The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease

Sigurðardóttir, Sólrún; Bjerkely, Birgitte L.; Jenssen, Trond; Mathisen, Per; Lippe, Charlotte von der; Ørstavik, Kristin; Heimdal, Ketil; Dahle, Dag Olav; Weedon-Fekjær, M.S.; Solberg, Olga; Pihlstrøm, Hege

doi:10.1186/s13023-021-02066-y

Cited by 5 publications

(6 citation statements)

References 47 publications

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“…Regarding the effects of age on QOL, QOL appeared to gradually deteriorate with increasing age (22). This finding is remarkably similar to other studies which have shown a continuing decline in QOL with disease progression over time (9,14,31). Negative changes occurred especially in the domains of physical and social functioning indicating difficulties in physical health and personal relationships (31).…”

Section: Correlates Of Qol In Patients With Fdsupporting

confidence: 91%

“…This finding is remarkably similar to other studies which have shown a continuing decline in QOL with disease progression over time (9,14,31). Negative changes occurred especially in the domains of physical and social functioning indicating difficulties in physical health and personal relationships (31). It is therefore conceivable, that QOL scores in older patients reflect disease burden, rather than an association of age alone (14,31).…”

Section: Correlates Of Qol In Patients With Fdsupporting

confidence: 89%

“…Negative changes occurred especially in the domains of physical and social functioning indicating difficulties in physical health and personal relationships (31). It is therefore conceivable, that QOL scores in older patients reflect disease burden, rather than an association of age alone (14,31). Clinicians should be encouraged to detect and target their patients' physical and mental health, as well as social participation in order to maintain and preserve an acceptable QOL as long as possible.…”

Section: Correlates Of Qol In Patients With Fdmentioning

confidence: 99%

“…Anecdotal evidence points towards a high prevalence of difficulties in performing daily activities, keeping a full-time job and adhering to medical regimens despite adverse health effects (36). Impairment on this dimension might be attributed to verified neuropsychological symptoms, such as reduced executive functioning (i.e., verbal generation, reasoning, problem solving), slower information processing, and attention deficit disorders (31,32). Laney et al showed that FD patients were further affected by decreased socialadaptive functioning referred to as the effectiveness with which an individual copes with daily demands and responsibilities as parents, caregivers, or employees (36).…”

Section: Usual Activities (Ie Work Study Housework Family or Leisure ...mentioning

confidence: 99%

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Quality of life in patients with Fabry’s disease: a cross-sectional study of 86 adults

Andonian¹,

Beckmann²,

Mayer³

et al. 2022

Cardiovasc Diagn Ther

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Background: Fabry disease (FD) is a multi-organ disorder associated with severe physical and psychological impairments, particularly in adulthood. To date, comprehensive data on the psychological burden of FD are lacking. The present study assessed quality of life (QOL) in a representative cohort of adults with FD.Methods: Patient-reported outcome measures were retrospectively analyzed in 86 adults with FD (49.6± 16.6 years; 62.8% female) and compared to adults with congenital heart defects (ACHD) which is another lifelong disease and affliction. QOL was assessed using the European Quality of Life 5 Dimensions 5 Levels questionnaire (EQ-5D-5L).Results: Subjects affected by FD reported an overall reduced QOL (EQ-VAS: 71.8±20.0). Most frequently reported complaints occurred within the dimensions pain/discomfort (69.7%), daily activities (48.9%) and anxiety/depression (45.4%). Compared to ACHD, individuals with FD scored significantly lower in the areas of pain/discomfort, usual activities and mobility (all P<0.05). Older age and female sex were particularly associated with diminished QOL (P=0.05).Conclusions: Patients with FD are at high risk for impaired QOL. They require additional support to cope with disease-related challenges. Increased attention should be directed towards improving their subjective well-being to potentially increase their QOL and long-term health outcomes.

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Section: Correlates Of Qol In Patients With Fdsupporting

confidence: 91%

Section: Correlates Of Qol In Patients With Fdsupporting

confidence: 89%

Section: Correlates Of Qol In Patients With Fdmentioning

confidence: 99%

Section: Usual Activities (Ie Work Study Housework Family or Leisure ...mentioning

confidence: 99%

See 2 more Smart Citations

Quality of life in patients with Fabry’s disease: a cross-sectional study of 86 adults

Andonian¹,

Beckmann²,

Mayer³

et al. 2022

Cardiovasc Diagn Ther

View full text Add to dashboard Cite

show abstract

“…A fourth study by Sigurdardottir and colleagues found that SF-36 scores remained unchanged over a 7–13-year follow-up in a mixed population of male and female patients receiving ERT or chaperone or neither therapy. However, this study did not assess the effect of therapy on SF-36 score [ 43 ].…”

Section: Resultsmentioning

confidence: 99%

A systematic literature review on the health-related quality of life and economic burden of Fabry disease

Jovanovic,

Miller-Hodges,

Castriota

et al. 2024

Orphanet J Rare Dis

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Background Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to characterize the humanistic (quality of life [QoL]) and economic burden of FD. Methods Searches were conducted in the Embase, MEDLINE®, and MEDLINE® In-Process databases from inception to January 19, 2022. Conference abstracts of specified congresses were manually searched. Additional searches were performed in the Cochrane and ProQuest databases for the humanistic SLR and the National Health Service Economic Evaluations Database for the economic SLR. Studies of patients with FD of any sex, race, and age, and published in the English language were included. There was no restriction on intervention or comparator. For the humanistic SLR, studies that reported utility data, database/registry-based studies, questionnaires/surveys, and cohort studies were included. For the economic SLR, studies reporting economic evaluations or assessing the cost of illness and resource use were included. Results Of the 1363 records identified in the humanistic search, 36 studies were included. The most commonly used QoL assessments were the 36-item Short-Form Health Survey (n = 16), EQ-5D questionnaire descriptive system or visual analog scale (n = 9), and the Brief Pain Inventory (n = 8). Reduced QoL was reported in patients with FD compared with healthy populations across multiple domains, including pain, physical functioning, and depressive symptoms. Multiple variables—including sex, age, disease severity, and treatment status—impacted QoL. Of the 711 records identified in the economic burden search, 18 studies were included. FD was associated with high cost and healthcare resource use. Contributors to the cost burden included enzyme replacement therapy, healthcare, and social care. In the seven studies that reported health utility values, lower utility scores were generally associated with more complications (including cardiac, renal, and cerebrovascular morbidities) and with classical disease in males. Conclusion FD remains associated with a high cost and healthcare resource use burden, and reduced QoL compared with healthy populations. Integrating information from QoL and economic assessments may help to identify interventions that are likely to be of most value to patients with FD.

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Sex differences in neuromuscular disorders

Vinciguerra

Iacono

Bevilacqua

et al. 2023

Mechanisms of Ageing and Development

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The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease

Cited by 5 publications

References 47 publications

Quality of life in patients with Fabry’s disease: a cross-sectional study of 86 adults

Quality of life in patients with Fabry’s disease: a cross-sectional study of 86 adults

A systematic literature review on the health-related quality of life and economic burden of Fabry disease

Sex differences in neuromuscular disorders

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