Current management of Alström syndrome and recent advances in treatment

ABSTRACTIntroduction: Alstrom 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, Alstrom Syndrome International clinics, PubMed and Embase searches.Expert opinion: A single intervention to prevent or reverse all manifestations of Alstrom 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 i...