Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia

Vieira, Lucio Henrique Rocha; Peixoto, Kleison Cordeiro; Flósi, Caroline Leal; Farias, Maria Lúcia Fleiuss; Madeira, Miguel

doi:10.20945/2359-3997000000347

Cited by 3 publications

(2 citation statements)

References 21 publications

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“… 8 This is concordant with a German study, which found 1.31% of patients treated in rheumatology at the University Hospital of Bonn from 2017 to 2019 showed persistently low serum ALP levels (<35 UI/L). 13 As regards the proportion of patients with persistent hypophosphatasaemia, it was 33.3% in the study by McKiernan et al , 8 and 39% in a study by Vieira et al , 14 which is concordant with our result of 27.6%. Similarly, Feurstein et al found 5.5% of patients with at least one low ALP value under 40 UI/L, with only 13.9% of patients presenting persistent low ALP levels and musculoskeletal symptoms; they represented 0.8% of the whole population from a rheumatology outpatient clinic in Vienna specialised in rheumatology and rare bone diseases.…”

Section: Discussionsupporting

confidence: 91%

Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years

Larid,

Vix,

Preuss

et al. 2024

RMD Open

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IntroductionHypophosphatasia (HPP) is a rare genetic disease caused by loss-of-function mutations in the ALPL gene encoding the tissue non-specific alkaline phosphatase (ALP). Mild HPP is usually misdiagnosed in adult age. While an elevated serum ALP value draws more attention than a low value, low serum ALP should be better recognised and may lead to HPP detection.MethodsPatients were selected from the records of the biochemistry department of six University Hospitals in France. Patients were hospitalised in the departments of rheumatology and internal medicine between 2007 and 2017.Results56 321 hospitalised patients had at least 2 serum ALP dosages and 664 of these patients had at least 2 low serum ALP≤35 UI/L. Among these 664 patients, 482 (72.6%) had fluctuating low values (mean age 62.9 years; 60% of women) and 182 patients (27.4%) had persistent low values below 35 IU/L (mean age 53.4 years; 67% of women). Among patients with persistent hypophosphatasaemia treated with bisphosphonates, 70.8% never had ALP measurement before treatment and 20.8% were treated despite an abnormal decrease of ALP. Genetic testing was performed in 18 patients and was positive in 11. Genetic diagnosis of HPP was at least 6.0% in persistent hypophosphatasaemia and at least 15.9% in patients with at least three symptoms suggestive of HPP.ConclusionIn this 10-year retrospective study, 0.32% of adult patients hospitalised in the rheumatology and internal medicine departments had persistently low serum ALP, and among them, 6% had genetically proven HPP. Reported hypophosphatasaemia represented only 3.6% of hospitalised patients.

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Section: Discussionsupporting

confidence: 91%

Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years

Larid,

Vix,

Preuss

et al. 2024

RMD Open

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“…Genetic testing was not performed. The authors hypothesised a lower HPP prevalence in Brazil compared to other countries [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

Identifying adult hypophosphatasia in the rheumatology unit

Feurstein

Behanová

Haschka

et al. 2022

Orphanet J Rare Dis

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Background The 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. Methods Over 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. Results Mutations 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. Conclusion HPP 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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A low serum alkaline phosphatase may signal hypophosphatasia in osteoporosis clinic patients

Ashkar

Seeman

et al. 2022

Osteoporos Int

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Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia

Cited by 3 publications

References 21 publications

Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years

Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years

Identifying adult hypophosphatasia in the rheumatology unit

A low serum alkaline phosphatase may signal hypophosphatasia in osteoporosis clinic patients

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