Consensus clinical management guidelines for Alström syndrome

Orphanet Journal of Rare Diseases

Ann Chivers¹  Kerry Leeson-Beevers¹  Diana Valverde²  Hélène Dollfus³  Richard Steeds⁴  Adrian T. Warfield⁵  Natascia Tahani⁶  Charlotte Dawson⁶  Tarekegn Geberhiwot⁷  Timothy Barrett⁸  Selma Düzenli⁹  Clair A. Francomano^1,10  Gabriella Milan^1,11  Francesca Favaretto^1,11  Francesca Dassie^1,11  Pietro Maffei^1,12  Shyam C. Madathil^1,13  Meral Gunay-Aygun^1,14  Joan C. Han^1,15  Richard Paisey^1,16  Marina Valenti^1,17  Vincent Marion^1,18  Matthew J. Armstrong^1,19 

[1] Alström Syndrome UK, Torquay, Devon, UK;CINBIO (Centro de Investigacion Biomedica), Universidad de Vigo, Vigo, Spain;Centre de référence pour les affections rares ophtalmologiques CARGO, FSMR SENSGENE, ERN-EYE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France;Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d’Alsace, Université de Strasbourg, Strasbourg, France;Department of Cardiology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK;Department of Cellular Pathology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK;Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, B15 2TH, Birmingham, UK;Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, B15 2TH, Birmingham, UK;Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK;Department of Endocrinology and Diabetes, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK;Department of Medical Genetics, Abant İzzet Baysal University, Bolu, Turkey;Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA;Department of Medicine (DIMED), Padua University Hospital, Padua, Italy;Department of Medicine (DIMED), Padua University Hospital, Padua, Italy;Adult MTG3 Chair of ENDO-ERN, Azienda Ospedaliera Padova, Padua, Italy;Department of Respiratory Medicine, University Hospital Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK;Departments of Genetic Medicine and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA;Departments of Pediatrics and Physiology, College of Medicine, University of Tennessee Health Science Center and Pediatric Obesity Program, Children’s Foundation Research Institute, Le Bonheur Children’s Hospital, Memphis, TN, USA;Diabetes Research Unit, Torbay and South Devon NHS Foundation Trust, Torquay, UK;Italian Association Alström Syndrome, Padua, Italy;ENDO-ERN ePAG representative in MTG3, Padua, Italy;Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d’Alsace, Université de Strasbourg, Strasbourg, France;Liver and Hepatobiliary Unit, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK;

关键词: Alström syndrome;    Guidelines;    Rare disease;    Blindness;    Deafness;    Cardiomyopathy;    Insulin resistance;    Obesity;    Non-alcoholic fatty liver disease;   

DOI  :  10.1186/s13023-020-01468-8

来源: Springer

【 摘 要 】

Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. Clinical symptoms first appear in infancy with great variability in age of onset and severity. ALMS has an estimated incidence of 1 case per 1,000,000 live births and ethnically or geographically isolated populations have a higher-than-average frequency. The rarity and complexity of the syndrome and the lack of expertise can lead to delayed diagnosis, misdiagnosis and inadequate care. Multidisciplinary and multiprofessional teams of experts are essential for the management of patients with ALMS, as early diagnosis and intervention can slow the progression of multi-organ dysfunctions and improve patient quality of life.These guidelines are intended to define standard of care for patients suspected or diagnosed with ALMS of any age. All information contained in this document has originated from a systematic review of the literature and the experiences of the authors in their care of patients with ALMS. The Appraisal of Guidelines for Research & Evaluation (AGREE II) system was adopted for the development of the guidelines and for defining the related levels of evidence and strengths of recommendations.These guidelines are addressed to: a) specialist centres, other hospital-based medical teams and staffs involved with the care of ALMS patients, b) family physicians and other primary caregivers and c) patients and their families.

【 授权许可】

CC BY