# Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient

## TL;DR

This paper reports a case of Bardet-Biedl syndrome in an adult with chronic liver disease, highlighting the importance of early diagnosis for better outcomes.

## Contribution

The paper expands the known clinical spectrum of Bardet-Biedl syndrome by identifying chronic liver disease as a potential manifestation.

## Key findings

- Chronic liver disease was identified in an adult patient with Bardet-Biedl syndrome.
- Delayed diagnosis of Bardet-Biedl syndrome can increase disease burden.
- Systematic multisystem screening, including hepatic evaluation, is crucial for timely intervention.

## Abstract

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy with multisystem involvement, classically characterized by retinal dystrophy, obesity, postaxial polydactyly, and renal abnormalities. We report a 30-year-old patient who presented with progressive visual impairment, truncal obesity, and postaxial polydactyly. Comprehensive evaluation revealed clinical, biochemical, and radiological features consistent with chronic liver disease, with common etiologies - including viral hepatitis, alcohol-related liver disease, and autoimmune disorders - excluded. Recognition of the constellation of systemic features led to the diagnosis of BBS in adulthood, highlighting a significant delay in syndromic identification. This case emphasizes chronic liver disease as a potentially underrecognized manifestation of BBS and illustrates the impact of delayed diagnosis on disease burden. Early recognition of BBS and systematic multisystem screening, including hepatic evaluation, is essential to enable timely intervention and improve long-term outcomes.