ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2023
Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology.
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, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 10 citations in OpenAlex.
- A randomized Phase 1b trial evaluating the pharmacodynamics of ilofotase alfa in adults with hypophosphatasia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Trial
- Prevalence of hypophosphatasia in general and selected patient populations: a systematic review.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Review
- Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test.International journal of molecular sciences · 2026Article
- Calcium Disorders in Rheumatic Diseases: An Overlooked Problem With Major Clinical Implications.Cureus · 2026Review
- Natural history of hypophosphatasia in Chinese patients younger than 18 years: a single-center retrospective observational study.Frontiers in endocrinology · 2026Observational
- The Challenge of Hypophosphatasia Diagnosis in Patients with Fibromyalgia.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2026Article
- Tissue-nonspecific alkaline phosphatase deficiency is associated with altered immune cell profiles in hypophosphatasia.Frontiers in immunology · 2026Article
- Adult Hypophosphatasia in a Middle-Aged Patient With Recurrent Fractures: Prevention of New Fractures With Asfotase Alfa.JCEM case reports · 2025Article
- Mobility and Quality of Life in Adults with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement.Advances in therapy · 2025Observational
- Disease burden byJournal of medical genetics · 2025Article
- Article
- Case series demonstrating the effectiveness of Zn supplements in adults with hypophosphatasia who were overlooked for a long time.SAGE open medical case reports · 2025Article
- Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.Molecular biology reports · 2024Observational
- Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications.Journal of clinical medicine · 2024Review
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesHypophosphatasia (HPP) is a rare genetic metabolic bone disease that can cause chronic pain and fractures. Its hallmark is a persistently low serum ALP. HPP is now recognised by many osteoporosis specialists, but other specialists, such as rheumatologists and primary care physicians, may be less aware of this condition, causing diagnostic delay and possible harm to these patients. Our objective was to highlight features that can reduce this delay.
methodsWe retrospectively analysed 14 patients that presented with musculoskeletal pain to general rheumatology clinic at St. George's Hospital and were subsequently diagnosed with HPP.
resultsMedian diagnostic delay was 13 years. All patients had an ALP below reference range for age and gender, with lowest mean ALP of 16 IU/L. All but one patient were women with median age of 51 years. Most common presentation was peripheral joint pain in 85.7% of patients. This was due to early-onset CPPD (calcium pyrophosphate deposition disease) in 71.4% of patients, osteoarthritis in 50%, or bursitis in 50%. Axial pain was reported in 64% of patients due to osteoarthritis or spinal stenosis. Fifty percent of patients had a history of long bone pain. Fifty percent had previous fracture(s). A total of 28.6% of patients had psoriatic arthritis, of which 1 patient had spondyloarthropathy, and 4 patients also had enthesitis.
conclusionPatients with HPP can present to rheumatology with musculoskeletal pain, and if a persistently low ALP is confirmed, this may reduce the diagnostic delay of this rare disease. Similar to other rheumatologic patients, musculoskeletal pain in HPP was noted in peripheral joints and in the spine with almost a third of patients having psoriatic arthritis. Pain was also noted in the long bones, a feature consistent with metabolic bone disease. The diagnosis of HPP was also more likely in those patients with a personal or family history of dental disease or arthritis.
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