Pure red cell aplasia in a patient with trisomy X chromosome abnormality and reactivated Epstein-Barr virus infection

• Published in: International journal of hematology Vol. 77; no. 4; pp. 354 - 358
• Main Authors: DAIBATA, Masanori, MACHIDA, Hisanori, NEMOTO, Yuiko, TAGUCHI, Hirokuni
• Format: Journal Article
• Language: English
• Published: Tokyo Springer 01.05.2003
• Subjects: Biological and medical sciences; Chromosome aberrations; Chromosomes, Human, X; DNA, Viral - blood; Epstein-Barr Virus Infections - complications; Epstein-Barr Virus Infections - diagnosis; Epstein-Barr Virus Infections - drug therapy; Female; Hematologic and hematopoietic diseases; Herpesvirus 4, Human - physiology; Humans; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Medical genetics; Medical sciences; Middle Aged; Prednisolone - therapeutic use; Red-Cell Aplasia, Pure - diagnosis; Red-Cell Aplasia, Pure - drug therapy; Red-Cell Aplasia, Pure - etiology; Sex Chromosome Aberrations; Trisomy; Virus Activation; Chromosomal aberration; Gammaherpesvirinae; Human; Reactivation; Trisomy; Herpesviridae; Aplastic anemia; Aneuploidy; Hemopathy; Epstein Barr virus; Supernumerary X chromosome; Congenital disease; Erythroblast; Virus; Case study; Infection; Female; X-Chromosome; Pure red cell aplasia
• ISSN: 0925-5710; 1865-3774
• DOI: 10.1007/BF02982643

We describe a woman with a congenital chromosome anomaly, 47,XXX, who developed chronic pure red cell aplasia (PRCA). The patient had serologic reactivity consistent with that of reactivated Epstein-Barr virus (EBV) infection, as judged by high titers for anti-EBV viral capsid antigen (VCA) immunoglobulin G (IgG) and anti-early antigen (EA) IgG. Detection of EBV genome in peripheral blood cells and cell-free serum also supported the diagnosis. Although EBV infection has been implicated in the pathogenesis of acute PRCA, the viral infection rarely results in a chronic disease state. So far, only 1 case of EBV-associated chronic PRCA has been reported, to the best of our knowledge. Chronic PRCA also is known to occur on an autoimmune basis. Individuals carrying an extra X chromosome, such as XXY and XXX, are prone to development of immune abnormalities. Our patient had an anti-DNA autoantibody and a positive result of the direct Coombs test. The pathogenesis of PRCA in this case seemed to involve multiple factors. In addition to the infectious agent, host factors may have played a role. Although the etiologic link between chronic PRCA and trisomy X remains to be elucidated, our findings suggest the importance of karyotype analysis as well as search for infectious agents in patients with chronic PRCA.