Current management of Alstrom syndrome and recent advances in treatment

Introduction: 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 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.