Although abnormal copper accumulation begins at birth, the symptoms of Wilson disease may not become apparent until late childhood or adolescence. In all patients, copper initially accumulates in the liver. This may cause acute or chronic inflammation of the liver (hepatitis) or severe liver disease due to a progressive loss of liver function (cirrhosis). The degree of liver involvement is variable and may range from mild elevations of certain liver enzymes (e.g., aspartate transaminase [AST], alanine transaminase [ALT]) to complete liver failure. Associated symptoms may include fatigue, loss of appetite (anorexia), weight loss, generalized weakness, fluid accumulation in the abdomen (ascites) and abdominal swelling, or yellowish discoloration of the skin and the eyes (jaundice). Other findings may include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or both (hepatosplenomegaly). In general, the younger the age at symptom onset, the greater the degree of liver involvement. In patients with Wilson disease, neurologic symptoms seem to be predominant after age 20.
Many individuals with Wilson disease experience symptoms associated with damage to the nervous system. These symptoms usually become apparent during the second decade of life or, in some patients, during the third decade; however, such findings have been known to appear as late as age 50. Neurologic abnormalities rarely occur in patients younger than age 10. These neurologic symptoms may include tremor of the head, arms, or legs; generalized, impaired muscle tone and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia), particularly those of the tongue, lips, and jaw. Patients may also experience clumsiness, difficulty with balance, and impaired coordination of voluntary movements, such as walking (ataxia), or slowness of finger movements and loss of fine motor skills. Tremor or trembling may be present in one hand or leg and gradually progress to involve all four limbs. Speech may become increasingly slurred or slowed (dysarthria) and patients may inadvertently "drop" the ends of words. The voice may also have a hoarse or "whispering" quality (whispering dysphonia). In some patients, swallowing may become increasingly difficult (dysphagia).
Psychiatric problems also occur in some individuals with Wilson disease. These may include increasing agitation and irritability, mood swings, hysteria, neurotic anxiety, bizarre behaviors, or depression accompanied by thoughts of suicide. A relatively small percentage of people with Wilson disease may experience progressive loss of intellectual skills and cognitive abilities (dementia) or, in severe cases, psychosis (e.g., manic-depressive disease, schizo-affective disorder, or schizophrenia).
Other findings that may occasionally be associated with Wilson disease include impaired kidney function; the development of unusually dark skin patches (hypermelanotic pigmentation); or premature breakdown of red blood cells (hemolysis) leading to hemolytic anemia, a chronic condition in which there are reduced levels of the protein that enables red blood cells to transport oxygen to cells (hemoglobin). Some patients may also have unusually low levels of circulating blood platelets (thrombocytopenia) resulting in easy bruising and bleeding; softening and thinning of the bones; and problems with the major joints, such as those in the legs and arms.