Quality of life in patients with Marfan syndrome: a cross-sectional study of 102 adult patients

Andonian, Caroline; Freilinger, Sebastian; Achenbach, Susanne; Ewert, Peter; Gundlach, Ulrike; Kaemmerer, Harald; Nagdyman, Nicole; Neidenbach, Rhoia; Pieper, Lars; Schelling, Jörg; Weyand, Michael; Beckmann, Jürgen

doi:10.21037/cdt-20-692

Cited by 9 publications

(9 citation statements)

References 32 publications

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“…Peters et al also reported significant depressive symptoms in over 40% of an MFS cohort [ 31 ]. The results of other studies showed similar impairments in MFS regarding anxiety, depression, mental fatigue, and other psychiatric symptoms [ 30 , 32 – 36 ]. Our data show that TMD symptoms may be associated with psychological impairment.…”

Section: Discussionsupporting

confidence: 68%

Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis

Jenabzadeh,

Bohner,

Köppe

et al. 2024

Head Face Med

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Background This study aims to analyze to what extent patients with Marfan syndrome (MFS) are affected by temporomandibular disorders (TMD) and its impact on oral health-related quality of life (OHRQoL). To collect data, an online questionnaire was created to recruit participants from Germany, Austria, and Switzerland through social media and support groups. The questionnaire consists of free-text questions, the German versions of the Oral Health Impact Profile (OHIP-G14), the Depression Anxiety Stress Scale (DASS), and the Graded Chronic Pain Status (GCPS). Results A total of 76 participants with diagnosed MFS were included. Of these, 65.8% showed TMD symptoms, the most common being pain or stiffness of the masticatory muscles in the jaw angle (50.0%). Only 14.5% of the participants were already diagnosed with TMD. Of the participants with an increased likelihood of a depression disorder, 76.9% showed TMD symptoms. Of those with a critical score for an anxiety disorder, 90.9% showed TMD symptoms. 73.3% of participants with TMD symptoms reached the critical score for a stress disorder. TMD symptoms were associated with a higher risk for chronic pain. In the median, participants with TMD showed statistically notably higher OHIP-G14 scores than participants without TMD (11.5 [IQR 17] vs. 1 [IQR 3] points, p ≤ 0.001). Conclusion TMD symptoms had a noticeable impact on OHRQoL in patients with MFS, i.e., chronic pain and psychological impairment. TMD seems underdiagnosed, and more research is needed to prevent the associated chronification of pain and psychological burden to improve the OHRQoL.

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Section: Discussionsupporting

confidence: 68%

Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis

Jenabzadeh,

Bohner,

Köppe

et al. 2024

Head Face Med

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“…While comparing the obtained results to other reports, it can be stated that they are in accordance with those presented by Rand-Hendriksen et al [ 17 ], in which people with Marfan syndrome have lowered results on all the sub-scales concerning physical health, but also by Goldfinger et al [ 11 ], as well as by Benninghoven et al [ 8 ], where physical functioning was lowered in comparison with the general population. A greater risk of impaired quality of life in patients with Marfan syndrome has also been confirmed by cross-sectional studies by Andonian et al [ 26 ].…”

Section: Discussionmentioning

confidence: 61%

Health-Related Quality of Life of Patients with Marfan Syndrome—Polish Study

Trawicka

Lewandowska-Walter

Majkowicz

et al. 2022

IJERPH

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Background: Despite extensive knowledge about the quality of life of people suffering from rare diseases, data on patients with Marfan syndrome (MFS) are scarce and inconsistent. Hence, the problem of assessing the quality of life (QOL) and its relationship with the assessment of which ailments are the most burdensome for these patients is still open. Aim: Comparison of the quality of life of patients with MFS and determination as to which of the reported complaints in patients with MFS are related to the QOL of patients. Methods: The study included 35 patients with MFS and 35 healthy controls, matched for gender and age. In the study, the questionnaire of quality of life assessment SF-36 was used to assess the level of health-related quality of life, as well as an interview of the most severe symptoms reported by patients with MFS. Results: The level of the physical dimension of the QOL (p < 0.001) and limiting of roles due to physical health (p = 0.002), as well as the level of general index of the QOL (p < 0.001), were statistically significantly lower in MFS patients when compared to controls. People from both studied groups do not vary in the scope of pain, vitality, social functioning, limiting the roles due to emotional problems, and state of mind but also in the mental dimension of the health-related quality of life (HRQL). Additionally, there has been a correlation between HRQL and the subjective assessment of the effects of orthopedic, ophthalmic, and cardiological problems in life, as well as lower exercise tolerance in the evaluation of people with MFS and QOL in most areas. Conclusions: Patients with MFS present a reduced QOL in the areas of physical functioning, limiting roles due to physical health, general feeling of general health, the physical dimension of the HRQL, and the general index of the QOL; in these areas, they require careful evaluation, as well as medical and psychosocial assistance.

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“…Primary complaints contributing to lowered QoL in this patient population include pain, mobility issues, fatigue, and anxiety/depression. 19,[28][29][30] Understanding how MFS affects the vascular system over time will help clinical scientists and clinicians design more effective preventive and therapeutic approaches, particularly for aging MFS patients at higher risk for vascular complications. Few studies have addressed this vascular aging-associated phenotype in MFS mice.…”

Section: Discussionmentioning

confidence: 99%

In VivoPhenotypic Vascular Dysfunction Extends Beyond the Aorta in a Mouse Model for Fibrillin-1 (FBN1) Mutation

Curry,

Barrameda,

Currier Thomas

et al. 2023

Preprint

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In individuals with Marfan Syndrome (MFS), fibrillin-1 gene (FBN1) mutations can lead to vascular wall weakening and dysfunction. The experimental mouse model of MFS (FBN1C1041G/+) has been advantageous in investigating MFS-associated life-threatening aortic aneurysms. Although the MFS mouse model presents an accelerated-aging phenotype in elastic organs (e.g., lung, skin), the impact ofFBN1mutations on other central and peripheral arteries function and structure with the consideration of the impact of sex remains underexplored. In this study, we investigate ifFBN1mutation contributes to sex-dependent alterations in central and cerebral vascular function similar to phenotypic changes associated with normal aging in healthy control mice.In vivoultrasound imaging of central and cerebral vasculature was performed in 6-month-old male and female MFS and C57BL/6 mice and sex-matched 12-month-old (middle-aged) healthy control mice. Our findings confirm aortic enlargement (aneurysm) and wall stiffness in MFS mice, but with exacerbation in male diameters. Coronary artery blood flow velocity (BFV) in diastole was not different but left pulmonary artery BFV was decreased in MFS and 12-month-old control mice regardless of sex. At 6 months of age, MFS male mice show decreased posterior cerebral artery BFV as compared to age-matched control males, with no difference observed between female cohorts. Reduced mitral valve early-filling velocities were indicated in MFS mice regardless of sex. Male MFS mice also demonstrated left ventricular hypertrophy. Overall, these results underscore the significance of biological sex in vascular function and structure in MFS mice, while highlighting a trend of pre-mature vascular aging phenotype in MFS mice that is comparable to phenotypes observed in older healthy controls.

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Quality of life in patients with Marfan syndrome: a cross-sectional study of 102 adult patients

Cited by 9 publications

References 32 publications

Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis

Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis

Health-Related Quality of Life of Patients with Marfan Syndrome—Polish Study

In VivoPhenotypic Vascular Dysfunction Extends Beyond the Aorta in a Mouse Model for Fibrillin-1 (FBN1) Mutation

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