Abstract
CONTEXT: Impairments in musculoskeletal and mental health are common in adults with Hypophosphatasia (HPP). Restricted phosphorus intake has been suggested to positively affect symptoms in HPP, but there is a lack of interventional evidence. OBJECTIVE: This work aimed to evaluate the effect of a phosphorus-restricted, calcium-adjusted diet on musculoskeletal and mental health in HPP. METHODS: A prospective, noncontrolled, single-center interventional study (NuSTEPS II) was conducted among outpatients at the Osteology Department, University of Wuerzburg, Germany. A total of 26 adults with an established HPP diagnosis received a standardized diet with a defined daily intake of phosphorus (1160-1240 mg/d) and calcium (870-930 mg/d) over 8 weeks. Main outcome measures were functional testing and patient-reported outcome measures. RESULTS: At 8 weeks, significant improvements were observed in usual gait speed (P = .028) and the chair-rise test (P = .019), while no significant changes were seen in the 6-minute walk test (P = .468) and the timed up-and-go test (P = .230). Pain was not significantly reduced according to the visual analog scale (VAS) (P = .061), pain subscale of the 36-Item Short-Form Health Survey (SF-36) (P = .346), and Pain Disability Index (P = .686). Further, there was a significant improvement in the SF-36 vitality subscale (P = .022) while all other subscales as well as the Lower Extremity Functional Scale (P = .670) and the Fatigue Assessment Scale (P = .392) did not change significantly. Adjustments of mineral intake were not associated with relevant alterations regarding the intake of energy and energy-supplying nutrients or body composition. CONCLUSION: Adjusting phosphorus and calcium intake may positively affect individual symptoms in adults with HPP, but overall clinical effectiveness regarding major issues like pain and endurance appears limited.