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Everything you need to know about Wilson Disease

Glossary of Terms

This part of our website is intended to help you understand some of the medical "jargon" that you may hear or see on this website, in print, or hear in your phyicians office. The terms are explained, as much as possible, in layman's language to make it easy for those who are not well versed in medical terminology.


Ageusia – Loss of taste.
Agranulocytosis - An acute condition marked by severe decrease in white blood cells and by fever, exhaustion, chills, swollen neck, and sore throat sometimes with local ulceration; believed to be basically a response to the side effects of certain drugs.
Alopecia - Sudden loss of hair in defined patches with little or no inflammation.
Anaphylaxis – Extreme sensitivity to a foreign protein or drug; can be severe and sometimes fatal; causes a drop in blood pressure, difficulty breathing, fainting, itching, and hives.
Anemia – A condition caused by too few red blood cells in the bloodstream, resulting in insufficient oxygen to tissues and organs.
Anorexia – Prolonged loss of appetite and distaste for food.
Aplastic anemia - Anemia that is characterized by defective function of the blood-forming organs (as the bone marrow) and is caused by toxic agents or is idiopathic in origin. Also called hypoplastic anemia.
Ascites – The accumulation of fluid in the abdominal cavity, most commonly caused by cirrhosis of the liver.
Basal ganglia – Group of cells deep in the brain that initiate and control movement.
Bile – A yellowish green digestive fluid produced in the liver necessary for the digestion and absorption of fat.
Biochemical testing - Measuring the amount of a substance in the body through blood or urine analysis.
Ceruloplasmin - A blood glycoprotein to which copper is bound during transport and storage.
Chelator - binds the excess copper in the body and increases the excretion of copper in the urine.
Cholestasis – A reduction or stoppage of bile flow between the liver and the upper part of the small intestine.
Cirrhosis - A chronic progressive disease of the liver characterized by the replacement of healthy cells with scar tissue (fibrosis).
Cupriuria - The presence of excess copper in the urine.
Cutaneous macular atrophy – Spotted skin rash.
Diplopia - A disorder of vision in which two images of a single object are seen because of unequal action of the eye muscles (double vision).
Dysarthria - Difficulty in speaking words due to poor coordination of the speech muscles. Speech is slurred and there are uncontrolled fluctuations in volume.
Dysphagia: Slow movement of the tongue, lips, throat and jaws that causes drooling and difficulties in swallowing, caused by dystonia of the vocal chords. The voice may be hoarse, tone and volume may be diminished causing the speech to have a soft whisper-like quality
Dystonia - The condition of a sustained increase in muscle tone, sometimes with contractions or spasms of muscles of the shoulders, neck, and trunk. It frequently causes twisting and repetitive movements or abnormal postures, due to disease involving the basal ganglia of the brain.
Edema - The swelling of soft tissues as a result of excess water accumulation.
Elastosis perforans serpiginosum (EPS lesions) - Ring-shaped small, localized, superficial, solid elevations of skin, possibly occurring in groups. They may be discolored in varying hues of red, brown, or black. The outer layer of skin is thickened around a central plug of the skin’s elastic tissue which is extruded through the outer layer of skin. EPS lesions have been identified as a possible side effect of long-term use of penicillamine.
Encephalopathy - A condition used to describe the harmful effects of liver failure on the central nervous system. Features include confusion ranging from confusion to unresponsiveness (coma). Symptoms generally related to the liver's inability to properly detoxify the blood and is associated with elevated blood ammonia levels. Treatment includes different methods to eliminate the production of ammonia from the gastrointestinal tract and to trap substrate for ammonia production so that it will not be absorbed by the gastrointestinal (GI) tract.
Endoscopy - A procedure using an endoscope , a small, flexible instrument that is a tube with a light and a lens on the end used to look into the esophagus, stomach, small and large intestine etc.
Esophageal varices - Stretched veins in the walls of the lower part of the esophagus and sometimes the upper part of the stomach and rarely in the small intestine and rectum. A complication of portal hypertension (increased blood pressure in the portal vein caused by liver disease). May cause massive bleeding.
Fatty liver (steatosis) – The build-up of fat in the liver cells.
Fibrosis – An abnormal thickening and scarring of the liver tissue.
Goodpasture’s syndrome – A condition characterized by rapid destruction of the kidneys and hemorrhaging of the lungs. It is an autoimmune disease produced when the patient’s immune system attacks cells presenting the Goodpasture antigen, which are found in the kidney and lung, causing damage to these organs; caused by a possible toxicity of penicillamine treatment.
Hematemesis – Vomiting of blood; may be red, appear as coffee grounds, brown or black.
Hematuria – The presence of blood or blood cells in the urine.
Hemolysis - Breakdown of red blood cells, causing fewer than normal red cells to be available in the circulation to transport oxygen.
Hepatitis – Inflammation of the liver.
Hepatomegaly – Enlargement of the liver.
Hepatosplenomegaly – Enlargement of the liver and spleen.
Hyperkeratosis – Thickening of the outer layer of the skin.
Hypogeusia - Decreased sensitivity to taste.
Jaundice – Yellow or greenish hue to the skin and/or whites of the eyes caused by elevated bilirubin (formed when red blood cells are broken down; bilirubin taken up and transported by the liver into bile that is excreted into the intestine.
Kayser-Fleisher ring - A brown or greenish brown ring of copper deposits around the cornea; can only be seen with a slit-lamp by an ophthalmologist or optometrist early on, but may be visible to the naked eye when very large.
Leukopenia - An abnormal reduction in the number of white blood cells (leukocytes) circulating in the blood, most commonly caused by a reaction to various drugs.
Lichen planus - Shiny, flat-topped bumps that often have an angular shape. These bumps have a reddish-purplish color with a shiny cast due to a very fine scale. The disease can occur anywhere on the skin, but often favors the inside of the wrists and ankles, the lower legs, back, and neck.
Lupus erythematosus - A disorder characterized by skin inflammation, especially over the nose and cheeks – “butterfly rash”; or red scaly patches.
Lupus nephritis – Inflammation of the kidney associated with systemic lupus erythematosus that is typically characterized by proteinuria and hematuria, and that often leads to renal failure.
Lymphadenopathy - Abnormal enlargement of the lymph nodes.
Melena – Passing of dark blackish stools, indicating a bleeding disorder in the upper gastrointestinal track.
Myasthenic syndrome - Progressive weakness and exhaustibility of voluntary muscles without atrophy or sensory disturbance.

Metallothionein Inducer - Removes copper from the body by increasing the amount of metallothionein in the cells of the intestines. Copper is bound within these cells and excreted through the stool.

Nephrolithiasis - A condition marked by the presence of renal calculi (kidney stones).
Nephrotic syndrome - A collection of symptoms that affect the kidneys, resulting in a severe, prolonged loss of protein into the urine, decreased blood levels of protein (especially albumin), retention of excess salt and water in the body, and increased levels of fats (lipids) in the blood.
Obliterative bronchitis – Acute or chronic inflammation in the lung, causing closure of the bronchial tubes.
Optical axial neuritis – Inflammation of the nerve of the eye.
Portal hypertension – an increase in the pressure within the portal vein (the vein that carries blood from the digestive organs to the liver). The increase in pressure is caused by an increase in resistance to the blood flow through the liver due to swelling or scarring of the liver.
Proteinuria - The presence of excess protein in the urine.
Pseudobulbar palsy - A set of clinical signs including slowed slurred speech; difficulty with swallowing; weakness of face, tongue, and swallowing muscles; a tendency for uncontrollable laughter or crying; and brisk jaw and gag reflexes.
Psychosis – A serious mental disorder (as schizophrenia) characterized by defective of lost contact with reality, often with hallucinations or delusions.
Ptosis - A sagging or prolapse of an organ or part (renal ptosis); the drooping of the upper eyelid from paralysis of the third nerve.
Serous retinitis – Inflammation of the retina of the eye.
Serum free copper (Non-ceruloplasmin bound copper) – The amount of serum free copper is the amount of copper circulating in the blood which is not bound by ceruloplasmin. This is the copper which is "free" to accumulate in the liver and other organs. To calculate serum free copper, use the following formula: Total Serum Copper in μg/dL) - (Ceruloplasmin in mg/dL ×3) = Free Copper (Normal range is 5 to 15 μg/dL)
Sideroblastic anemia - Large numbers of iron-containing red blood cells in the bone marrow.
Splenomegaly – Enlargement of the spleen.
Thrombocytopenia - Persistent decrease in the number of blood platelets
Toxic hepatitis – Drug-induced inflammation of the liver.
Tremor - Involuntary, somewhat rhythmic movements of the muscles that cause various parts of the body to move uncontrollably.
μg – Microgram.
μMoles – Micromoles.
Varices – (See Esophageal varices)

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Allele - One version of a gene at a given location (locus) along a chromosome
ATP7B gene – The WD gene, encodes a copper transporting ATPase mainly expressed in the liver that is mutated and rendered absent or dysfunctional in Wilson disease.
Autosomal recessive - Describes a trait or disorder that requires the presence of two copies of a gene mutation at a particular locus in order to express observable phenotype; specifically refers to genes on one of the 22 pairs of autosomes (non-sex chromosomes).
Carrier - (Heterozygote) A person who carries one normal and one abnormal copy of a gene and therefore does not have the disease. [assuming autosomal recessive]
Chromosome - A circular strand of DNA that contains the genes and carries hereditary information.
DNA - Genetic material of all living organisms.
First-degree relative - Any relative who is one meiosis away from a particular individual in a pedigree; a relative with whom one-half of an individual's genes is shared (i.e., parent, sibling, offspring).
Gene - The basic unit of heredity, consisting of a segment of DNA arranged in a linear manner along a chromosome. A gene codes for a specific protein or segment of protein, leading to a particular characteristic or function.
Genotype - The genetic constitution of an organism or cell; also refers to the specific set of alleles inherited at a locus.
Gene sequencing (mutation screening of the entire ATP7B gene - Analysis of the entire ATP7B gene to detect and identify disease-causing mutations. An individual with confirmed Wilson disease needs to be tested first. If both mutations are identified, other family members can then be offered testing. Gene sequencing will identify both mutations in most but not all cases of Wilson disease. Useful for family members to learn if they could be affected but do not yet have symptoms, to learn they are carriers, or to allow for prenatal testing for confirmed carriers.
Haplotype analysis - (Linkage analysis) - Molecular genetic testing to identify a set of closely linked segments of DNA (a marker or set of markers), comparing the markers of family members to those of an affected patient. Useful for screening siblings of an identified patient.
Heterozygote: An individual who has two different alleles at a particular locus, one on each chromosome of a pair; one allele is usually normal and the other abnormal.
Homozygote - An individual who has two identical alleles at a particular locus one on each chromosome of a pair; a disease-affected individual.
Locus: The physical site or location of a specific gene on a chromosome.
Marker - An identifiable segment of DNA.
Molecular genetic testing - (synonyms: DNA testing, DNA-based testing, molecular testing) Testing that involves the analysis of DNA either through linkage analysis or sequencing, or one of several methods of detecting a mutation.
Mutation - A gene alteration that causes or predisposes an individual to a specific disease.
Phenotype - The observable physical and/or biochemical characteristics of the expression of a gene; the clinical presentation of an individual with a particular genotype.
Proband - The family member who is affected with a genetic disease (homozygote) whose markers are used to determine if other family members have the disease (haplotype analysis) or same mutation (mutation analysis by sequencing).
Pedigree - A diagram of the genetic relationships and medical history of a family using standard symbols and terminology.
Second-degree relative - Any relative who is two meioses away from a particular individual in a pedigree; a relative with whom one-quarter of an individual's genes is shared (i.e., grandparent, grandchild, uncle, aunt, nephew, niece, half-sibling)
Targeted mutation analysis - Analysis of a specific location in the ATP7B gene for a known particular mutation. Useful for specific populations

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