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DOI: 10.1055/s-0042-1759535
Alström Syndrome: A Systematic Review
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Abstract
Alström syndrome (AS) is a rare multisystem disorder characterized by cone-rod retinal dystrophy leading to vision loss, hearing deficiency, obesity, type 2 diabetes mellitus, and insulin resistance with hyperinsulinemia. The conditions include dilated cardiomyopathy, recurrent fibrotic pulmonary infections, and progressive renal, hepatic, and endocrinological dysfunction. Other clinical findings consist of thyroid problems, short height, and growth hormone insufficiency. In addition, patients present with normal IQ, but in some cases delay in psychomotor and cognitive development is described. There is no treatment for AS, and life expectancy is around 40 years. However, an early identification of the disease can help in reducing the progression to severe conditions and in ameliorating the patient's quality of life. Our intent was to analyze the clinical data in literature on AS and provide an up-to-date review.
Author Contributions
Conceptualization: T. L. M., A. M., M. D. C.
Investigation: C. C., G. F., R. C.
Resources: E. G., G. I.
Data curation: I. C.
Writing - original draft preparation: T. L. M.
Writing - review and editing: I. C.
Supervision: E. G.
All authors have read and agreed to the published version of the manuscript.
Data Availability Statement
The data presented in this study are available on request from the corresponding author.
Publication History
Received: 22 August 2022
Accepted: 27 October 2022
Article published online:
05 December 2022
© 2022. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
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