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 (normal: 5-40) and LDH at 275U/L (normal: 120-250).
The remaining blood tests are normal, including FBC, iron studies and EUC.
