![Sample our Bioscience journals, sign in here to start your access, Latest two full volumes FREE to you for 14 days]({"type":"image" , "src" : "/sda/5925/TOC-Subject-Sample-2021-Bioscience.jpg"})
ABSTRACT
Introduction: Alström syndrome is a recessively inherited condition (OMIM 203800) characterised by dual sensory loss, type 2 diabetes, coronary artery disease, organ fibrosis, and smooth muscle dysfunction.
Areas covered: This paper covers family support, educational needs, cardiomyopathy, blindness, deafness, metabolic syndrome, diabetes, smooth muscle dysfunction, hepatic and renal fibrosis. Sources of data include multidisciplinary clinic audits, a research database, Alström Syndrome International clinics, PubMed and Embase searches.
Expert opinion: A single intervention to prevent or reverse all manifestations of Alström syndrome is not currently possible. Multidisciplinary annual review is essential to plan treatments and intervene early to treat complications. Braille, IT skills and digital hearing aids are crucial to support education and social integration. Lifestyle modification will prevent type 2 diabetes and mitigate metabolic syndrome and coronary artery disease. Renal transplantation is safe. Hepatic cirrhosis, oesophageal reflux and bladder dystonia are treated as in the general population. Multiple organ dysfunction confers a high risk of death from pneumonia and post-operative hypoxia. Therefore influenza and pneumococcus vaccinations are strongly recommended. Intensive care after all invasive procedures and for infant cardiomyopathy is crucial. Exploration of new therapies to slow retinal degeneration and organ fibrosis is at an early stage.
Article highlights
A hub and spoke model of specialised annual review and close liaison with local primary and secondary care has proven to be a successful care strategy.
Co-ordinated family support to facilitate educational progress and social integration is of fundamental importance.
Death from hypoxia associated with lower respiratory tract infection and anaesthesia should be averted.
Diagnosis should now be made early by genetic testing for ALMS1 mutations in childhood retinal dystrophy with obesity.
End stage renal failure treatment including renal transplantation is successful.
Medical management can now be directed towards preventive interventions for metabolic complications.
New insights elucidating the role of the ALMS protein as part of the primary ciliary apparatus in the retina, cochlea, kidney, liver and heart should facilitate more specific treatments in the future.
This box summarizes key points contained in the article.
Acknowledgments
Alström families worldwide have been supported socially and personally through ASI as well as through researches conducted with the Jackson Laboratory, Maine, USA. Pietro Maffei has led clinical and research teams at Padua University in Italy. The Torbay Hospital clinics were developed by a comprehensive team of physicians, therapists, surgeons and biochemists. Tarekegn Hiwot has continued Alström UK clinics at Queen Elizabeth Hospital Birmingham and Tim Barrett the Birmingham Children’s Hospital clinics.
R M Paisey assisted with the formatting of the manuscript and M Cowie with the figures.
Declaration of interest
This paper has been supported by funding from the Jeans for Genes campaign and a Big Lottery Fund grant RGT/1/010332749. K Leeson-Beevers is a contracted family liaison officer to Alström Syndrome UK. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
Supplemental data
Supplemental data for this article can be accessed here.
