Tired teen’s fracture uncovers a surprising genetic discovery

A student's ankle fracture triggers rising bilirubin and jaundice, leading to the finding of a genetic double whammy

Gerald is a 16-year-old TAFE student. He initially presents following an ankle injury, which resulted in an avulsion fracture of the talus, treated with controlled ankle motion boot immobilisation.

At a follow-up appointment several weeks later, Gerald mentions in passing that he has been feeling tired for the past few weeks.

Blood tests reveal total bilirubin is elevated at 76μmol/L (normal: 4-20), with a conjugated bilirubin of 12μmol/L (normal: 0-9), and mildly elevated ALT at 123U/L