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

TY - JOUR

T1 - Access to care in rare liver diseases: New challenges and new opportunities

AU - Jones, David E J

AU - Sturm, Ekkehard

AU - Lohse, Ansgar W

N1 - Copyright © 2017 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

PY - 2018/3

Y1 - 2018/3

N2 - 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.

AB - 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.

KW - Journal Article

KW - Review

U2 - 10.1016/j.jhep.2017.11.004

DO - 10.1016/j.jhep.2017.11.004

M3 - SCORING: Review article

C2 - 29113911

VL - 68

SP - 577

EP - 585

JO - J HEPATOL

JF - J HEPATOL

SN - 0168-8278

IS - 3

ER -