Disease, Wilson: An inherited disorder in which too much copper accumulates in the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in life, between the ages of 6 and 40.
A diagnostic feature of Wilson disease is what is called a Kayser-Fleischer ring, a deep copper-colored ring around the edge of the cornea. It represents copper deposits in the eye.
The main clinical consequence for about 40 percent of patients with Wilson disease is liver disease. In other patients the first symptoms are neurological or psychiatric or both, and include tremor, rigidity, drooling, difficulty with speech, abrupt personality change, grossly inappropriate behavior and inexplicable deterioration of school work, neurosis or psychosis.
Wilson disease is inherited as an autosomal recessive trait. The gene is on an autosome, a nonsex chromosome, namely, chromosome 13 (in region 13q14.3-q21.1). A person with Wilson disease has two copies of this gene. Their parents each have one copy of the gene and their siblings run a 25 percent chance of also receiving both of the parental Wilson genes and having Wilson disease. (The gene abbreviated ATP7B is now known to produce the “ATPase, Cu++ transporting, beta polypeptide.”)
Most cases of Wilson disease are treated with the drug penicillamine (brand names: Cuprimine, Depen). For the small number of patients who are intolerant of penicillamine, the drug trientine (Syprine) may be used. In patients for whom symptoms worsen, treatment with the drug BAL, or British Anti Lewisite, may result in significant improvement. In rare cases in which there is sudden, severe hepatitis and hemolytic anemia (anemia due to excessive breakdown of red blood cells), only liver transplantation can prevent certain death.
Without proper treatment, Wilson disease is always fatal, usually by the age of 30. If treatment is begun early enough, symptomatic recovery is usually complete, and a life of normal length and quality can be expected. However, if treatment is begun too late, recovery will be only partial and the disease will be fatal.
The disease is named for an English neurologist named Samuel. A. Kinnier Wilson (1878-1937) who in 1912 first described what he termed “Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver.” The fact that penicillamine was useful for treating Wilson disease was reported in 1956. Almost overnight, Wilson disease became one of the few inherited metabolic disorders for which there was effective therapy.
- Disease-free survival
Disease-free survival: The length of time after treatment during which no disease is found. Can be reported for an individual patient or for a study population. “Disease-free survival predicts survival. It always has. And there is a very big decrease in cancer incidence so there will be a survival difference.” (Dr. Larry Norton, in The […]
- Diseases related to obesity
Diseases related to obesity: Obesity increases the risk of developing a large number of diseases. These include: Type 2 diabetes High blood pressure (hypertension) Stroke (cerebrovascular accident or CVA) Heart attack (myocardial infarction or MI) Heart failure (congestive heart failure) Cancer (certain forms such as cancer of the prostate and cancer of the colon and […]
- Diseases, Infectious, Nat'l Inst of Allergy &
Diseases, Infectious, National Institute of Allergy and: This is one of the National Institutes of Health in the U.S. In formal terms, the mission of the NIAID is “to support and conduct research and research training (that) strives to understand, treat, and ultimately prevent the myriad infectious, immunologic, and allergic diseases that threaten millions of […]
- Diseases, inherited metabolic
Diseases, inherited metabolic: Also called inborn errors of metabolism, these are heritable (genetic) disorders of biochemistry. Examples include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are only a very few of the hundreds of known inborn errors of metabolism. Advances in the […]
- Diseases, Musculoskeletal, Nat'l Inst
Diseases, Musculoskeletal & Skin, National Institute of Arthritis &: One of the National Institutes of Health in the U.S. As its somewhat cumbersome name indicates, NIAMS’s mission is a broad and important one, namely to “conduct and support a broad spectrum of research on normal structure and function of bones, muscles, and skin, as well […]