Details

Autor(en) / Beteiligte

• Hepp, Nicola
• Frederiksen, Anja Lisbeth
• Duno, Morten
• Jørgensen, Niklas Rye
• Jensen, Jens-Erik Beck

Titel

Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study

Ist Teil von

• Osteoporosis international, 2022-12, Vol.33 (12), p.2595-2605

Ort / Verlag

London: Springer London

Erscheinungsjahr

2022

Link zum Volltext

Quelle

SpringerLink (Online service)

Beschreibungen/Notizen

• Summary Hypophosphatasia (HPP) is a rare disease affecting bone mineralization. Adults with HPP have an increased occurrence of low-energy fractures, which cannot be explained by reduced bone mass assessed by dual energy X-ray absorptiometry. The bone phenotype in adults with HPP requires further studies investigating bone strength and bone structural parameters. Introduction Hypophosphatasia (HPP) is a rare inherited disorder of bone and mineral metabolism, characterized by broad-ranging clinical manifestations and severity. However, studies investigating the clinical spectrum in adults with HPP compared to a control group are scarce. The aim of this study was to evaluate biochemical and clinical characteristics as well as bone health in a Danish cohort of adults with HPP. Methods We conducted a cross-sectional study assessing biochemical parameters, fracture prevalence, bone mineral density (BMD), bone turnover markers, physical performance and pain characteristics in 40 adults with HPP and 40 sex-, age-, BMI- and menopausal status-matched healthy controls. Results Patients with HPP had a significantly higher prevalence of non-vertebral, low-energy fractures ( p  =  < 0.001). BMD at the lumbar spine, total hip, femoral neck, forearm and whole body did not differ between the groups. Low levels of the bone-specific alkaline phosphatase correlated significantly with higher BMD at the lumbar spine and femoral neck in both groups. The bone formation marker N-terminal propeptide of type 1 procollagen was significantly lower in patients with HPP than healthy controls ( p  = 0.006). Adults with HPP had significantly reduced walking capability ( p  =  < 0.001) and lower body strength ( p  =  < 0.001). Chronic pain was significantly more prevalent in adults with HPP than the control group ( p  = 0.029). Conclusions The increased occurrence of low-energy fractures in adults with HPP is not explained by low BMD. Adults with HPP have reduced physical performance when compared with healthy controls.