Cystic fibrosis (CF) is a life-shortening condition with no cure. Available therapies relieving the symptoms of CF are complex and time-consuming. A comprehensive review assessing adherence to different CF therapies, association of adherence with outcomes, and factors influencing adherence could inform optimal patient management strategies. Areas covered: A targeted literature review of studies published from 2010-2016 assessed adherence to CF therapies. Nineteen studies qualified for inclusion. Adherence to CF therapies was sub-optimal, and varied by treatment, mode of treatment administration, age, season, time and method of adherence measurement. Adherence to ivacaftor and inhaled antibiotics were reported higher than dornase alfa or hypertonic saline, oral pancreatic enzyme and vitamin supplements, and airway clearance therapy. Several patient, healthcare provider and treatment related factors influenced adherence. Sub-optimal adherence was shown to impact clinical and economic burden of the disease. Expert commentary: Higher adherence to CF therapies can lower disease burden, and improve patient outcomes. Healthcare providers and policy makers should devise patient-centered and caregiver-enabled interventions to improve adherence. Research on long-term adherence and outcomes associated with promising oral treatments such as CFTR modulators is needed. Identifying ways to overcome key barriers to adherence can positively affect outcomes associated with CF.
Background & aimsAbdominal symptoms (AS) are a hallmark of the multiorgan-disease cystic fibrosis (CF). However, the abdominal involvement in CF is insufficiently understood and, compared to the pulmonary manifestation, still receives little scientific attention. Aims were to assess and quantify AS and to relate them to laboratory parameters, clinical findings, and medical history.MethodsA total of 131 patients with CF of all ages were assessed with a new CF-specific questionnaire (JenAbdomen-CF score 1.0) on abdominal pain and non-pain symptoms, disorders of appetite, eating, and bowel movements as well as symptom-related quality of life. Results were metrically dimensioned and related to abdominal manifestations, history of surgery, P. aeruginosa and S. aureus colonization, genotype, liver enzymes, antibiotic therapy, lung function, and nutritional status.ResultsAS during the preceding 3 months were reported by all of our patients. Most common were lack of appetite (130/131) and loss of taste (119/131) followed by abdominal pain (104/131), flatulence (102/131), and distention (83/131). Significantly increased AS were found in patients with history of rectal prolapse (p = 0.013), distal intestinal obstruction syndrome (p = 0.013), laparotomy (p = 0.022), meconium ileus (p = 0.037), pancreas insufficiency (p = 0.042), or small bowel resection (p = 0.048) as well as in patients who have been intermittently colonized with P. aeruginosa (p = 0.006) compared to patients without history of these events. In contrast, no statistically significant associations were found to CF-associated liver disease, chronic pathogen colonization, lung function, CF-related diabetes, and nutritional status.ConclusionAs the complex abdominal involvement in CF is still not fully understood, the assessment of the common AS is of major interest. In this regard, symptom questionnaires like the herein presented are meaningful and practical tools facilitating a wider understanding of the abdominal symptoms in CF. Furthermore, they render to evaluate possible abdominal effects of novel modulators of the underlying cystic fibrosis transmembrane (conductance) regulator (CFTR) defect.
Background and ObjectiveFor people with cystic fibrosis, validated patient-reported outcome measures for the assessment of the complex abdominal involvement are lacking. The objective of this study was to examine whether the CFAbd-Score, a novel questionnaire consisting of 28 items, meets the essential requirements (validity and reliability) for a patient-reported outcome measure according to US Food and Drug Administration recommendations. Methods Content validity was assessed by recording the frequencies and severity of symptoms that occurred during the prior 2 weeks in patients with cystic fibrosis (n = 116; aged ≥ 6 years). Comparing the CFAbd-Score results obtained from patients with cystic fibrosis and healthy controls (n = 88), we determined known-groups validity. To explore the structure of the patient-reported outcome measure, a factor analysis was conducted. Internal consistency of the five extracted score domains was assessed using Cronbach's alpha. For test-retest reliability, a subgroup of patients (n = 43) was reevaluated and intra-class correlation coefficients were determined. ResultsThe CFAbd-Score differentiated patients with cystic fibrosis from healthy controls with a large effect size (17.3 ± 1.1 vs. 8.0 ± 0.7 points; p < 0.001; Cohen's d = 0.85). Items, domains, and scores reflected the relevance to patients with cystic fibrosis and allowed a differentiation between subgroups of patients with cystic fibrosis (e.g., patients with and without abdominal pain, pancreatic sufficiency, and age groups). High item-domain loadings as well as good to excellent internal consistency and reproducibility (Cronbach's α = 0.70-0.92; intra-class correlation coefficient = 0.932, 95% confidence interval 0.874-0.963) indicated construct validity and reliability. Conclusions The CFAbd-Score has successfully passed through key steps of the iterative process of patient-reported outcome measure development. Prospectively, the CFAbd-Score is proposed as a patient-centered instrument for monitoring abdominal symptoms and, most interestingly, for evaluating changes in symptoms with novel treatments such as cystic fibrosis transmembrane regulator modulators. Trail Registration ClinicalTrials.gov: NCT03052283.
Abdominal symptoms are a hallmark of Cystic fibrosis (CF). Yet, their association with morphological abnormalities of different abdominal organs is still poorly understood. Aim was therefore to relate these symptoms, assessed with a questionnaire, to findings in abdominal ultrasound (US). In 114 CF patients of all ages, findings in US considering seventeen specific parameters were related to abdominal symptoms compiled with our novel CF-specific 26-modal symptom score (CFAbd-Score). US abnormalities were detected in 95% of the patients. Most frequent findings were pancreatic lipomatosis (88%), liver steatosis (37%), hepatomegaly (31%), and thickened bowel walls (23%). Highest burden of GI-symptoms was clearly associated with pancreatic lipomatosis (p = 0.036). In detail, patients revealing this pathology reported higher rates of abdominal pain (p = 0.018), flatulence (p = 0.006), heartburn (p = 0.04), and reflux of stomach content (p = 0.006). Patients with pancreatic sufficiency had less US-findings (p = 0.033), which in turn was associated with lower rates of abdominal symptoms. The majority of them were carriers of class IV-VI or G551D mutations. Our approach gives new insights regarding the underestimated multi-organ abdominal involvement in CF. The new score can be of high interest e.g. as a complementary tool to assess the gastrointestinal effects of promising novel CF therapeutics.
Cystic fibrosis (CF) is the most frequent life-shortening autosomal recessive disorder in Caucasians. Defects or absence of the CF-transmembrane conductance regulator impair ion transport in apical membranes of exocrine glands. Leading symptoms of typical CF are exocrine pancreatic insufficiency and progressive pulmonary destruction, causing premature death. Additionally, patients can suffer from chronic rhinosinusitis, hepatic and intestinal involvement, diabetes and predominantly male infertility. Areas covered: CFTR-related disorders affect only one or several different organ systems, often to a milder degree. The definition and usage of the term has seen some variations in the last years, aiming to improve differentiation of the broad clinical spectrum associated with CFTR defects. In this review we present disease characteristics, diagnostic criteria, and treatment options of CFTR-related disorders for a multidisciplinary readership. Expert commentary: CFTR-related disorders are often diagnosed late, leading to lack of specialized attendance and adequate therapy. In clinical care, monitoring of the nutritional status, lung function, airway pathogen colonization and laboratory parameters is necessary to optimize therapy and the course of the disease.
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