Wilson Disease

Ask about drooling, dysphagia, and speech change - Thirty to fifty percent of patients have neuropsychiatric involvement, and drooling, difficulty speaking, and mask-like facies mark the bulbar dysfunction that makes a patient aspirate. Those findings, not the diagnosis label, decide whether this airway gets secured before the case rather than managed with a supraglottic device.

Get a baseline 12-lead ECG - The ECG in Wilson disease can show ventricular hypertrophy, arrhythmias, and nonspecific ST-segment and T-wave changes. This is a young patient with a cardiac abnormality you will otherwise discover intraoperatively, and it costs one tracing preoperatively.

Check PT/INR and albumin - The liver stops producing clotting factors, so the prothrombin time prolongs, and albumin falls when hepatocyte damage is significant. Both change your plan: the PT gates neuraxial, and a low albumin leaves more free drug available for highly protein-bound agents, so titrate to effect rather than to a weight-based dose.

A low alkaline phosphatase is the ominous one - Alkaline phosphatase runs low in Wilson-related acute liver failure, which is the reverse of what a cholestatic picture would show. A young patient with impaired liver function, hemolytic anemia, and a normal or low alkaline phosphatase is the classic presentation — treat that combination as decompensating liver, not an incidental lab.

Check the hemoglobin - Hemolytic anemia occurs in 10% to 15% of patients from red cell lysis by high copper concentrations. Send a CBC with markers of hemolysis rather than assuming the anemia is dilutional or nutritional.

Reduce penicillamine around surgery - Penicillamine dosing is decreased for surgery and held at the reduced dose until wound healing is complete. Confirm with the hepatology team that this happened, since it is a change the patient may not have been told about clearly. Patients on penicillamine are also supplemented with pyridoxine, typically 25 to 50 mg daily in Wilson disease.

Respect penicillamine's toxicity profile - Close to 30% of patients develop some allergic reaction to it, and the drug requires ongoing monitoring of complete blood count, platelet count, and urinalysis. It is avoided when creatinine clearance falls below 50, so a rising creatinine changes the therapy as well as your drug choices.

Screen renal function and electrolytes - Renal involvement resembles Fanconi syndrome and brings urolithiasis. Send a metabolic panel with bicarbonate, phosphate, and creatinine before induction, because proximal tubular losses show up as an acid-base and electrolyte picture you would rather not meet for the first time on an intraoperative gas.

Position around the skeleton - Skeletal involvement is common and resembles premature osteoarthritis, involving the axial skeleton and spine. Range of motion is limited and painful, so position awake where you can, pad generously, and document pre-existing deficits before the patient loses the ability to report them.

Know the neurologic drugs on board - Baclofen, anticholinergics such as trihexyphenidyl, GABA agents, and levodopa are used for rigidity, spasticity, and parkinsonian features. Plan continuation, since abrupt interruption of these agents does its own harm, and expect anticholinergic load to add to postoperative confusion.

Protect the liver you have - These patients are told to avoid alcohol and all hepatotoxic medications, and that instruction does not pause for your anesthetic. Keep acetaminophen and other hepatically injurious agents off the plan unless there is a specific reason, and confirm total dosing across the whole perioperative period rather than your case alone.

Emergence is slow and looks like something else - Pre-existing tremor, dystonia, rigidity, and chorea can be misread as shivering, residual blockade, or emergence delirium, and hepatic dysfunction adds true delayed awakening on top. Know the patient's baseline movement disorder before induction so you can tell recovery from a new deficit.

Recognize the transplant candidate - Prognostic scores of 7 or higher warrant liver transplant referral; untreated, those patients are generally dead within eight weeks. Transplant is curative for the hepatic disease with 87% survival at 15 years, but it is not recommended for patients whose presentation is neurologic and psychiatric — which shapes how aggressively the liver picture is being pursued and what the patient in front of you has been told.

Wilson disease, or hepatolenticular degeneration, is an autosomal recessive defect in ATP7B on chromosome 13 — the copper-transporting ATPase that loads copper onto ceruloplasmin and excretes the excess into bile. Both fail, so copper accumulates in hepatocytes, then spills unbound into the blood and deposits in the basal ganglia (putamen and globus pallidus), the kidney, and the cornea, forming Kayser-Fleischer rings in Descemet membrane. Free copper generates hydroxyl radicals through Fenton chemistry, and the resulting oxidative injury produces chronic active hepatitis, fibrosis, and cirrhosis in the liver and movement disorder with psychiatric change in the brain.

It affects about 1 in 30,000. Liver disease usually appears in the first decade, neuropsychiatric features in the third or fourth. Anesthetically it is two diseases at once: a liver that may not make clotting factors or clear drugs, and a brain with bulbar and extrapyramidal dysfunction threatening the airway and the emergence.