Abstract
BackgroundThe primary purpose of this study was to collect data on the oral health-related quality of life (OHRQoL) of individuals with x-linked hypophosphatemia (XLH). It was also designed to gather information on the period of diagnosis, oral symptoms, orthodontic therapy, and satisfaction with dental care and the healthcare system.MethodsA questionnaire was developed to evaluate the OHRQoL consisting of open-ended questions and the standardised German version of the Oral Health Impact Profile-14 (OHIP-14).ResultsThe questionnaires from 43 participants were analysed, including 32 females (74.41%) and 11 males (25.59%). The mean OHIP-14 total score for the combined genders was 10.30 points (range: 0–37 points). For the combined genders, the mean period of time that elapsed between the first signs of the illness and the diagnosis was 5.52 years (range: 0–49 years). In total, 77.50% of the participants described oral symptoms, such as tooth mineralisation defects (n = 26), abscess or fistula formation (n = 21), dysgnathia (n = 9) and temporomandibular dysfunction (n = 2). The correlation between the participants’ satisfaction with the healthcare system and the OHIP-14 values was weak (− 0.21), and it was not statistically significant (p = 0.199).ConclusionsThe majority of the study participants reported oral involvement in the context of XLH, especially dental hard tissue mineralisation disorders, abscess formation and fistula formation. Those individuals affected by XLH with oral manifestations exhibited a tendency toward a worse OHRQoL than those without oral symptoms. In Germany, the OHIP-14 scores for these XLH patients were worse than those values that were obtained from the general population.
Highlights
The primary purpose of this study was to collect data on the oral health-related quality of life (OHRQoL) of individuals with x-linked hypophosphatemia (XLH)
Rare diseases have been an increased focus of public awareness in the European Union since 2009, when the Council of the European Union asked the Member States to develop plans and strategies in this regard [2]
A rare disease is present for 7 years before it is correctly diagnosed [26], and the oral manifestations can serve as an important indication of the underlying disease [27]
Summary
The primary purpose of this study was to collect data on the oral health-related quality of life (OHRQoL) of individuals with x-linked hypophosphatemia (XLH). X-linked hypophosphatemia (XLH) is the most common form of vitamin D-resistant rickets [3], and with a prevalence of 4.8 cases per 100,000 individuals [4], it is considered to be a rare disease. The most common oral findings are recurrent abscesses and/or fistulas in caries-free teeth in both the primary and permanent dentition phases. The odontoblast function is not restricted, but rather, hypophosphatemia is the cause of the dysplastic and sparsely mineralised circumpulpal dentin, with large areas of interglobular dentin [14]. Enamel hypoplasia is significantly more common in the incisors, canines and first permanent molars in XLH cases than in the premolars and other molars, but overall, this does not appear to be a predominant symptom [15]
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