Orthopaedic problems in adult hypophosphatasia: a report of two cases.
Hypophosphatasia in adults is rare. Two elderly sisters presenting with pathological fractures of the femur are reported to illustrate the difficulties in orthopaedic management of this disease. All patients with a history of repeated fractures, especially from minor trauma and with generalised radiological bony abnormality, should be screened for this rare disease. A consistently low level of serum alkaline phosphatase with the presence of phosphoethanolamine in the urine is diagnostic.
D000368:Aged; D005260:Female; D005264:Femoral Fractures / Q000209:etiology*; D005265:Femoral Neck Fractures / Q000209:etiology*; D005598:Fractures, Spontaneous / Q000209:etiology*; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications* / Q000235:genetics; D008875:Middle Aged; D014945:Wound Healing