A recent nationwide dental survey conducted across Japan has unveiled novel oral manifestations of hypophosphatasia (HPP), highlighting significant differences between the odonto and non-odonto types of this inherited skeletal disease. The research, focusing on dentition and occlusion, involved 609 dental clinics and is anticipated to improve awareness and treatment strategies among dental professionals.
Hypophosphatasia, caused by genetic mutations affecting the enzyme tissue-nonspecific alkaline phosphatase, leads to impaired bone mineralization and has various clinical forms. The most recognizable dental symptom includes the premature loss of primary teeth. Previous surveys conducted within Japan indicated dental manifestations frequently serve as the initial indicators of HPP, particularly among milder forms.
Between 2018 and 2022, the survey aimed to elaborate on the clinical expressions associated with HPP by collecting data from participating clinics through questionnaires. Of the 609 invited clinics, 359 (approximately 58.9%) completed the initial questionnaire, reporting 86 cases of HPP encountered over five years. Only clinics with confirmed HPP cases proceeded to provide detailed clinical records, resulting in 103 documented cases from 30 clinics involved.
Significant findings of the survey indicated differing characteristics between the two main HPP subtypes. The survey revealed alarming rates of dental issues, particularly among patients classified as non-odonto types. For example, 40% of these cases exhibited enamel hypomineralization compared to just 8.5% among odonto types, pointing to notable oral health disparities. Malocclusion—a dental condition where teeth are misaligned—was also prevalent, affecting 40% of non-odonto patients compared to their odonto counterparts.
Notably, the incidence of early exfoliation of primary teeth, defined as loss before the age of four, was markedly higher among odonto patients at 91.5% versus 58.2% for non-odonto types. This discrepancy affirms the need for dental practitioners to remain vigilant about the unique signals presented by different subtypes of HPP.
One of the remarkable aspects of this study is the increase in dental visits among HPP patients, attributed to advancements such as enzyme replacement therapy (ERT), which have transformed treatment outcomes significantly. ERT has been shown to improve survival rates, particularly for severe forms of HPP, providing patients and families with access to preventive dental care.
The prevalence of poor oral habits, such as thumb-sucking and tongue thrusting, was also noted to be higher among non-odonto HPP patients (29.1%) compared to only 12.8% of odonto patients. These habits are concerning not only for their immediate dental impact but also for their potential long-term consequences on overall oral health, as dysphagia—difficulty swallowing—was reported more frequently among non-odonto types.
The study emphasizes the fundamental role of dental health professionals within the multidisciplinary care model for managing patients with HPP. Teams comprising healthcare providers need to collaborate closely to address both the medical and dental needs of these patients. "Patients with HPP require multidisciplinary care and the cooperation of dental specialists in diagnostics and treatment," highlighted the authors of the article.
Importantly, the findings suggest the necessity for individualized orthodontic treatment strategies for HPP patients, especially to address issues of malocclusion stemming from primary tooth loss. Current practices suggest the use of partial dentures to maintain space and improve oral functionality, but training and proper management must be adapted to each patient’s unique dental issues.
The necessity for increasing awareness among dental practitioners about the dental manifestations of HPP cannot be overstated. With the number of diagnosed cases on the rise, there is a clear need for enhanced educational initiatives. The combination of medical therapy improvements and increased recognition among dental health providers offers hope for advancing care for individuals with HPP.
Looking forward, the study's authors stress the value of continued research to understand how best to provide integrated dental care for HPP patients. Early detection and treatment are key factors likely to improve quality of life and longevity for those affected, ensuring they receive the comprehensive care they require.