Health-related quality of life in patients with primary cutaneous amyloidosis.
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ABSTRACT:
SUBMITTER: Fang S
PROVIDER: S-EPMC4370430 | biostudies-other | 2015
REPOSITORIES: biostudies-other
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Project description:BackgroundLight chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality of life. This study aimed to quantify the burden of AL amyloidosis in terms of health-related quality of life in a diverse, community-based sample of AL amyloidosis patients.ResultsThe SF-36v2® Health Survey (SF-36v2), a widely used generic measure of health-related quality of life (using physical and mental summary scales and subscales assessing eight aspects of functioning and well-being), was administered as an online survey of AL amyloidosis patients with AL amyloidosis (ClinicalTrials.gov, NCT02574676 ; n = 341). Compared with adjusted general population sample norms, health-related quality of life of AL amyloidosis patients was significantly worse across all SF-36v2 scales and summary measures based on analysis of variance (p < 0.05 for all). The largest decrement in AL amyloidosis patients was related to General Health (Δ = 9.7; p < 0.001). With the exception of Bodily Pain and Mental Health, differences were also clinically meaningful based on established clinically minimal important differences. The burden of AL amyloidosis overall and in key subgroups tended to be greater on physical health than on mental health. Stratified analyses indicated additional burden among patients with recently diagnosed disease and those with cardiac involvement than among their respective counterparts.ConclusionUnderstanding the burden of AL amyloidosis highlights the unmet need for treatment, helps physicians identify ancillary treatments and services geared towards improving patients' functioning, well-being, and overall health-related quality of life. These findings also help to support the use of health-related quality of life end points as important outcome measures in current and future treatment studies.Trial registrationClinicalTrials.gov, NCT02574676 . Registered October 5, 2015.
| S-EPMC5244523 | biostudies-literature
Project description:Light chain (AL) amyloidosis is a rare disease associated with significant, irreversible organ dysfunction and high case fatality. An observational study was conducted to assess health-related quality of life (HRQoL) in patients treated for AL amyloidosis between 1994 and 2014 with both high dose melphalan and stem cell transplantation (HDM/SCT) or non-SCT chemotherapy regimens. The SF-36v1® Health Survey (SF-36) was administered to assess HRQoL during clinic visits. Analysis of variance was used to compare pre- and post-treatment HRQoL within each treatment group to an age- and gender-adjusted general population (GP) normative sample. Cox proportional hazard models were fit to examine associations between pre-treatment levels of HRQoL and mortality within 1 and 5 years after initiating specific treatment regimens (HDM/SCT: n = 402; non-SCT chemotherapy regimens: n = 172). Among patients who received HDM/SCT, there were significant improvements following treatment in vitality, social functioning, role-emotional and mental health. Worse pre-treatment SF-36 physical component scores were associated with a greater risk of mortality in both treatment groups and follow-up periods (P ≤ 0·005 for both). [Correction added on 20 October 2017, after first online publication: This P value has been corrected]. Using HRQoL assessments in every physician visit or treatment may provide valuable insights for treating rare conditions like AL amyloidosis.
| S-EPMC5697591 | biostudies-literature
Project description:BACKGROUND:Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities. In this study, we aimed to assess the effect of the disease across health-related quality of life dimensions, in both carriers of the mutation and patients, to compare health-related quality of life with general population, as well as to explore health-related quality of life prognostic factors among patients, including disease progression and treatment. METHODS:This study was a multi-institutional, longitudinal, prospective, observational study of hereditary Transthyretin Amyloidosis Polyneuropathy Portuguese adult subjects (621 asymptomatic carriers and 733 symptomatic patients) enrolled in the Transthyretin Amyloidosis Outcomes Survey. Health-related quality of life was captured with the preference-based instrument EQ-5D-3?L. For general population the dataset included all subjects enrolled in a representative national study (n?=?1500). Different econometric models were specified; multivariate probit, generalized linear model and generalized estimating equations model; including demographic and clinical covariates. RESULTS:Hereditary Transthyretin Amyloidosis Polyneuropathy patients have their health status severely impaired in all quality of life dimensions and more anxiety/depression problems were found among asymptomatic carriers. No differences on utility were found between carriers and general population (p?=?0.209). Among patients, the utility value is estimated to be 0.51 (0.021), a decrement of 0.27 as compared with general population utility. Higher disease duration, advanced disease stage and not receiving treatment are associated with impaired health-related quality of life. No differences were found between genders (p?=?0.910) or between late (?50?years) and early-onset patients (p?=?0.254). The utility estimate ranged from 0.63 (0.009) in stage I to 0.01 (0.005) in stage IV. CONCLUSIONS:Hereditary Transthyretin Amyloidosis Polyneuropathy symptoms and progressive associated disabilities substantially decrease patient's health-related quality of life. Clinical strategies focused on health-related quality of life preservation such as close follow-up of asymptomatic carriers, prompt diagnosis and adequate, early treatment would benefit patient's long-term outcomes, slowing the progressive decline in health-related quality of life.
| S-EPMC7060628 | biostudies-literature
Project description:Systemic AL (light chain) amyloidosis is a rare protein misfolding disorder associated with plasma cell dyscrasia affecting various organs leading to organ dysfunction and failure. The Amyloidosis Forum is a public-private partnership between the Amyloidosis Research Consortium and the US Food and Drug Administration Center for Drug Evaluation and Research with the goal of accelerating the development of effective treatments for AL amyloidosis. In recognition of this goal, 6 individual working groups were formed to identify and/or provide recommendations related to various aspects of patient-relevant clinical trial endpoints. This review summarizes the methods, findings, and recommendations of the Health-Related Quality of Life (HRQOL) Working Group. The HRQOL Working Group sought to identify existing patient-reported outcome (PRO) assessments of HRQOL for use in clinical trials and practice deemed relevant across a broad spectrum of patients with AL amyloidosis. A systematic review of the AL amyloidosis literature identified 1) additional signs/symptoms not currently part of an existing conceptual model, and 2) relevant PRO instruments used to measure HRQOL. The Working Group mapped content from each identified instrument to areas of impact in the conceptual model to determine which instrument(s) provide coverage of relevant concepts. The SF-36v2® Health Survey (SF-36v2; QualityMetric Incorporated, LLC) and Patient-Reported Outcomes Measurement Information System-29 Profile (PROMIS-29; HealthMeasures) were identified as instruments relevant to patients with AL amyloidosis. Existing evidence of reliability and validity was evaluated with a recommendation for future work focused on estimating clinically meaningful within-patient change thresholds for these instruments. For sponsors, the context of use-including specific research objectives, trial population, and investigational product under study-should inherently drive selection of the appropriate PRO instrument and endpoint definitions to detect meaningful change and enable patient-focused drug development.
| S-EPMC10202704 | biostudies-literature
Project description:Background and aimsPrimary biliary cholangitis (PBC) is a chronic liver disease that negatively affects the health-related quality of life (HRQoL) of patients. Furthermore, the HRQoL of Chinese patients has been neglected for a long time. The present study aimed to assess the HRQoL of Chinese patients with PBC and explore the clinical variables correlating to the improvement of itch and fatigue.MethodsThis was an observational, cross-sectional study. The PBC-40 and itch numerical rating scales were used to evaluate the symptoms and HRQoL of patients.ResultsA total of 383 patients were recruited, and 86.4% were female, with a median age of 55 years (range: 49-63 years). We found that females had significantly higher scores than males in symptoms (p=0.033) and cognitive domains (p=0.021), and the fatigue domain was higher in elderly patients (p=0.007). Meanwhile, patients whose body mass index was <18.5 had the highest scores in the symptoms (p=0.009), fatigue (p=0.010), and cognitive (p=0.019) domains. Age at participation (odds ratio [OR]=1.068, p=0.015) and albumin level at 12 months after ursodeoxycholic acid treatment (OR=208.807, p=0.025) were independent factors that affected the improvement of the itch and fatigue domains, respectively.ConclusionsThe HRQoL of Chinese patients with PBC was significantly impaired depending on sex, age, and body mass index. Age and albumin level were significantly associated with the improvement of itch and fatigue, respectively. Therefore, treatment and support aimed at these two factors can be provided to improve the HRQoL of patients.
| S-EPMC8666377 | biostudies-literature
Project description:Primary cutaneous amyloidosis (PCA) is a localized skin disorder that is characterized by the abnormal deposition of amyloid in the extracellular matrix (ECM) of the dermis. The pathogenesis of PCA is poorly understood. The objective of the present study was to survey proteome changes in PCA lesions in order to gain insight into the molecular basis and pathogenesis of PCA. Total protein from PCA lesions and normal skin tissue samples were extracted and analyzed using the isobaric tags for relative and absolute quantitation technique. The function of differentially expressed proteins in PCA were analyzed by gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) and protein-protein interaction analysis. The proteins that were most upregulated in PCA lesions were further analyzed by immunohistochemistry. A total of 1,032 proteins were identified in PCA lesions and control skin samples, with 51 proteins differentially expressed in PCA lesions, of which 27 were upregulated. In PCA lesions, the upregulated proteins were primarily extracellulary located. In addition, GO analysis indicated that the upregulated proteins were significantly enriched in the biological processes of epidermal development, collagen fiber organization and response to wounding (adjusted P<0.001). KEGG analysis indicated that the upregulated proteins were significantly enriched in the signaling pathways of cell communication, ECM receptor interaction and focal adhesion (adjusted P<0.001). Furthermore, the upregulated proteins were enriched in the molecular function of calcium ion binding, and the calcium binding proteins calmodulin-like protein 5, S100 calcium-binding protein A7 (S100A7)/fatty-acid binding protein and S100A8/A9 exhibited the highest levels of upregulation in PCA. This analysis of differentially expressed proteins in PCA suggests that increased focal adhesion, differentiation and wound healing is associated with the pathogenesis of PCA.
| S-EPMC5585729 | biostudies-literature
Project description:BackgroundDialysis-related amyloidosis (DRA) commonly develops in patients undergoing long-term dialysis and can lead to a decline in activities of daily living and quality of life (QOL), mainly owing to orthopedic complications.MethodsFirst, we determined utility scores of the EuroQol 5-Dimensions 3-Levels (EQ-5D-3L) questionnaire in 1,323 patients with DRA who had undergone dialysis for more than 10 years and compared the score between those with and without DRA. Second, a 2-year follow-up was also performed, in which patients were divided into three groups: those complicated by DRA from the beginning, those with newly developed DRA within the 2-year period, and those not complicated by DRA throughout the survey period; changes in the EQ-5D-3L utility score were compared. In the group already complicated by DRA at the survey baseline, changes in the EQ-5D-3L utility score were compared according to the dialysis treatment method.ResultsA total of 1,314 and 931 patients were included in the first and second studies, respectively. EQ-5D-3L utility scores among patients diagnosed with DRA were significantly lower than scores in those not diagnosed with DRA. The reduction in the EQ-5D-3L utility score over the 2-year follow-up was significantly greater in patients newly complicated by DRA during the follow-up period after enrollment but not in those complicated by DRA from the beginning, as compared with patients not complicated by DRA throughout the survey period. The reduction in utility score tended to be lower in patients routinely treated with a β2-microglobulin adsorption column than in untreated patients with DRA.ConclusionComplication by DRA in patients undergoing long-term hemodialysis was significantly associated with a decline in QOL.
| S-EPMC8384206 | biostudies-literature
Project description:BACKGROUND:Health-related quality of life (HRQL) is an important outcome for chronic diseases such as diabetes mellitus that is associated with complications, comorbidities, and lifelong care. OBJECTIVES:The present study aims to explore the impact of comorbidities on the different dimensions of HRQL among type 2 diabetic patients attending primary care. METHODS:A total of 912 type 2 diabetic patients attending primary care centers in India were assessed using a predesigned and pretested questionnaire - Diabetes Comorbidity Evaluation Tool in Primary Care. The HRQL was measured by physical and mental health summary scores [physical component summary (PCS) and mental component summary (MCS)] of the Short Form Health Survey 12. The associations of sociodemographic variables and clinical variables with PCS and MCS were assessed, and a minimal difference of 5 in the scores (on a scale of 0-100) was kept as clinically relevant difference for this study. Mean differences in mental (MCS) and physical (PCS) scores of quality of life by number and type of comorbid conditions in type 2 diabetic patients were calculated. RESULT:The presence of comorbid conditions was associated with lower scores of PCS and MCS (P < 0.001). Significant reduction in HRQL was found with increase in number of comorbid conditions, and negative association was established between the number of comorbidities and the PCS (r = -0.25, P < 0.0001) and MCS scores (r = -0.21, P < 0.0001). Among comorbidities, acid peptic disease, chronic lung disease, visual impairment, depression, and stroke had significantly and clinically relevant reduced scores. Duration of diabetes, use of insulin, and obesity were also associated with poor HRQL. CONCLUSION:Comorbidities considerably impair the HRQL among type 2 diabetic patients. National programs designed for diabetes management should also take into account the challenges of coexisting chronic conditions and its substantial effect on HRQL.
| S-EPMC7137353 | biostudies-literature
Project description:BackgroundCommon variable immunodeficiency (CVID) and other primary antibody deficiencies (PAD) are a heterogeneous group of >?300 congenital disorders affecting the immune system. Until recently, efforts to measure health-related quality of life (QoL) in PAD patients have utilised generic QoL tools and disease-specific tools for other conditions. Still, the full impact of the disease is probably not understood. We evaluated the performance of the CVID_QoL, a novel disease-specific QoL instrument for adults with CVID, on Norwegian PAD patients and compared the results to those of the generic WHOQOL-BREF.MethodsRespondents were recruited through the Norwegian Centre for Rare Disorders' patient database. Included patients fulfilled the following criteria (all three): 1.) Age ?18 years, 2.) a PAD diagnosis, 3.) currently on immunoglobulin therapy. The CVID_QoL is a 32-item questionnaire. Global CVID_QoL scores were compared between Norwegian PAD patients and Italian CVID patients.ResultsIn total, 83 PAD patients filled out the CVID_QoL, 63% had CVID, 76% were females. 32 patients filled out the WHOQOL-BREF. Feasibility was high (<1% missing). Internal consistency for the emotional- (Cronbach's ?-value = 0.91) and relational functioning (? = 0.77) subscales was high, but questionable for the gastrointestinal and skin symptoms subscale (? = 0.66). Convergent validity varied from weak to strong (range 0.3-0.8). Floor and ceiling effects were present.ConclusionsAlthough many disease-specific characteristics are probably shared with CVID and other PAD, the CVID_QoL captures some, but not all, dimensions of PAD patients' QoL. More evaluations of the CVID_QoL's performance in different contexts are needed.
| S-EPMC6391500 | biostudies-literature
Project description:BackgroundCutaneous leishmaniasis (CL) is a growing public health threat in Ethiopia. Leishmania aethiopica is the predominant causative organism. Affected individuals develop chronic skin lesions on exposed parts of the body, mostly on the face, which are disfiguring and cause scarring. The effects of CL on the health-related quality of life (HRQoL) of affected individuals has not been assessed in Ethiopia.ObjectiveTo assess HRQoL in adults with active CL at ALERT Hospital, Addis Ababa, Ethiopia.MethodsA cross-sectional study was done using the Amharic version of the Dermatology Life Quality Index (DLQI). Trained health staff administered the DLQI.ResultsThree hundred and two adults with active CL participated and all of them exhibited a reduced HRQoL. The median DLQI score was 10 (IQR 8). Almost half of the participants reported very poor HRQoL, 36.4% and 11.3% fell within the very large and extremely large effect categories respectively. DLQI scores were higher (median 18) in patients diagnosed with diffuse cutaneous leishmaniasis (DCL) compared to those with localized cutaneous leishmaniasis (LCL). The DLQI domain of 'work and school' was the most affected, scoring 73.3% and 66.6% of total possible score for female and male respectively, followed by that of 'symptom and feeling' (at 50.0% and 56.6% for female and male respectively). Men were more affected than women in the domains of 'leisure' (P = 0.002) and 'personal relationships' (P = 0.001). In the multivariate ordinal logistic regression site of lesion, clinical phenotype and age of participant remained associated with significantly poor HRQoL.ConclusionThe HRQoL impairment associated with CL is significant. Thus, patient-reported outcome measure should be used to assess the efficacy of treatments along with clinical outcome measures.
| S-EPMC10645367 | biostudies-literature