Access to care in rare liver diseases: New challenges and new opportunities

Abstract

Patients with rare diseases are often disadvantaged, particularly those with rare liver diseases. Reasons for disadvantage include delayed or overlooked diagnosis, lack of local expertise and high-quality care, poor scientific understanding of the disease process and limited therapeutic options. In adult liver disease this can be compounded by prejudices towards patients with liver disease in general, because of a perception (incorrect for all rare liver diseases) that liver disease is lifestyle related and thus "self-inflicted". In paediatric rare liver diseases, such as biliary atresia, optimising outcomes requires a particularly timely diagnosis. Irrespective of patient age, the scientific and medical community must rise to the challenge of advancing our understanding of rare liver disease, searching for more effective and specific therapies, and providing the infrastructure to provide the best care for all patients, infants, children, young and older adults. The European Reference Network for Rare Liver Diseases is an important step in this direction.

Clinical management of autoimmune hepatitis

“…The European Reference Network for Hepatological Diseases (ERN RARE-LIVER) was launched in March 2017 and is a European Union credited joint venture between expert centres across Europe, linking professional societies and patients' groups with the main objective to improve the care of patients with rare liver diseases. 47 Aside from conducting prospective high-quality registries, ERN RARE-LIVER offers expert advice on difficult AIH cases using an online clinical patient management system established by EU. These developments will undoubtedly lead to optimization of current treatment strategies and to reduce discrepancies in AIH care delivery.…”

An Exploratory Study of Social Media Analysis for Rare Diseases Using Machine Learning Algorithms: A Case Study of Trigeminal Neuralgia

“…Delivering the best quality of care equally to all patients is clinically ideal but practically challenging. It is, in many cases, due to lack of specialty knowledge and expertise [1,2]. This challenge is more severe for patients, clinicians and other stakeholders facing rare diseases [1].…”

“…It is, in many cases, due to lack of specialty knowledge and expertise [1,2]. This challenge is more severe for patients, clinicians and other stakeholders facing rare diseases [1]. A rare disease is defined as an incident that affects fewer than 200,000 people in the United States at any given time [3].…”

“…Rare diseases affect an estimated 25 million to 30 million Americans [3]. They are often difficult to diagnose [1] and poorly understood by clinicians due to lack of familiarity with, or even basic awareness of the disease [1,4]. As a result, little research is being performed in many of them, leading to slow advances in clinical care, limited confidence in both diagnosis and management [1,2] and low quality of life.…”

Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER

“…An account of the foundation and the set goals of the ERN RARE-LIVER was published last year and the network broadly formulated five goals (Fig. 3) [3]. This position paper summarizes the achievements of the first year and plots the route for the near future for ERN RARE-LIVER, as discussed during a strategy meeting that took place 27 and 28 February 2018 in Nijmegen, the Netherlands.…”