ArticleOrphanet journal of rare diseases2021
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- 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
- Impact of clinical symptoms on quality of life in adult hypophosphatasia: a monocentric study in northern Germany.JBMR plus · 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
- Machine learning-based penetrance of genetic variants.Science (New York, N.Y.) · 2025Article
- Disease burden byJournal of medical genetics · 2025Article
- Review
- Biochemical evaluation of X-linked hypophosphatemia and tumor-induced osteomalacia: insights into diagnosis and management.Frontiers in endocrinology · 2025Review
- Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider-Retrospective Analyses over Fifteen Years.Journal of clinical medicine · 2024Article
- The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia.International journal of molecular sciences · 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
- Subnormal Serum Liver Enzyme Levels: A Review of Pathophysiology and Clinical Significance.Journal of clinical and translational hepatology · 2024Review
- Article
- The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion.Journal of endocrinological investigation · 2024Article
- Aetiologies of low alkaline phosphatase in a Canadian Paediatric Tertiary Care Centre.Paediatrics & child health · 2023Article
- Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase.Calcified tissue international · 2023Review
- Identifying adult hypophosphatasia in the rheumatology unit.Orphanet journal of rare diseases · 2022Article
- Dental manifestation and management of hypophosphatasia.The Japanese dental science review · 2022Review
- Dental manifestations in adult hypophosphatasia and their correlation with biomarkers.JIMD reports · 2022Article
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5 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundTissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of particular importance for bone mineralization. Mutation in the ALPL gene can lead to persistent low ALP activity resulting in the rare disease Hypophosphatasia (HPP) that is characterized by disturbed bone and dental mineralization. While severe forms are extremely rare with an estimated prevalence of 1/100.000, recent studies suggest that moderate form caused by heterozygous mutations are much more frequent with an estimated prevalence of 1/508. The purpose of this study was to estimate the prevalence of low AP levels in the population based on laboratory measurements.
methodsIn this study, the prevalence of low AP activity and elevated pyridoxal-5-phosphate (PLP) levels was analyzed in 6.918.126 measurements from 2011 to 2016 at a single laboratory in northern Germany. Only laboratory values of subjects older than 18 years of age were included. Only the first measurement was included, all repeated values were excluded.
resultsIn total, 8.46% of the measurements of a total of 6.918.126 values showed a value < 30 U/L. 0.59% of the subjects with an ALP activity below 30 U/L had an additional PLP measurement. Here, 6.09% showed elevated pyridoxal-5-phosphate (PLP) levels. This suggest that 0.52% (1:194) of subjects show laboratory signs of HPP.
conclusionThese data support the genetic estimation that the prevalence of moderate forms of HPP may be significantly higher than expected. Based on these data, we recommend automatically measurement of PLP in the case of low ALP activity and a notification to the ordering physician that HPP should be included in the differential diagnosis and further exploration is recommended.
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