An Intriguing Case of Eosinophilia with FIP1L1/PDGFRA Rearrangement Who Presented as Thrombotic Thrombocytopenic Purpura

Abstract

Myeloid neoplasm with eosinophilia and FIP1-like-1-platelet-derived growth factor receptor-alpha (FIP1L1-PDGFRA) rearrangement is a multi-organ disease with diverse clinical presentation. Thrombotic thrombocytopenic purpura (TTP) is characterized by the concomitant occurrence of often severe thrombocytopenia, microangiopathic hemolytic anemia, and a variable degree of ischemic organ damage. To our knowledge, only one case of eosinophilia with FIP1L1-PDGFRA rearrangement presented as a case of thrombotic thrombocytopenic purpura reported in the literature. We herein report a case of a young male patient with hypereosinophilic syndrome and FIP1L1-PDGFRA rearrangement who presented with asthma, transient ischemic attacks (TIA), and confusion. He had an acquired TTP that was successfully treated with plasma exchanges (PLEX), corticosteroids, rituximab, and later with the addition of imatinib mesylate (Gleevec, Novartis). He remains in complete remission on imatinib 100 mg daily for more than 28 months of follow-up.

Severe Eosinophilia Associated with FIP1L1/PDGFRA Rearrangement Presenting with Yamaguchi Syndrome

“…Our patient is a case of chronic eosinophilic leukemia associated with PDGFRA rearrangement, presenting with severe eosinophilia and evidence of multi-organ damage. Several case reports and case series of patients with eosinophilia associated with FIP1L1/PDGFRA rearrangement, have been published from various countries [7][8][9][10][11][12][13][14][15][16][17][18]. In addition to the more common presentations, they have described the clinical features and outcome of this rare disease entity in paediatric patients, the occurrence of rare FIP1L1 breakpoint (located outside the usual breakpoint region) and atypical presentation of the disease with thrombotic thrombocytopenia purpura.…”