High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis

J Pediatr Hematol Oncol. 2003 Dec;25(12):952-4. doi: 10.1097/00043426-200312000-00009.


Objectives: Retrospective cholecystography studies in adults with hereditary spherocytosis (HS) suggested detectable gallstones in 37% to 43% of patients. Since longitudinal studies using biliary ultrasonography are unavailable, the aim of the present study was to determine the incidence of gallstone disease, as detected by biliary ultrasonography, in children and young adults with HS. As individuals with HS who co-inherit Gilbert syndrome have a greater risk of developing gallstones, uridine diphosphate-glucuronyl transferase (UGT-1A) gene polymorphism was also determined.

Patients and methods: The authors retrospectively evaluated 44 patients aged 1.4 to 22 years with HS, 12 (27%) of whom underwent splenectomy. Ultrasonography was performed annually starting at the age of 4 years or at the time of diagnosis, if later.

Results: Of the 44 patients, 18 (41%) developed cholelithiasis as demonstrated by gallbladder ultrasonography. In most patients (94%) the test first proved positive at age 4 to 13 years. Patients with HS and Gilbert syndrome tended to be younger at the time of cholelithiasis.

Conclusions: Early cholelithiasis was detected in children and young adults with HS. To identify this complication, the authors recommend early annual biliary ultrasonography in HS children, starting at about 4 years of age. In patients with Gilbert syndrome, closer follow-up may be indicated.

MeSH terms

  • Adolescent
  • Adult
  • Age Distribution
  • Child
  • Child, Preschool
  • Cholelithiasis / diagnostic imaging
  • Cholelithiasis / epidemiology*
  • Cholelithiasis / etiology
  • Gallstones / diagnostic imaging
  • Gilbert Disease
  • Glucuronosyltransferase / genetics
  • Humans
  • Incidence
  • Polymorphism, Genetic
  • Retrospective Studies
  • Spherocytosis, Hereditary / complications
  • Spherocytosis, Hereditary / diagnostic imaging*
  • Splenectomy
  • Ultrasonography


  • UGT1A1 enzyme
  • Glucuronosyltransferase