Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective

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.

To provide an overview of HPP for dental professionals to help recognise and differentially diagnose patients for appropriate referral to a specialist team.

A non-systematic review of publications on HPP was performed.

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.

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.