Unique association of myeloid neoplasm with eosinophilia and abnormalities of PDGFRA with TTP

W V Med J. 2013 Mar-Apr;109(2):6-9.

Abstract

Myeloid neoplasm with eosinophilia and abnormalities of Alpha type platelet derived growth factor receptor (PDGFRA) is a type of hypereosinophilic syndrome characterized by multiorgan damage due to eosinophilia. Its association with thrombotic thrombocytopenic purpura (TTP) has rarely been reported. We describe here a case report of a female in whom TTP presented as one of the earlier manifestations of myeloproliferative HES with rearrangement of PDGFRA. Our patient was found to have a normal ADAMTS-13 level which is not commonly seen with TTP. This case illustrates the importance of recognizing the atypical presentations of HES which may be difficult to recognize.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Gene Rearrangement
  • Humans
  • Hypereosinophilic Syndrome / diagnosis*
  • Hypereosinophilic Syndrome / genetics
  • Myeloproliferative Disorders / diagnosis*
  • Myeloproliferative Disorders / genetics
  • Oncogene Proteins, Fusion / genetics*
  • Purpura, Thrombotic Thrombocytopenic / diagnosis*
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • mRNA Cleavage and Polyadenylation Factors / genetics*

Substances

  • Oncogene Proteins, Fusion
  • mRNA Cleavage and Polyadenylation Factors
  • FIP1L1-PDGFRA fusion protein, human
  • Receptor, Platelet-Derived Growth Factor alpha