Patients with PFIC face debilitating symptoms and poor prognosis. Further research is needed to inform patient management and clinical trial design. Published data on the epidemiology and socioeconomic burden of PFIC is limited.

SUMMARYEosinophilic esophagitis is a chronic immune-mediated esophageal disorder. For its timely diagnosis, clinicians must recognize common symptoms, and understand differences in symptoms across patient groups. The aim of this study is to systematically review the epidemiology and natural history of eosinophilic esophagitis. The MEDLINE, Embase, and Cochrane databases were searched from 1974 to February 2017 for studies describing the epidemiology and natural history of eosinophilic esophagitis. Congress abstracts from 2014 to 2016 were also searched. Search results were screened against predetermined inclusion/exclusion criteria by two independent reviewers, and data extraction was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Of 1376 articles identified, 47 met the inclusion criteria: 20 on epidemiology and 27 on natural history. Incidence and prevalence of eosinophilic esophagitis varied widely across North America and Europe, and increased over time. Incidence increased 131-fold in the Netherlands (1996–2010), 20-fold in Denmark (1997–2006), and 5.1-fold in Calgary, Canada (2004–2008). The most commonly reported symptoms were emesis and abdominal pain in children, and dysphagia and food impaction in adults. Age at diagnosis was 5.9–12.0 years in children, and approximately 30 years in adults. Time between symptom onset and diagnosis was 1.2–3.5 years in children and 3.0–8.0 years in adults. Diagnostic delay was associated with an increased risk of endoscopic features of fibrostenosis. Symptoms of eosinophilic esophagitis differed significantly by age and race. In conclusion, there is an increasing incidence and prevalence of eosinophilic esophagitis. The considerable delay between symptom onset and diagnosis suggests that clinicians do not readily recognize the disease, which may have important clinical ramifications.

Background and Aim:Alagille syndrome (ALGS) is an inherited multisystem disorder typically manifesting as cholestasis, and potentially leading to end-stage liver disease and death. The aim of the study was to perform the first systematic review of the epidemiology, natural history, and burden of ALGS with a focus on the liver component.Methods:Electronic databases and proceedings from key congresses were searched in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2009 guidelines. This analysis included publications reporting epidemiology, natural history, economic burden or health-related quality of life (HRQoL) outcomes in patients with ALGS.Results:Of 525 screened publications, 20 met the inclusion criteria. Liver-related features included cholestasis (87%–100% of patients), jaundice (66%–85%), and cirrhosis (44%–95%). Between 15% and 47% of patients underwent liver transplantation and 4% to 14% received partial biliary diversion. Pruritus affected the majority of patients (59%–88%, of whom up to 45% had severe pruritus) and manifested during the first 10 years of life. Children with ALGS had significantly impaired HRQoL compared with healthy controls and those with other diseases. Itching was the symptom that most affected children with ALGS. No study assessed the economic burden of ALGS.Conclusions:Our findings consolidate information on the clinical course of ALGS, and highlight gaps in knowledge, most notably the absence of any research on the economic consequences of the disease. Further research is needed to establish the incidence of genetically confirmed ALGS. Disease-specific tools are also needed to improve the measurement of symptoms, such as itching, and better understand the impact of ALGS on HRQoL.

EoE negatively impacts the HRQoL of patients and their families, and is a burden to the health care system. Although data are sparse, currently available treatments appear to improve HRQoL.

Objectives: The aim of this study was to develop and apply an instrument to map the level of health technology assessment (HTA) development at country level in selected countries. We examined middle-income countries (Argentina, Brazil, India, Indonesia, Malaysia, Mexico, and Russia) and countries well-known for their comprehensive HTA programs (Australia, Canada, and United Kingdom). Methods: A review of relevant key documents regarding the HTA process was performed to develop the instrument which was then reviewed by selected HTAi members and revised. We identified and collected relevant information to map the level of HTA in the selected countries. This was supplemented by information from a structured survey among HTA experts in the selected countries (response rate: 65/385). Results: Mapping of HTA in a country can be done by focusing on the level of institutionalization and the HTA process (identification, priority setting, assessment, appraisal, reporting, dissemination, and implementation in policy and practice). Although HTA is most advanced in industrialized countries, there is a growing community in middle-income countries that uses HTA. For example, Brazil is rapidly developing effective HTA programs. India and Russia are at the very beginning of introducing HTA. The other middle-income countries show intermediate levels of HTA development compared with the reference countries. Conclusions: This study presents a set of indicators for documenting the current level and trends in HTA at country level. The findings can be used as a baseline measurement for future monitoring and evaluation. This will allow a variety of stakeholders to assess the development of HTA in their country, help inform strategies, and justify expenditure for HTA.