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

Trawicka, Agnieszka; Lewandowska-Walter, Aleksandra; Majkowicz, Mikołaj; Sabiniewicz, Robert; Woźniak-Mielczarek, Lidia

doi:10.3390/ijerph19116827

Cited by 2 publications

(1 citation statement)

References 29 publications

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“…Previous studies have shown the impact of MFS and its psychological impairment on Quality of Life (QoL) [ 33 – 36 , 39 – 41 ]. However, only one study investigated the OHRQoL in people with MFS in Germany, and the results suggested that people with MFS show a reduced OHRQoL (OHIP-G14: 13.65 ± 13.53 ) compared to the general population [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis

Jenabzadeh,

Bohner,

Köppe

et al. 2024

Head Face Med

View full text Add to dashboard Cite

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Morphological and genetic aspects of Marfan Syndrome as demonstrated by a case of death during pregnancy with the discovery of two de novo missense mutations in the FBN1 gene

Aquila,

Sacco,

Boca

et al. 2023

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Marfan Syndrome (MFS) is an autosomal dominant disease caused in most cases by mutations in the FNB1 gene, which encodes for fibrillin 1. MFS does not alway shows typical phenotypic signs. Indeed, the occurrence of sudden death of unknown cause is increasingly seen in young adults without ante mortem preexisting pathology to explain the event. In many cases the diagnosis of Marfan Syndrome (MFS) is carried out post mortem, especially in cases where the disease’s external phenotype is absent. Here is reported a case of a young woman who died during a twin pregnancy investigated with medico-legal and forensic anthropological procedures. The autopsy showed the absence of a typical marfanoid habitus and the presence of a dissecting aneurysm of the aorta with histopathological degeneration of the aortic elastic fibers. The genetic investigation revealed two previously undetected de novo mutations of the FBN1 gene: c.T6181C: p.C2061R and c.G1415A: p.C472Y. This new mutations, together with a comprehensive analysis, demonstrates the existence of a causal relationship between these mutations and the dissecting aneurysm of the aorta. This also stresses the importance of a combined multidisciplinary approach to this condition which includes morphological and genetic studies.

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

Cited by 2 publications

References 29 publications

Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis

Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis

Morphological and genetic aspects of Marfan Syndrome as demonstrated by a case of death during pregnancy with the discovery of two de novo missense mutations in the FBN1 gene

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