Rare but relevant: Genetic liver disease in the general medical setting

Genetic liver diseases are individually rare but collectively significant causes of chronic liver dysfunction in adults. Conditions such as Wilson disease, hereditary haemochromatosis and alpha-1 antitrypsin deficiency often present with vague or non-specific features, including fatigue, abnormal liver enzymes or extrahepatic manifestations. These features are easily misattributed to more common hepatic or systemic conditions, particularly in acute or general medical settings. Early recognition and investigation are crucial, as targeted treatments can prevent progression to end-stage liver disease, and timely referral enables cascade testing for at-risk relatives. With increasing access to genomic testing through systems such as the NHS Genomic Medicine Service in England, generalists play a key role in integrating genomics into routine care. This article provides a practical update on recognising, investigating and managing rare genetic liver conditions, aiming to support earlier diagnosis, better patient outcomes, and improved use of genomic services in frontline practice.