ArticleOrphanet journal of rare diseases2022
Identifying adult hypophosphatasia in the rheumatology unit.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 28 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
- Persistently low serum alkaline phosphatase in adults: prevalence and clinical characteristics in a large tertiary care hospital.Orphanet journal of rare diseases · 2026Article
- Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- The Challenge of Hypophosphatasia Diagnosis in Patients with Fibromyalgia.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2026Article
- Prevalence of clinical manifestations among patients with hypophosphatasia in Central and Eastern European countries.Frontiers in endocrinology · 2026Article
- When the diagnosis misses the mark: The psychiatric cost of misdiagnosing hypophosphatasia as fibromyalgia.World journal of clinical cases · 2025Article
- Hypophosphatasia and Type 1 Diabetes: A Pilot Study and Review of Literature.Current osteoporosis reports · 2025Review
- Article
- Diagnosis and Treatment of Hypophosphatasia.Calcified tissue international · 2025Review
- Article
- Review
- Administration of Bisphosphonate Preparations to Mice with Mild-type Hypophosphatasia Reduces the Quality of Spontaneous Locomotor Activity.Calcified tissue international · 2025Article
- Adult hypophosphatasia presenting with recurrent acute joint pain.Endocrinology, diabetes & metabolism case reports · 2025Article
- Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider-Retrospective Analyses over Fifteen Years.Journal of clinical medicine · 2024Article
- Longitudinal course of circulating miRNAs in a patient with hypophosphatasia and asfotase alfa treatment: a case report.JBMR plus · 2024Article
- A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States.Journal of endocrinological investigation · 2024Article
- Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications.Journal of clinical medicine · 2024Review
- Article
- Rare Causes of Musculoskeletal Pain: Thinking beyond Common Rheumatologic Diseases.Case reports in rheumatology · 2024Article
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis. The aim of the study was to assess the prevalence of ALPL mutations in adult patients treated in rheumatological outpatient facilities with evident musculoskeletal symptoms typical for HPP.
methodsOver a period of 10 years 9,522 patients were screened in the rheumatology outpatient clinic of the Hanusch hospital Vienna. Serum ALP levels ≤ 40 U/L were found in 524 patients. After screening for secondary causes, 73 patients were invited for clinical evaluation. Genetic testing was performed in 23 patients with suspected HPP. Logistic regression models with Firth penalisation were used to estimate the unadjusted and BMI-adjusted association of each clinical factor with HPP.
resultsMutations in the ALPL gene were observed in 57% of genetically screened patients. Arthralgia, fractures, and pain were the leading symptoms in individuals with ALPL mutation. Chondrocalcinosis (OR 29.12; 95% CI 2.02-1593.52) and dental disease (OR 8.33; 95% CI 0.93-143.40) were associated with ALPL mutation, independent of BMI. Onset of symptoms in patients with ALPL mutation was at 35.1 (14.3) years, with a mean duration from symptoms to diagnosis of 14.4 (8.1) years. Bone mineral density (BMD) and trabecular bone score (TBS) as well as bone turnover markers were not indicative for HPP or ALPL mutation.
conclusionHPP can mimic rheumatologic diseases. Thus, HPP should be considered as a possible diagnosis in adult patients presenting with musculoskeletal pain of unknown origin in rheumatology outpatient clinics. In patients with persistently low ALP serum levels and unclear musculoskeletal pain, HPP as the underlying cause has to be considered.
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