Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration

Abstract

Background. X-linked hypophosphatemia (XLH) is a rare, hereditary, and lifelong phosphate wasting disorder characterized by rickets in childhood and impaired teeth mineralization. In the oral cavity, spontaneous abscesses can often occur without any clinical signs of alteration of the causal tooth. The objective of our study was to evaluate the oral care pathway and the oral health-related quality of life (OHRQoL) of patients followed in an expert oral medicine department located within a Parisian hospital and working in close collaboration with an endocrinology department expert in this pathology. Methods. This study employed a qualitative descriptive design including semi-structured interviews using guiding themes. Results. Twenty-one patients were included in the study. The topics brought up exceeded the initial objectives as the patients mostly addressed the alteration of their oral and general quality of life; a very chaotic oral health care pathway with oral health professionals not aware of their pathology; consequences on their social, professional, and school integration; access to care complicated by financial factors. Patients declared the importance of having a multidisciplinary team around them, including medical and dental professionals.Conclusions. The variety of manifestations in patients with XLH necessitates a high coordination of multidisciplinary patient care to optimize quality of life and reduce disease burden. Oral health care pathways are very chaotic for patients who have difficulty finding professionals with sufficient knowledge of the disease. OHRQoL is therefore diminished. This situation improves when patients enter a coordinated care network.

The International X-Linked Hypophosphataemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

“…Dental conditions could also have been underreported, as dental treatments are typically performed by the participants' dentist, and their records may not have been available for the physician treating the participant's general XLH. Indeed, a survey by Nguyen et al noted that many participants did not receive adequate support for dental conditions and experienced a disorganized care pathway, which may have led to di culties in collection of patient data [27]. The aetiology of dental conditions in XLH is unclear, and the impact of treatment is uncertain.…”

“…This is certainly consistent with the data published by Nguyen et al, who found that dental abscesses were a cause of intense pain, altered smile and problematic chewing -all contributing factors to the reduced quality of life of participants with XLH. This highlights the need for specialized care by dental experts aware of the role of XLH in dental conditions and for early intervention to reduce later complications [27].…”