Patient Management
Elizabeth J. Mechas, DMD (she/her/hers)
Pediatric Dental Resident
Indiana University/Riley Children's Hospital
Indiana University School of Dentistry and Riley Hospital for Children
Indianapolis, Indiana, United States
LaQuia A. Vinson, DDS, MPH
Pediatric Dentistry Residency Program Director
Indiana University/Riley Hospital for Children
Indianapolis, Indiana, United States
Juan F. Yepes, DDS, MD, MPH, MS, DrPH
Indiana University, Riley Hospital for Children
Dental Treatment of Patient with Hypophosphatasia
Introduction:
Hypophosphatasia (HPP) is a progressive hereditary metabolic disorder characterized by defective mineralization of bones and teeth. HPP is caused by mutations in the ALPL (alkaline phosphatase) gene which encodes tissue non-specific alkaline phosphatase (TNSALP). With loss of TNSALP activity, inorganic pyrophosphate is not degraded and phosphate is not produced; as a result, calcium and phosphate cannot bind. Ultimately, hydroxyapatite formation and outgrowth are disrupted resulting in impaired bone mineralization. Manifestations include stillbirth, impaired bone mineralization, and early exfoliation of primary teeth. Disturbances in the formation of cementum and dentin affects tooth attachment to the alveoli. Early diagnosis is important for patients to provide early intervention from both a medical and dental standpoint. Some existing literature has shown that enzyme replacement therapy can improve dental mineralization and aid in stabilization of periodontal tissues and improved root formation.
Case Study:
A 4-year, 5-month-old male presents to the outpatient dental clinic at Riley Hospital for Children for a dental emergency visit. Their parents were concerned of recent early exfoliation of #F. The patient’s medical history is significant for hypophosphatasia. The patient is taking asfotase alfa, an enzyme replacement therapy which is administered subcutaneously 3 times per week; he has no known drug allergies. Early exfoliation of primary teeth began when patient was 2 years old. Intraoral exam reveals primary dentition and premature loss of #F, #N, #O, #P, #Q, as well as significant mobility of #L, #M, and #R. Localized gingival inflammation and periodontitis associated with #R. Clinical caries detected on #E, #, #J, #K and #L. Panoramic radiograph reveals significant mandibular anterior alveolar bone loss and evidence of enamel hypoplasia. A treatment plan was composed to address dental caries and stabilize remaining dentition. This report will include clinical photographs of the patient and radiographic imaging used in treatment planning.