“My son’s 19, his liver tests are abnormal, his hands have started shaking and he’s become withdrawn and moody”

WILSON’S DISEASE (an autosomal-recessive disorder of COPPER accumulation affecting liver and brain) should be CONSIDERED in anyone with unexplained LIVER disease — especially a YOUNG person under about 40 (EASL–ERN 2025, international) — and/or NEUROLOGICAL (tremor, dystonia, dysarthria, parkinsonism, clumsiness) and PSYCHIATRIC/behavioural (mood/personality change, cognitive decline, falling grades) features — the COMBINATION of hepatic with neuropsychiatric features being the key prompt ("could it all be connected?"). It is rare but crucially TREATABLE, and devastating (progressive liver failure, irreversible neurological/psychiatric damage, death) if missed, so it must be considered and excluded rather than attributed to alcohol, "teenage moodiness" or primary psychiatric illness alone. Diagnostic clues include a low serum CAERULOPLASMIN (a normal level does not exclude it), raised 24-hour urinary copper (and raised hepatic copper on biopsy), and KAYSER-FLEISCHER rings (copper at the corneal margin) on slit-lamp examination (especially with neurological involvement); arrange/seek caeruloplasmin and a slit-lamp eye exam alongside LFTs with a liver aetiology screen (BSG 2018) and copper studies, with genetic testing (ATP7B) supporting the diagnosis. As an autosomal-recessive condition, siblings and family should be SCREENED, since early treatment of pre-symptomatic relatives prevents disease. Refer to hepatology/neurology/specialist services for confirmation and treatment — copper chelation (penicillamine or trientine) or zinc (reduces absorption) (EASL–ERN 2025, AASLD 2022, international; BNF), with dietary copper advice only a minor supportive measure, lifelong treatment and monitoring (stopping can cause fatal liver failure), and liver transplant for acute or end-stage liver failure. Primary care’s role is to think of it, arrange initial tests, refer urgently, and arrange same-day assessment for signs of acute liver failure (jaundice, confusion, drowsiness, bleeding/bruising, vomiting blood) or haemolysis. At 19, Adam is an adult: check his consent for the parent to be present, see him alone for part of the consultation, and assess mood and self-harm risk. The skill is recognising the combined liver + neuro/psychiatric pattern in a young person, doing/arranging caeruloplasmin and a slit-lamp exam, screening family, and referring — not dismissing it.