Severe Thrombocytopenia Due to Bone Marrow Failure in Children With Dyskeratosis Congenita Does Not Respond to Eltrombopag Treatment: Case Series

J Pediatr Hematol Oncol. 2024 Jan 1;46(1):57-62. doi: 10.1097/MPH.0000000000002775. Epub 2023 Oct 27.


Dyskeratosis congenita is a rare inherited disease with classic cutaneous symptoms, sometimes accompanied with more severe extracutaneous manifestations such as bone marrow failure, which can be lethal. Eltrombopag is an orally available thrombopoietin receptor agonist in clinical use for increasing platelet levels in patients with immune thrombocytopenia and aplastic anemia. Here, 3 pediatric patients with dyskeratosis congenita are presented with varying disease severity, in which off-label eltrombopag treatment had no clinical effect on bone marrow failure. This, in addition to the negative results in a previous case report, supports the preclusion of eltrombopag use in dyskeratosis congenita.

MeSH terms

  • Anemia, Aplastic* / complications
  • Anemia, Aplastic* / drug therapy
  • Bone Marrow Failure Disorders
  • Child
  • Dyskeratosis Congenita* / complications
  • Dyskeratosis Congenita* / drug therapy
  • Humans
  • Pancytopenia*
  • Thrombocytopenia* / drug therapy


  • eltrombopag