Topic: Wilson disease
Question: What are the symptoms of Wilson disease ?
Answer: What are the signs and symptoms of Wilson disease? Wilson disease can affect many different systems of the body. Affected people often develop signs and symptoms of chronic liver disease in their teenaged years or early twenties. These features may include jaundice; abnormal fluid retention which can lead to swelling of the legs and/or abdomen; weight loss; nausea and vomiting; and/or fatigue. Unfortunately, some people may not experience any signs until they suddenly develop acute liver failure. Affected people often experience a variety of neurologic (central nervous system-related) signs and symptoms, as well. Neurologic features often develop after the liver has retained a significant amount of copper; however, they have been seen in people with little to no liver damage. These symptoms may include tremors; muscle stiffness; and problems with speech, swallowing and/or physical coordination. Almost all people with neurologic symptoms have Kayser-Fleisher rings - a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist's slit lamp. About a third of those with Wilson disease will also experience psychiatric (mental health-related) symptoms such as abrupt personality changes, depression accompanied by suicidal thoughts, anxiety, and/or psychosis. Other signs and symptoms may include: Menstrual period irregularities, increased risk of miscarriage and infertility in women Anemia Easy bruising and prolonged bleeding Kidney stones Early-onset arthritis Osteoporosis The Human Phenotype Ontology provides the following list of signs and symptoms for Wilson disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kayser-Fleischer ring 90% Polyneuropathy 5% Aminoaciduria - Atypical or prolonged hepatitis - Autosomal recessive inheritance - Chondrocalcinosis - Cirrhosis - Coma - Dementia - Drooling - Dysarthria - Dysphagia - Dystonia - Esophageal varix - Glycosuria - Hemolytic anemia - Hepatic failure - Hepatomegaly - High nonceruloplasmin-bound serum copper - Hypercalciuria - Hyperphosphaturia - Hypoparathyroidism - Joint hypermobility - Mixed demyelinating and axonal polyneuropathy - Nephrolithiasis - Osteoarthritis - Osteomalacia - Osteoporosis - Personality changes - Poor motor coordination - Proteinuria - Renal tubular dysfunction - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)