Consensus clinical management guidelines for Alström syndrome
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Published:2020-09-21
Issue:1
Volume:15
Page:
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ISSN:1750-1172
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Container-title:Orphanet Journal of Rare Diseases
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language:en
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Short-container-title:Orphanet J Rare Dis
Author:
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, Barrett Timothy, Geberhiwot TarekegnORCID
Abstract
AbstractAlström 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.
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Reference85 articles.
1. Alström CH, Hallgren B, Nilsson LB, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and Neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-moon-Bardet-Biedl syndrome: a clinical, Endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl. 1959;129:1–35. 2. Paisey RB, Barrett T, Carey CM, Hiwot T, Cramb R, White A, et al. Rare disorders presenting in the diabetic clinic: an example using audit of the NSCT adult Alström clinics. Pract Diab. 2011;28(8):340–3. 3. Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, et al. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat. 2007;28(11):1114–23. 4. Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet. 2002;31(1):74–8. 5. Goldstein JL, Fialkow PJ. The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore). 1973;52(1):53–71.
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