Beschreibung:
<jats:title>Abstract</jats:title><jats:sec><jats:title>Aim</jats:title><jats:p>This study evaluated the oral health status of adult patients with hypophosphatasia (HPP).</jats:p></jats:sec><jats:sec><jats:title>Materials and Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Of 80 HPP patients (64 female) with a mean age of 46.4 years (range 24–78) and one (<jats:italic>n</jats:italic> = 55) or two (<jats:italic>n</jats:italic> = 18) variants (<jats:italic>n</jats:italic> = 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.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>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.</jats:p></jats:sec>