An inherited disease of copper metabolism dysfunction
characterized by cirrhosis and central nervous system (CNS) findings; fatal if not recognized and
Genetic disorder most common in Eastern Europeans, Jews,
Arabs, Italians, Japanese, Chinese, and Indians.
1:30,000 in general population.
Autosomal recessive. Gene localized to
Caused by mutation in the ATPase, Cu2+
transporting, beta-polypeptide gene (ATP7B) located at 13q14.3-q21.1. A
defect in copper metabolism leads to decreased incorporation of copper into
ceruloplasmin and reduction in biliary excretion of copper. This results in
deposition of copper into liver (resulting in fatty intracellular accumulations
progressing to deposition of collagen, fibrosis, and nodular cirrhosis
followed by development of portal hypertension and esophageal and gastric
varices), brain (particularly basal ganglia, putamen, globus and pallidus, and
caudate, resulting in inflammation, gliosis, and eventually loss of
neurons), and kidney (resulting in Fanconi syndrome, aminoaciduria, glycosuria,
phosphaturia, and nephrolithiasis). Other systemic involvement may include
hemolytic anemia, osteoporosis, copper deposition in heart, rhabdomyolysis,
Based on clinical course and biochemical findings,
including low serum ceruloplasmin, elevated 24-hour urinary copper
excretion, and liver biopsy.
Characterized by the involvement of several systems. Hepatic: a spectrum from fulminant liver failure
associated with coagulopathy and encephalopathy (more common in children) to
chronic progressive cirrhosis with development of portal hypertension.
Neurologic: intention tremor, dysarthria, loss of fine motor control, mask-like facies,
pseudobulbar involvement, drooling, dysphagia, dystonia, incoordination,
difficulty with fine motor tasks, and gait disturbance. Eyes: Kayser-Fleischer
rings are almost pathognomonic and appear as a brownish deposit at the
periphery of the cornea. Cardiac: rarely develop cardiomyopathy; rhythm
abnormalities and increased autonomic tone are observed. Renal: renal
complications tend to be functional changes unrelated to identifiable
histologic findings. Rarely, patients with Wilson disease develop renal
stones and associated symptoms. Renal stones are precipitated by
hypercalciuria and poor urine acidification. Musculoskeletal: highly variable and includes
osteoporosis, osteomalacia, rickets, spontaneous fractures, and
polyarthritis. Skin: skin pigmentation and a bluish discoloration at the base of
the fingernails (azure lunulae). Clinical course depends on presentation.
With early diagnosis can be effectively treated with chelating agents,
including penicillamine, trientine, and zinc.
Clinical evaluation of the hepatic
function and neurologic and cardiac status. Evaluate in
particular, coagulation status, and the concentration of serum albumin.
The correction of any coagulopathy must be done prior to surgery.
Cardiac evaluation, including echocardiogram
and ECG must be obtained. Blood examination: cell blood count (CBC), renal function. Evaluate for penicillamine
Some degree of liver dysfunction is
invariably present and should be considered in selection of anesthetic
agents. Consider presence of varices and the possibility of gastrointestinal (GI) bleed.
Penicillamine may have significant side effects, including leukopenia,
thrombocytopenia, aplastic anemia, nephrotic syndrome, and myasthenia-like
Anesthetic agents requiring hepatic and, to a
lesser extent, renal clearance must be used with care. ...