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Scientific Article | Unique Association of Myeloid Neoplasm with Eosinophilia and Abnormalities of PDGFRA with TTP Lubna N. Chaudhary, MD PGY-II Internal Medicine Resident, WVU, Morgantown Nathanael G. Bailey, MD Department of Pathology, WVU, Morgantown Jeffrey A. Vos, MD Department of Pathology, WVU, Morgantown Christy J. Stotler, DO Division of Hematology & Oncology, Mary Babb Randolph Cancer Center, WVU, Morgantown Corresponding Author: Lubna N. Chaudhary, MD, Dept. of Internal Medicine, West Virginia University, Morgantown, WV 26506. lchaudhary@hsc.wvu.edu 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. Introduction The hypereosinophilic syndromes (HES) are a group of disorders characterized by sustained overproduction of eosinophils, in which eosinophilic infiltration and mediator release cause damage to multiple organs, most commonly heart, lung, central nervous system, gastrointestinal tract and skin. The evaluation of HES is extensive and requires investigation of all underlying reactive and neoplastic etiologies of eosinophilia. The diagnosis of idiopathic hypereosinophilic syndrome, therefore, is one of exclusion. The idiopathic hypereosinophilic syndrome was first defined by Chusid et al in 1975 as (1) persistent eosinophilia of 1.5x10 9/L or more for longer than 6 months associated with signs and symptoms of hypereosinophilic disease; (2) a lack of evidence for parasites, allergies or other known causes of eosinophilia; and (3) presumptive signs and symptoms of organ involvement. 1 The most common mutation associated with the myeloproliferative variant of HES is the fusion tyrosine kinase FIP1L1/PDGFRA. Patients with this mutation respond dramatically to the tyrosine kinase inhibitor, imatinib mesylate, with clinical, hematological and molecular remission. Thrombotic thrombocytopenic purpura (TTP) is a life threatening disorder characterized by thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and less consistently with fever, renal involvement and neurological symptoms. Recent studies have indicated that the deficiency of A Disintegrin-like and Metalloprotease with Thrombospondin Type 1 Motif, 13 (ADAMTS13) is a cause of TTP. 2,3 ADAMTS13 is a von Willebrand factor-cleaving protease and its deficiency causes accumulation of ultra-large multimers of VWF responsible for the thrombotic and MAHA complications of this disease. HES and thrombotic thrombocytopenic Abbreviations Used Explanation FIP1L1-PDGFRA FIP1-like 1-Platelet derived growth factor receptor type A TTP Thrombotic Thrombocytopenic purpura HES Hypereosinophilic syndrome ADAMTS-13 A Disintegrin-like and Metalloprotease with Thrombospondin Type 1 Motif, 13 MAHA Microangiopathic hemolytic anemia VWF Von Williebrand factor LDH Lactate dehydrogenase PEX Plasma exchange FISH Florescent in-situ hybridization CHIC2 Cysteine-rich hydrophobic domain 2 RT-PCR Reverse transcriptase-polymerase chain reaction ADCC Antibody dependent cell-mediated cytotoxicity 6 West Virginia Medical Journal
| Scientific Article Figure 1. Peripheral blood smear showing markedly increased eosinophils (red arrows) and 4+ schistocytes (narrow black arrows). (H & E staining; original magnification x 100). purpura (TTP) have rarely been reported to occur together. Case Presentation This report describes a 37 year old Caucasian female for whom TTP represented the presenting manifestation of HES (myeloid neoplasm with eosinophilia and abnormalities of PDGFRA; WHO2008). The patient had no significant past medical history and was not taking any medications at the time of presentation. She reported 2 months of weight loss, fatigue, confusion and renal failure. Laboratory evaluation revealed: WBC count=14,600/uL, absolute eosinophil count=7000/uL, platelet count=64,000/uL, Hgb=10.2g/ dL, LDH=371U/L, haptoglobin
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