Wilson’s disease, also called hepatolenticular degeneration, is a rare, inherited metabolic disorder characterized by excessive copper retention in the liver, brain, kidneys, and corneas. These deposits eventually lead to tissue necrosis and fibrosis, causing a variety of clinical effects, especially hepatic disease and neurologic changes. Wilson’s disease is progressive and, if untreated, leads to fatal hepatic failure.
Wilson’s disease is inherited as an autosomal recessive trait only when both parents carry the abnormal gene. There is a 25% chance that carrier parents will transmit Wilson’s disease (and a 50% chance that they will transmit the carrier state) to each of their offspring. The disease usually occurs among eastern Europeans, Sicilians, and other southern Italians.
Wilson’s disease causes excessive intestinal absorption of copper and subsequent decreased excretion of copper in the stool. Copper accumulates first in the liver. As liver cells die, they release copper into the bloodstream, which carries it to other tissues. For example, in the kidneys, excretion of excessive amounts of unbound copper in urine (hypercupriuria) results from ceruloplasmin deficiency, a serum enzyme normally bound to copper. The deposit of copper in the tissue decreases serum copper (hypocupremia).
Clinical manifestations of Wilson’s disease usually appear between ages 6 and 20, although signs and symptoms can occur as late as age 40. Symptoms result from damage to the body tissues caused by progressive copper deposition and vary according to the patient and the state of his disease. The characteristic symptom of Wilson’s disease is Kayser-Fleischer ring — a rusty brown ring of pigment at the periphery of the corneas. (See Kayser-Fleischer ring.) Fever may also occur in acute disease or with intercurrent infection. Other clinical features depend on the area affected.
❑ Liver (including spleen): hepatomegaly, splenomegaly, ascites, jaundice, hematemesis, spider angiomas, and thrombocytopenia, eventually leading to cirrhosis or subacute necrosis of the liver
❑ Blood: anemia and leukopenia
❑ Central nervous system: “wing-flapping” tremors in arms, pill-rolling tremors in hands, facial and muscular rigidity, dys-arthria, unsteady gait, and emotional and behavioral changes
❑ Genitourinary tract: aminoaciduria, proteinuria, uricosuria, glycosuria, and phosphaturia
❑ Musculoskeletal system (in severe disease): muscle wasting, contractures, deformities, osteomalacia, and pathologic fractures.
Several tests suggest Wilson’s disease:
❑ Serum ceruloplasmin: less than 20 mg/dl
❑ Serum copper: less than 80 mcg/dl
❑ Urine copper: more than 100 mcg/24 hours (may be as high as 1,000 mcg)
❑ Liver biopsy: excessive copper deposits (250 mcg/g dry weight), tissue changes indicative of chronic active hepatitis, fatty liver, or cirrhosis.
Treatment aims to reduce the amount of copper in the tissues, prevent additional accumulation, and manage hepatic disease. The most effective treatment for Wilson’s disease consists of lifetime therapy with pyridoxine (vitamin B6) in conjunction with penicillamine, a copper-chelating agent that mobilizes copper from the tissues and promotes its excretion in urine. The patient may require treatment with corticosteroids, such as prednisone, if he can’t tolerate penicillamine. Treatment also includes potassium and sodium supplements before meals to prevent GI absorption of copper. Exercises or physical therapy may be needed, and protective measures for the patient who’s confused or unable to care for himself. In some cases, a liver transplant may be the treatment of choice.
Patient care is supportive and focuses on education.
❑ Because penicillamine is chemically related to penicillin, ask whether the patient is allergic to penicillin before administering the first dose. Watch closely for allergic reactions, such as fever, rash, adenopathy, severe leukopenia, and thrombocytopenia.
❑ Tell the patient and his family which foods to avoid on a low-copper diet (mushrooms, nuts, chocolate, dried fruit, liver, and shellfish). Suggest the use of distilled water because most tap water flows through copper pipes. Copper cooking utensils should be avoided.
❑ Make sure to emphasize the necessity of lifetime therapy. Help the patient and his family make arrangements for continuing education, physical or vocational rehabilitation, and community nursing services, as needed.
❑ Provide emotional support. The neurologic changes Wilson’s disease produces commonly lead to its misdiagnosis as a psychiatric disorder. Reassure the patient that his condition has a treatable physical basis.
❑ For a patient in an advanced stage of the disease, encourage as much self-care as possible to prevent further mental and physical deterioration. Plan an exercise schedule. Avoid sensory deprivation or overload. Prevent injuries that could occur as a result of neurologic deficits.
❑ If the patient is in a terminal stage, provide end-of-life care, including support to the family in their bereavement.
❑ Suggest genetic counseling for couples who are blood relatives or who have a relative with Wilson’s disease. Explain that the chance of their having a child with Wilson’s disease is 25% with each pregnancy. Teach parents the disease’s early symptoms so that they can seek prompt treatment for their child; stress regular pediatric examinations.
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Title: Professional Guide to Diseases (Eighth Edition)
Authors: Springhouse
Publisher: Lippincott Williams & Wilkins
Copyright: 2005
ISBN: 1-58255-370-X
» Next page: Erythema [Erythroderma] (Professional Guide to Signs & Symptoms (Fifth Edition))
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