Consensus clinical management guidelines for Alström syndrome.

Tahani, Natascia, Maffei, Pietro, Dollfus, Hélène, Paisey, Richard, Valverde, Diana, Milan, Gabriella, Han, Joan C, Favaretto, Francesca, Madathil, Shyam C, Dawson, Charlotte, Armstrong, Matthew J, Warfield, Adrian T, Düzenli, Selma, Francomano, Clair A, Gunay-Aygun, Meral, Dassie, Francesca, Marion, Vincent, Valenti, Marina, Leeson-Beevers, Kerry, Chivers, Ann, Steeds, Richard Paul, Barrett, Timothy and Geberhiwot, Tarekegn (2020) Consensus clinical management guidelines for Alström syndrome. Orphanet journal of rare diseases, 15 (1). p. 253. ISSN 1750-1172. This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs

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Abstract

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.

Item Type: Article
Additional Information: This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs
Subjects: QZ Pathology. Oncology
WF Respiratory system. Respiratory medicine
WG Cardiovascular system. Cardiology
WI Digestive system. Gastroenterology
WK Endocrine system. Endocrinology
WS Paediatrics. Child health
WW Eyes. Ophthalmology
Divisions: Ambulatory Care > Ophthalmology
Related URLs:
Depositing User: Jamie Edgar
Date Deposited: 28 Sep 2020 14:15
Last Modified: 28 Sep 2020 14:15
URI: http://www.repository.uhblibrary.co.uk/id/eprint/3477

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