Agnès Bloch-Zupan1,2,3,4. 1. Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France. agnes.bloch-zupan@unistra.fr. 2. Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Centre de référence des manifestations odontologiques des maladies rares (CRMR), Reference Centre for Orodental Manifestations of Rare Diseases, Strasbourg, France. agnes.bloch-zupan@unistra.fr. 3. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS-UdS UMR7104, Université de Strasbourg, Illkirch, France. agnes.bloch-zupan@unistra.fr. 4. Eastman Dental Institute, University College London, London, UK. agnes.bloch-zupan@unistra.fr.
Abstract
BACKGROUND: Hypophosphatasia (HPP) is a rare inherited metabolic disease in which mutations in the ALPL gene (encoding tissue-nonspecific alkaline phosphatase) result in varying degrees of enzyme deficiency. HPP manifests in a spectrum of symptoms, including early primary tooth loss (root intact) and alveolar bone mineralisation defects. OBJECTIVE: To provide an overview of HPP for dental professionals to help recognise and differentially diagnose patients for appropriate referral to a specialist team. METHODS: A non-systematic review of publications on HPP was performed. RESULTS: Different forms of HPP are described, along with characteristic symptoms and laboratory findings. Diagnosis is challenging due to the rareness and variable presentation of symptoms. Low alkaline phosphatase levels are a signature of HPP, but reference ranges vary according to gender and age. Key features are defined and management strategies discussed, focusing on enzyme replacement therapy. Finally, a patient registry aimed at better defining the prevalence of HPP and raising awareness is described. CONCLUSIONS: HPP is a rare disease with a wide spectrum of manifestations, with orodental symptoms featuring prominently in the natural history. Dental professionals may be positioned at the beginning of the diagnostic pathway; thus, recognition of HPP features for timely referral and optimal disease management is important.
BACKGROUND:Hypophosphatasia (HPP) is a rare inherited metabolic disease in which mutations in the ALPL gene (encoding tissue-nonspecific alkaline phosphatase) result in varying degrees of enzyme deficiency. HPP manifests in a spectrum of symptoms, including early primary tooth loss (root intact) and alveolar bone mineralisation defects. OBJECTIVE: To provide an overview of HPP for dental professionals to help recognise and differentially diagnose patients for appropriate referral to a specialist team. METHODS: A non-systematic review of publications on HPP was performed. RESULTS: Different forms of HPP are described, along with characteristic symptoms and laboratory findings. Diagnosis is challenging due to the rareness and variable presentation of symptoms. Low alkaline phosphatase levels are a signature of HPP, but reference ranges vary according to gender and age. Key features are defined and management strategies discussed, focusing on enzyme replacement therapy. Finally, a patient registry aimed at better defining the prevalence of HPP and raising awareness is described. CONCLUSIONS: HPP is a rare disease with a wide spectrum of manifestations, with orodental symptoms featuring prominently in the natural history. Dental professionals may be positioned at the beginning of the diagnostic pathway; thus, recognition of HPP features for timely referral and optimal disease management is important.
Authors: Michael B Chavez; Kaitrin Kramer; Emily Y Chu; Vivek Thumbigere-Math; Brian L Foster Journal: J Struct Biol Date: 2020-08-03 Impact factor: 2.867
Authors: B L Foster; P Kuss; M C Yadav; T N Kolli; S Narisawa; L Lukashova; E Cory; R L Sah; M J Somerman; J L Millán Journal: J Dent Res Date: 2016-10-01 Impact factor: 6.116