Adult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report

TL;DR

A 45-year-old man was diagnosed with Alström syndrome after showing late signs like diabetes and liver fibrosis, despite having early visual and hearing loss.

Contribution

This case highlights atypical diagnostic clues for Alström syndrome in adulthood, aiding in the recognition of a rare genetic disorder.

Findings

Adult-onset diabetes and liver fibrosis can be late indicators of Alström syndrome.

Early visual and hearing loss combined with later metabolic and hepatic issues suggest ALMS.

Genetic testing confirmed the diagnosis after years of undiagnosed symptoms.

Abstract

Alström syndrome (ALMS) is a rare, autosomal recessive condition characterized by progressive multiorgan dysfunction, including vision and hearing loss, obesity, type 2 diabetes mellitus (T2DM), and hepatic and renal impairment. The significant clinical variability and complexity of ALMS often lead to diagnostic delays, with symptoms frequently progressing over many years. This case details a 45-year-old man with a history of early-onset visual impairment and hearing loss (diagnosed at the age of 9-10 years) who subsequently had a late diagnosis of ALMS following the discovery of significant hepatic fibrosis of unknown cause and recent diagnosis of diabetes mellitus without diabetes related antibodies. Given the constellation of symptoms, genetic testing was requested, which ultimately confirmed the diagnosis of ALMS, highlighting how atypical features and delayed recognition can underscore a rare condition with advanced, yet previously unappreciated, organ pathology.

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