Hypophosphatasia- Dental considerations

Abstract

Hypophosphatasia is a hereditary condition characterized by decreased level of serum alkaline phosphatase (APase), elevation of phosphoethanolamine (PEA) in urine, premature loss of teeth, and skeletal abnormalities. Hypophosphatasia (HPP) is also a rare inherited metabolic disease in which mutations in the ALPL gene (encoding tissue-nonspecific alkaline phosphatase) results in varying degrees of enzyme deficiency. Hypophosphatasia manifests in a spectrum of symptoms, including early primary tooth loss (root intact) and alveolar bone mineralization defects. Premature loss of primary and permanent teeth is due to disturbed cementum formation and tooth roots in affected patients do not adequately attach to absorbed alveolar bone due to malformed cementum. Dental professionals are in a position to identify and recognize hypophosphatasia features for timely referral and optimal disease management.