[Delayed bone healing after osteotomy - what the family history revealed].

Abstract

Introduction: A 35-year-old woman presented with delayed bone healing after periacetabular osteotomy, despite appropriate postoperative unloading and vitamin D supplementation. Laboratory evaluation revealed persistently low serum alkaline phosphatase (ALP) activity with otherwise normal bone metabolism markers. The patient's family history, which included a known ALPL gene mutation, ultimately led to the diagnosis of a rare metabolic bone disorder. Genetic testing confirmed the adult form of hypophosphatasia. This case highlights the importance of subtle biochemical findings and thorough family history in the diagnosis of rare conditions.