ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2022
Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 12 citations in OpenAlex.
- Hypophosphatasia and Type 1 Diabetes: A Pilot Study and Review of Literature.Current osteoporosis reports · 2025Review
- Alkaline Phosphatase as a Potential Biomarker of Muscle Function: A Pilot Study in Patients with Hypophosphatasia.International journal of molecular sciences · 2025Article
- Family mapping of previously identified patients with pathogenic or likely pathogenicJBMR plus · 2025Article
- How does overweight affect bone mineral density and oral health in adult hypophosphatasia?- A single center experience.Orphanet journal of rare diseases · 2025Article
- Oro-Dental Characteristics in Patients With Adult-Onset Hypophosphatasia Compared to a Healthy Control Group-A Case-Control Study.Journal of oral rehabilitation · 2025Article
- Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2024Review
- Longitudinal course of circulating miRNAs in a patient with hypophosphatasia and asfotase alfa treatment: a case report.JBMR plus · 2024Article
- Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.Current osteoporosis reports · 2024Review
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5 authors at 3 institutions in 1 country.
Funding
Abstract
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.
introductionHypophosphatasia (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.
methodsWe 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.
resultsPatients 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).
conclusionsThe 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.
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