Eltrombopag use in a patient with Wiskott–Aldrich syndrome

  title={Eltrombopag use in a patient with Wiskott–Aldrich syndrome},
  author={Maria Gabelli and Antonio Marzollo and Lucia Dora Notarangelo and Giuseppe Basso and Maria Caterina Putti},
  journal={Pediatric Blood \& Cancer},
Wiskott–Aldrich syndrome (WAS) is an inherited X‐linked disorder characterized by microthrombocytopenia, immunodeficiency, and eczema. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice. Eltrombopag, a thrombopoietin receptor agonist, may be useful to prevent bleeding while awaiting HSCT. We present a case of a male with WAS, profound thrombocytopenia, and bleeding diathesis successfully managed with eltrombopag before HSCT. Eltrombopag was given for 32 weeks obtaining a… 
Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome
  • F. Candotti
  • Medicine, Biology
    Journal of Clinical Immunology
  • 2017
The Wiskott-Aldrich syndrome has a wide clinical spectrum ranging from mild, isolated thrombocytopenia to full-blown presentation that can be complicated by life-threatening hemorrhages, immunodeficiency, atopy, autoimmunity, and cancer.
Efficacy of romiplostim in treatment of thrombocytopenia in children with Wiskott–Aldrich syndrome
It is demonstrated that romiplostim can be used to increase platelet counts and reduce the risks of life‐threatening bleeding in WAS patients awaiting haematopoietic stem cell transplantation or forgoing the procedure for various reasons.
Eltrombopag for the Treatment of Severe Inherited Thrombocytopenia
A patient presenting with severe syndromic inherited thrombocytopenia manifesting as spontaneous mucocutaneous bleeds, requiring frequent platelet transfusions, was successfully treated with high-dose eltrombopag at 150 mg/day, an orally available non-peptide throm bopoietin receptor agonist.
Clinical Features, Cancer Biology, Transplant Approach and Other Integrated Management Strategies for Wiskott–Aldrich Syndrome
Wiskott–Aldrich syndrome is a rare X-linked recessive inborn error of immunity first described in 1937, characterized by the triad of thrombocytopenia with small platelets, recurrent infections due to combined immunodeficiency, and eczema.
Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia
Two patients with Wiskott-Aldrich syndrome/X-linked thrombocytopenia had severe clinical phenotypes compatible with classic WAS and developed lethal outcomes with intracranial hemorrhage and one patient with XLT developed pineoblastoma.
Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial
In conclusion, eltrombopag was safe and effective in increasing platelet count and reducing bleeding symptoms in different forms of inherited thrombocytopenia.
Platelets in Wiskott‐Aldrich syndrome: Victims or executioners?
An overview of the state‐of‐the art platelets as immune modulators at the interface between hemostasis and the immune system, which suggests that these cells may have a direct role in the pathogenesis of immune dysregulation in WAS.
Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia
An updated and comprehensive review about the efficacy and safety of TPO-RA in ITs is carried out.
Thrombopoietin receptor agonists in hereditary thrombocytopenias
It is believed that TPO‐RAs will play a major role in the treatment of HTPs, particularly myosin heavy chain 9‐related disease, Wiskott–Aldrich syndrome, X‐linked thrombocytopenia, and THPO mutations, and their use in patients with these disorders is discussed.


Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.
This study demonstrated the feasibility of the use of gene therapy in patients with Wiskott-Aldrich syndrome and demonstrated improvement in immunological and hematological characteristics and evidence of safety through vector integration analysis.
Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome.
It is suggested that HSCT is a curative strategy in this subgroup of patients with early-onset, life-threatening manifestations and should be performed as early in life as possible, even when a fully matched donor is lacking.
Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia.
It is concluded that eltrombopag has beneficial effects on platelet count but not platelet activation in the majority of WAS/XLT patients, and that the reduced plateletactivation observed in WAS/ XLT is primarily due to the microthrombocytopenia.
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.
Patients with a severe thrombocytopenia induced by MYH9 mutations with a nonpeptide thromBopoietin receptor agonist, eltrombopag were treated to evaluate whether stimulating megakaryopoiesis could increase platelet count in these conditions.
Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation.
The most striking finding was the observation of cGVHD-independent autoimmunity in 20% of patients strongly associated with a mixed/split chimerism status, suggesting that residual-host lymphocytes can mediate autoimmune disease despite the coexistence of donor lymphocytes.
Successful use of eltrombopag for surgical preparation in a patient with ANKRD26-related thrombocytopenia
Inherited thrombocytopenias are a heterogenous group of rare diseases characterized by decreased platelet count and increased risk of bleeding that ranges from life-threatening to very mild [1]. Pl...
Intravenous immunoglobulin, splenectomy, and antibiotic prophylaxis in Wiskott-Aldrich syndrome.
Persistence of infection, bleeding, and vasculitic and allergic symptoms in a significant minority and the risk of development of lymphoma, however, suggest that bone marrow transplantation may be indicated if an HLA identical donor is available.
Outcomes following hematopoietic cell transplantation for Wiskott–Aldrich syndrome
HLA-identical sibling donor transplantation remains the treatment of choice for Wiskott–Aldrich Syndrome (WAS) despite increased utilization of alternative donor sources, and the extent of HLA mismatch did not significantly affect the incidence of acute GV HD, chronic GVHD or survival.