Pure red cell aplasia in a patient with trisomy X chromosome abnormality and reactivated Epstein-Barr virus infection.
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.
Daibata
Masanori
M
Third Department of Internal Medicine, Kochi Medical School, Kochi, Japan. daibatam@kochi-ms.ac.jp
Machida
Hisanori
H
Nemoto
Yuiko
Y
Taguchi
Hirokuni
H
D041321:Chromosomes, Human, X; D004279:DNA, Viral / Q000097:blood; D020031:Epstein-Barr Virus Infections / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005260:Female; D004854:Herpesvirus 4, Human / Q000502:physiology; D006801:Humans; D008875:Middle Aged; D011239:Prednisolone / Q000627:therapeutic use; D012010:Red-Cell Aplasia, Pure / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D012729:Sex Chromosome Aberrations; D014314:Trisomy; D014775:Virus Activation
D004279:DNA, Viral; D011239:Prednisolone