Liver disease is frequently observed in Down syndrome patients with transient abnormal myelopoiesis

Int J Hematol. 2014 Feb;99(2):154-61. doi: 10.1007/s12185-013-1487-5. Epub 2013 Dec 14.

Abstract

Transient abnormal myelopoiesis (TAM) in neonates with Down syndrome (DS) is characterized by the transient appearance of blast cells, which resolves spontaneously. Approximately 20 % of patients with TAM die at an early age due to organ failure, including liver disease. We studied 25 DS-TAM patients retrospectively to clarify the correlation between clinical and laboratory characteristics and liver diseases. Early death (<6 months of age) occurred in four of the 25 patients (16.0 %), and two of those four patients died due to liver failure. Although physiologic jaundice improved gradually after a week, all DS patients had elevated D-Bil levels during the clinical course of TAM, except one who suffered early death. The median peak day of the WBC count, total bilirubin (T-Bil) and D-Bil levels was: day 1 (range day 0-57), day 8 (range day 1-55), and day 17 (range 1-53), respectively. Our results reveal that all patients with DS-TAM may develop liver disease irrespective of the absence or presence of symptoms and risk factors for early death. In patients of DS-TAM, careful observation of the level of D-Bil is needed by at least 1 month of age for the detection of liver disease risk.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disease Progression
  • Down Syndrome / physiopathology*
  • Female
  • Hepatic Insufficiency / congenital
  • Hepatic Insufficiency / epidemiology
  • Hepatic Insufficiency / etiology*
  • Hepatic Insufficiency / physiopathology
  • Hospitals, Pediatric
  • Humans
  • Infant, Newborn
  • Japan / epidemiology
  • Leukemoid Reaction / physiopathology*
  • Liver / physiopathology*
  • Male
  • Multiple Organ Failure / epidemiology
  • Multiple Organ Failure / etiology
  • Retrospective Studies
  • Risk Factors
  • Severity of Illness Index

Supplementary concepts

  • Myeloproliferative Syndrome, Transient