Oral Health-Related Quality of Life in People with Rare Hereditary Connective Tissue Disorders: Marfan Syndrome

Abstract

Background: The aim of this study was to analyze data on oral health-related quality of life (OHRQoL) in people with Marfan syndrome and to obtain information on the diagnosis period, orthodontic treatment, and oral symptoms. Methods: A questionnaire was developed consisting of open questions and the standardized German version of the OHIP-14 (Oral Health Impact Profile) questionnaire for the evaluation of OHRQoL. The age of diagnosis, time period from the first signs of the disease to diagnosis, and OHIP-values were compared between male and female participants. Additionally, the OHIP-values between participants who were orthodontically treated and those who were not treated were assessed. The statistical analysis was performed using the Mann–Whitney test with a significance level at p = 0.05. Results: A total of 51 questionnaires were evaluated, which included 34 female and 17 male participants. Overall, 84% of respondents reported oral symptoms. Male respondents tended to diagnose the disease earlier (p = 0.00), with a smaller period between the first symptom and the diagnosis (p = 0.04). The OHIP-14 score was gender-neutral at 13.65 ± 13.53 points. Conclusion: In Marfan syndrome, many years (12.01 ± 11.61) elapse between the onset of first symptoms and correct diagnosis of the disease. People with Marfan syndrome have a worse OHRQoL than do the general population.

Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study

“…Of note, most of the unaffected family members included in this study were adult females (81.3%), which may be seen as a limitation for the comparison with the affected group. However, based on the literature, OHIP-14 has been extensively reported to be gender-neutral for both the general population [4] and patients with other rare connective tissue disorders [8–11]. Moreover, as shown above, both gender and age were found to have no significant effect on OHIP-14 scores in the cohort of patients with LDS.…”

“…Rare diseases have a negative impact on general health-related quality of life for patients [21]. Several studies suggest that rare diseases can also have an undesirable impact on the oral health-related quality of life due to associated abnormal dental and craniofacial findings [8–11, 22–24]. Our study demonstrates for the first time that patients with LDS have worse OHRQoL when compared to both unaffected family members and the general U.S. population [4].…”

“…The validity and reliability of this measure are well-established and have been described and utilized in numerous studies [4–7]. Previous studies have shown that rare connective tissue disorders such as Marfan syndrome, osteogenesis imperfecta (OI), Ehlers–Danlos syndrome and other rare orofacial diseases exhibit oral manifestations and alteration of craniofacial development that appear to negatively impact OHRQoL [8–11].…”

Self-Assessment of Oral Health-Related Quality of Life in People with Ectodermal Dysplasia in Germany

“…The study design used in this study has already been described in previous works [15,16,17]. The study was designed as a cross-sectional questionnaire cohort study in people with ectodermal dysplasia to evaluate their respective OHRQoL.…”

“…Our research group showed previously that the oral health-related quality of life (OHRQoL) is affected by rare diseases presenting oral manifestations [14,15,16,17].…”