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Advances in understanding, diagnosis and targeting ATTR cardiomyopathy: a review

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Kulak M., Lang M., Waśniewski M., Lange N.
European Journal of Translational and Clinical Medicine
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2024
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vol. 7
|
issue 1
63-78
EN
Transthyretin amyloidosis (ATTR) manifests as wild-type (ATTRwt) and hereditary/mutant (ATTRv) forms and can lead to heart failure due to cardiac amyloidopathy. Diagnosing ATTR, particularly in asymptomatic carriers of pathogenic variants, remains challenging despite the advances. Complex and multi-aspect management involves a limited range of well-examined conventional therapies to address the heart failure and frequently coexisting arrhythmias and valvular issues. Disease-modifying treatment, RNA-based treatments, CRISPR-Cas9 gene editing and monoclonal antibodies targeting amyloid deposits are recent and promising innovations. This review explores the diagnostic intricacies, therapeutic dilemmas and emerging solutions in ATTR cardiomyopathy. The significance of early detection and precise, targeted approaches to enhance patient outcomes is underscored.
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Edmonton Frail Scale – caregiver is a reliable source of information about the functional status of a hospitalized elderly patient

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Stolc B., Kleczewska A., Kulak M., Mierzejewska M., Łyczek W., Zęgota T., Wierzba K.
European Journal of Translational and Clinical Medicine
|
2023
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vol. 7
|
issue 1
16-21
EN
Background The success of geriatric care requires cooperation with the patient’s relatives. This study aims to compare the perspectives of elderly patients and their caregivers on functional efficiency, as measured by the Edmonton Frail Scale. By examining the discrepancies in these assessments, we hope to better understand perceptions of frailty-related functional limitations and improve the personalized approaches in geriatric care. Material and methods This cross-sectional study enrolled a sample of hospitalized patients, based on availability of researchers. Exclusion criteria involved: age < 65, communication barriers, manual disability, exacerbation of a chronic disease or acute condition, no contact to the caregiver, lack of consent. The McNemar-Bowker test and the Wilcoxon signed-rank test were used to compare patients’ and their caregivers’ responses. Results Forty five patients were enrolled. The answers concerning cognitive functions, laundry, and functional performance were statistically different (P < 0.001). Whereas after applying the Holm-Bonferroni method for multiple testing only the judgment of cognitive functions remained statistically different. Other domains showed no statistical differences. Conclusions Our results may in general confirm the credibility of caregivers’ perspective in the patients’ functional assessment.
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