Dissociation of clinical, laboratory, and bone biopsy findings in adult X-linked hypophosphatemia: a  case report

We report the case of a middle-aged woman with clinically mild disease, relatively balanced laboratory values, but bone non-healing of the femur post-surgery. Transiliac bone biopsy revealed pronounced osteomalacia and severe deterioration of bone microstructure. Due to the lack of XLH-typical symptoms, the patient was not substituted with calcitriol and phosphate in adulthood. Thus, laboratory findings and radiological examinations do not necessarily reflect bone metabolism in XLH. Bone biopsies should be considered in unclear cases or prior to surgery in adult s with XLH.
Source: Wiener Medizinische Wochenschrift - Category: General Medicine Source Type: research