TPO-RA. The main diagnoses were Wiskott–Aldrich syndrome, MYH9-related disorder and ANKRD26-related thrombocytopenia. Most patients were enrolled in clinical trials and were treated for short periods of time with TPO-RA as bridging therapies towards surgical interventions, or other specific approaches, such as hematopoietic stem cell transplantation. Here, we have carried out an updated and comprehensive review about the efficacy and safety of TPO-RA in ITs.
Highlights
Inherited thrombocytopenias (ITs) are a large heterogeneous group of rare platelet disorders characterized by low platelet counts (PC) which, lead to bleeding, and to syndromic and systemic manifestations, and in some cases, they favor a predisposition to malignancy [1]
The results showed that the use of preoperative prohemostatic treatments was associated with a lower bleeding frequency in patients with IPFD but not in ITs
The third case of a patient with a misdiagnosis of immune thrombocytopenia (ITP) was that of a patient with severe macrothrombocytopenia and bleeding, who was treated with romiplostim and developed hemorrhagic shock due to epistaxis
Summary
Inherited thrombocytopenias (ITs) are a large heterogeneous group of rare platelet disorders characterized by low platelet counts (PC) which, lead to bleeding, and to syndromic and systemic manifestations, and in some cases, they favor a predisposition to malignancy [1]. The technique is widely available in research and clinical practice and has been established as the gold standard for identifying the molecular pathology underlying monogenic diseases [2]. These techniques have allowed the identification of up to 40 genes as being causative of ITs [2,4], but despite the recent molecular progress in the diagnosis, in nearly 50% of patients with.
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