ArticleFrontiers in endocrinology2026
Case Report: Late-onset liver cirrhosis in an elderly patient with FBN1-related Geleophysic Dysplasia.
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: FBN1-related geleophysic dysplasia (GD2) is an ultrarare autosomal dominant disorder caused by dominant-negative missense variants in the TGFβ-binding protein-like domain 5 (TB5) of Case presentation: A 76-year-old Chinese man presented with a 1-year history of abdominal distension and was found to have liver cirrhosis during routine examination. He had no history of viral hepatitis, alcohol abuse, or other conventional liver disease risk factors. Physical examination revealed short stature (128 cm), brachydactyly, and mild scleral icterus. His 39-year-old daughter shared a similar skeletal phenotype and had a history of cardiac valve replacement. Laboratory tests showed moderate hyperbilirubinemia and mild thrombocytopenia with normal liver enzymes. Serological screening markers for viral hepatitis and autoimmune liver disease were all unremarkable. Liver elastography (15.5 kPa) and contrast-enhanced MRI confirmed cirrhosis with portal hypertension. Whole-genome sequencing identified a heterozygous pathogenic Conclusion: To our knowledge, this is the first reported case of late-onset liver cirrhosis in an elderly GD patient caused by an
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