Treatment of Inherited Thrombocytopenias

Overview

Journal Haematologica

Specialty Hematology

Date 2022 Jun 1

PMID 35642487

Authors

Carlo L Balduini

Affiliations

Soon will be listed here.

Abstract

The new techniques of genetic analysis have made it possible to identify many new forms of inherited thrombocytopenias (IT) and study large series of patients. In recent years, this has changed the view of IT, highlighting the fact that, in contrast to previous belief, most patients have a modest bleeding diathesis. On the other hand, it has become evident that some of the mutations responsible for platelet deficiency predispose the patient to serious, potentially lifethreatening diseases. Today's vision of IT is, therefore, very different from that of the past and the therapeutic approach must take these changes into account while also making use of the new therapies that have become available in the meantime. This review, the first devoted entirely to IT therapy, discusses how to prevent bleeding in those patients who are exposed to this risk, how to treat it if it occurs, and how to manage the serious illnesses to which patients with IT may be predisposed.

Citing Articles

Shen K, Chen T, Xiao M Res Pract Thromb Haemost. 2024; 8(6):102552.

PMID: 39309229 PMC: 11415342. DOI: 10.1016/j.rpth.2024.102552.

Interleukins in Platelet Biology: Unraveling the Complex Regulatory Network.

Huang M, Wang L, Zhang Q, Zhou L, Liao R, Wu A Pharmaceuticals (Basel). 2024; 17(1).

PMID: 38256942 PMC: 10820339. DOI: 10.3390/ph17010109.

Reference guide for the diagnosis of adult primary immune thrombocytopenia, 2023 edition.

Kashiwagi H, Kuwana M, Murata M, Shimada N, Takafuta T, Yamanouchi J Int J Hematol. 2023; 119(1):1-13.

PMID: 37957517 PMC: 10770234. DOI: 10.1007/s12185-023-03672-1.

Introduction to a review series on the treatment of thrombocytopenic disorders: something old, something new.

Rodeghiero F Haematologica. 2022; 107(6):1239-1242.

PMID: 35642484 PMC: 9152951. DOI: 10.3324/haematol.2022.280920.

References

Germeshausen M, Ancliff P, Estrada J, Metzler M, Ponstingl E, Rutschle H . MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. Blood Adv. 2018; 2(6):586-596. PMC: 5873238. DOI: 10.1182/bloodadvances.2018016501. View

Aiuti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese M, Baricordi C . Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science. 2013; 341(6148):1233151. PMC: 4375961. DOI: 10.1126/science.1233151. View

Favier R, de Carne C, Elefant E, Lapusneanu R, Gkalea V, Rigouzzo A . Eltrombopag to Treat Thrombocytopenia During Last Month of Pregnancy in a Woman With MYH9-Related Disease: A Case Report. A A Pract. 2017; 10(1):10-12. DOI: 10.1213/XAA.0000000000000621. View

Pecci A, Granata A, Fiore C, Balduini C . Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant. 2008; 23(8):2690-2. DOI: 10.1093/ndt/gfn277. View

Nurden A, Nurden P . Inherited thrombocytopenias: history, advances and perspectives. Haematologica. 2020; 105(8):2004-2019. PMC: 7395261. DOI: 10.3324/haematol.2019.233197. View

Gerrits A, Leven E, Frelinger 3rd A, Brigstocke S, Berny-Lang M, Mitchell W . Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood. 2015; 126(11):1367-78. PMC: 4729539. DOI: 10.1182/blood-2014-09-602573. View

Rieger C, Rank A, Fiegl M, Tischer J, Schiel X, Ostermann H . Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome. Thromb Haemost. 2006; 95(1):190-1. View

Noris P, Schlegel N, Klersy C, Heller P, Civaschi E, Pujol-Moix N . Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Haematologica. 2014; 99(8):1387-94. PMC: 4116839. DOI: 10.3324/haematol.2014.105924. View

Zaninetti C, Barozzi S, Bozzi V, Gresele P, Balduini C, Pecci A . Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia. Am J Hematol. 2019; 94(8):E199-E201. DOI: 10.1002/ajh.25500. View

10.

Magnani A, Semeraro M, Adam F, Booth C, Dupre L, Morris E . Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome. Nat Med. 2022; 28(1):71-80. PMC: 8799465. DOI: 10.1038/s41591-021-01641-x. View

11.

Coppola A, De Simone C, Palmieri N, Coppola D, Lanza F, Ruosi C . Recombinant activated factor VII for hemostatic cover of orthopedic interventions in a girl with thrombocytopenia with absent radii syndrome. Blood Coagul Fibrinolysis. 2007; 18(2):199-201. DOI: 10.1097/MBC.0b013e3280147fd8. View

12.

Kong Z, Qin P, Xiao S, Zhou H, Li H, Yang R . A novel recombinant human thrombopoietin therapy for the management of immune thrombocytopenia in pregnancy. Blood. 2017; 130(9):1097-1103. DOI: 10.1182/blood-2017-01-761262. View

13.

Franchini M, Mannucci P . The never ending success story of tranexamic acid in acquired bleeding. Haematologica. 2020; 105(5):1201-1205. PMC: 7193503. DOI: 10.3324/haematol.2020.250720. View

14.

Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J . Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in . Blood. 2017; 130(7):875-880. PMC: 5561901. DOI: 10.1182/blood-2017-02-768036. View

15.

Pecci A, Balduini C . Inherited thrombocytopenias: an updated guide for clinicians. Blood Rev. 2020; 48:100784. DOI: 10.1016/j.blre.2020.100784. View

16.

Franchini M, Mengoli C, Marietta M, Marano G, Vaglio S, Pupella S . Safety of intravenous tranexamic acid in patients undergoing majororthopaedic surgery: a meta-analysis of randomised controlled trials. Blood Transfus. 2018; 16(1):36-43. PMC: 5770313. DOI: 10.2450//2017.0219-17. View

17.

Hacihanefioglu A, Tarkun P, Gonullu E . Use of recombinant factor VIIa in the management and prophylaxis of bleeding episodes in two patients with Bernard-Soulier syndrome. Thromb Res. 2006; 120(3):455-7. DOI: 10.1016/j.thromres.2006.10.018. View

18.

Hacein-Bey Abina S, Gaspar H, Blondeau J, Caccavelli L, Charrier S, Buckland K . Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. JAMA. 2015; 313(15):1550-63. PMC: 4942841. DOI: 10.1001/jama.2015.3253. View

19.

Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T . Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood. 2010; 116(26):5832-7. DOI: 10.1182/blood-2010-08-304725. View

20.

Lord S, Jimenez J, Kroeger Z, Patrick C, Sanchez-Pena I, Ziga E . A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. Clin Dysmorphol. 2017; 27(1):9-11. DOI: 10.1097/MCD.0000000000000200. View