Oral health status of adult hypophosphatasia patients: A cross-sectional study

J Clin Periodontol. 2022 Dec;49(12):1253-1261. doi: 10.1111/jcpe.13718. Epub 2022 Sep 7.


Aim: This study evaluated the oral health status of adult patients with hypophosphatasia (HPP).

Materials and methods: Parameters of oral health assessment comprised decayed/missing/filled teeth (DMFT) index, probing pocket depth and clinical attachment level (CAL) as well as documentation of tooth loss and periodontal health status according to CCD/AAP criteria. Findings were compared with national reference data (DMS V survey) reporting oral health status in age-related controls. Within-group comparisons were made between the HPP patients harbouring one versus two alkaline phosphatase liver/bone/kidney type (ALPL) gene variants.

Results: Of 80 HPP patients (64 female) with a mean age of 46.4 years (range 24-78) and one (n = 55) or two (n = 18) variants (n = 7 lacking testing) within the ALPL gene, those with two variants displayed substantially higher tooth loss rate (14.0 ± 9.3) than those affected by only one ALPL variant (4.1 ± 5.4), who did not differ substantially from healthy DMS V controls. While DMFT score and severe periodontal diseases (PDs) of HPP patients with one variant only increased with progressing age, the two-variant sub-cohort age independently exhibited increased DMFT scores and a higher rate of severe PDs.

Conclusions: HPP patients affected by two variants of the ALPL gene exhibited a higher risk of periodontitis and tooth loss than the general population, while patients with one variant developed clinically relevant oral disease symptoms with progressing ageing.

Clinicaltrials: gov identifier: NCT02291497.

Keywords: dental status; hypophosphatasia; inflammation; periodontal disease; tooth loss.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alkaline Phosphatase
  • Cross-Sectional Studies
  • Female
  • Humans
  • Hypophosphatasia* / complications
  • Hypophosphatasia* / epidemiology
  • Hypophosphatasia* / genetics
  • Middle Aged
  • Oral Health
  • Tooth Loss* / epidemiology
  • Young Adult


  • Alkaline Phosphatase

Supplementary concepts

  • Hypophosphatasia, Adult

Associated data

  • ClinicalTrials.gov/NCT02291497

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