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Adult hypophosphatasia — SCE Rheumatology MCQ

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HardMetabolic bone diseaseAdult hypophosphatasiaSCE Rheumatology

A 46-year-old woman has recurrent metatarsal stress fractures, early loss of adult teeth and chronic musculoskeletal pain. ALP is persistently low on repeated testing, phosphate is high-normal and vitamin D is sufficient. What is the most likely diagnosis?

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Correct answer: DAdult hypophosphatasia

Persistently low ALP with stress fractures and premature tooth loss suggests adult hypophosphatasia. Paget disease usually raises ALP, and primary hyperparathyroidism causes hypercalcaemia with high PTH. Recognising hypophosphatasia matters because bisphosphonates may worsen atypical fracture risk.

Reference: BSR rheumatology curriculum; metabolic bone disease reviews