ArticleJournal of endocrinological investigation2022
Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.
Article in Journal of endocrinological investigation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 4 citations in OpenAlex.
- Do alkaline phosphatases have great potential in the diagnosis, prognosis, and treatment of tumors?Translational cancer research · 2023Review
- Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase.Calcified tissue international · 2023Review
- Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.Frontiers in endocrinology · 2023Article
- Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.Frontiers in endocrinology · 2022Article
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8 authors at 3 institutions in 1 country.
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Abstract
purposeThe study aimed to define the clinical, biochemical and genetic features of adult patients with osteopenia/osteoporosis and/or bone fragility and low serum alkaline phosphatase (sALP).
methodsTwenty-two patients with at least two sALP values below the reference range were retrospectively enrolled after exclusion of secondary causes. Data about clinical features, mineral and bone markers, serum pyridoxal-5'-phosphate (PLP), urine phosphoethanolamine (PEA), lumbar and femur bone densitometry, and column X-ray were collected. Peripheral blood DNA of each participant was analyzed to detect ALPL gene anomalies.
resultsPathogenic ALPL variants (pALPL) occurred in 23% and benign variants in 36% of patients (bALPL), while nine patients harbored wild-type alleles (wtALPL). Fragility fractures and dental anomalies were more frequent in patients harboring pALPL and bALPL than in wtALPL patients. Of note, wtALPL patients comprised women treated with tamoxifen for hormone-sensitive breast cancer. Mineral and bone markers were similar in the three groups. Mean urine PEA levels were significantly higher in patients harboring pALPL than those detected in patients harboring bALPL and wtALPL; by contrast, serum PLP levels were similar in the three groups. A 6-points score, considering clinical and biochemical features, was predictive of pALPL detection [P = 0.060, OR 1.92 (95% CI 0.972, 3.794)], and more significantly of pALPL or bALPL [P = 0.025, OR 14.33 (95% CI 1.401, 14.605)].
conclusionIn osteopenic/osteoporotic patients, single clinical or biochemical factors did not distinguish hypophosphatasemic patients harboring pALPL or bALPL from those harboring wtALPL. Occurrence of multiple clinical and biochemical features is predictive of ALPL anomalies, and, therefore, they should be carefully identified. Tamoxifen emerged as a hypophosphatasemic drug.
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