Presentation
[…] blind Information not present in EudraCT E.8.1.4Double blind Information not present in EudraCT E.8.1.5Parallel group Information not present in EudraCT E.8.1.6Cross over Information not present in EudraCT E.8.1.7Other Information not present in EudraCT [clinicaltrialsregister.eu]
An increase of copper in the urine is present in most but not all patients, and corneal Kayser-Fleischer rings are present in 50% of people with the disease. [liverfoundation.org]
In these young patients, the characteristic rusty-brown deposits in the corneas of the eyes (Kayser-Fleischer rings) may not yet be present. [rarediseases.org]
Entire Body System
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Fatigue
Other family tendencies are cluster headaches and migraines, depression, fatigue which can become chronic fatigue, sensitivity to cold, anemia, nausea, lack of dream recall, and suicides or suicidal depression. [tvernonlac.com]
Adrenal Fatigue and Copper Adrenal fatigue alone can cause Depression as the body is unable to perform the many tasks that modern society demands of us. [holistic-back-relief.com]
Copper Toxicity Self-Evaluation Symptoms of High Copper (Excess) Feelings of doom Fatigue and exhaustion Hypothyroid (slow thyroid) Mind is in a fog Headaches, migraines Mood swings Supersensitive, weepy Cold hands, and/or feet Depression Dry skin Chocolate [nutritionalbalancing.org]
Fatigue – If ATP is not produced there will not be energy, which results in chronic fatigue. Spaciness – impaired brain chemistry leads to feelings of spaciness and disorientation. Cravings for sweet or salty foods. [holistichelp.net]
Symptoms associated with hypothyroidism are fatigue, depression, brain fog, constipation, muscle cramps, excessive menstrual flow, intolerance to cold especially extremities, dry skin, dry, thinning hair, weight gain. [remedygrove.com]
Gastrointestinal
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Nausea
[PubMed: 5455992] (3 men developed copper intoxication during hemodialysis with acute onset of nausea, diarrhea and lethargy and acute hemolysis; no mention of liver test abnormalities). Chugh KS, Singhal PC, Sharma BK. [ncbi.nlm.nih.gov]
PubMed Citation (3 men developed copper intoxication during hemodialysis with acute onset of nausea, diarrhea and lethargy and acute hemolysis; no mention of liver test abnormalities). Chugh KS, Singhal PC, Sharma BK. [livertox.nih.gov]
The nausea usually abates as treatment persists. Occasionally, someone finds that nausea to persist, but lunchmeat generally helps. - Fred Askari, M.D. [wilsonsdisease.org]
These symptoms may include feeling tired nausea and vomiting poor appetite pain over the liver, in the upper part of the abdomen darkening of the color of urine lightening of the color of stool yellowish tint to the whites of the eyes and skin, called [niddk.nih.gov]
Acute liver damage may manifest as jaundice, fever, nausea and vomiting. Although mild, this condition may lead to severe damage and even liver failure. [news-medical.net]
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Abdominal Pain
Symptoms include: fatigue joint pain abdominal pain loss of libido fibrosis, cirrhosis cardiomyopathy (disease of the heart muscle) a yellowing or ‘bronzing’ of the skin Children with AAT deficiency often have poor appetite and fail to thrive. [hcahealthcare.co.uk]
They can include: Fatigue, lack of appetite or abdominal pain A yellowing of the skin and the whites of the eye (jaundice) Golden-brown eye discoloration (Kayser-Fleischer rings) Fluid buildup in the legs or abdomen Problems with speech, swallowing or [mayoclinic.org]
Acute liver failure and abdominal pain were reported in respectively 36% and 32% of patients. Lethargy and encephalopathy were observed in almost one third of patients. [eurowilson.org]
These include: Anemia Jaundice (yellowing of the skin and eyes) Nausea Abdominal pain Trouble swallowing and/or speaking Tremors Trouble walking Changes in behavior You may also need this test if you have a family history of Wilson disease, even if you [medlineplus.gov]
pain in the upper right side anaemia, vomiting blood or passing black stools (denoting altered blood) changes in mental state – altered sleep pattern (awake at night), confusion, drowsiness. [betterhealth.vic.gov.au]
Treatment
The key to long-term success of pharmacologic treatment for WD is the patient's adherence to treatment. [clevelandclinicmeded.com]
However, without any treatment, Wilson's disease is usually fatal - typically, before the age of 40. If symptoms have developed before treatment has started, some of the symptoms improve with treatment but some may remain permanently. [patient.info]
In short, the main concern with long-term treatment with zinc (as well as a concern with all other forms of treatment of Wilson's Disease) would be the potential for over treatment which may lead to copper deficiency. [wilsonsdisease.org]
Wilson Disease Treatment With proper treatment, Wilson's disease can be stopped from progressing and symptoms can often be improved. The goals of treatment are to remove the excess copper, prevent copper from building up again, and improve symptoms. [chp.edu]
Treatment may involve taking medication or getting a liver transplant. Delaying or not receiving treatment can cause liver failure, brain damage, or other life-threatening conditions. [healthline.com]
Prognosis
Wilson disease: Treatment and prognosis. . Accessed June 22, 2017. Bandmann O, et al. Wilson's disease and other neurological copper disorders. The Lancet Neurology. 2015;14:103. Wilson disease. American Liver Foundation. . Accessed June 22, 2017. [mayoclinic.org]
Diseases of the Liver and Biliary Tract: Standardization of Nomenclature, Diagnostic Criteria and Prognosis. New York, NY: Raven Press; 1994:112-3. JOURNAL ARTICLES Abuduxikuer K, Wang JS. [rarediseases.org]
Wilson's disease prognosis If treatment is begun in the early stages of the disease, it usually works very well. You can expect a normal length and quality of life. [patient.info]
Back to Top Outcomes Even with established cirrhosis or chronic active hepatitis, the prognosis is excellent for patients who adhere fully to pharmacologic therapy. [clevelandclinicmeded.com]
The earlier you find out if you have the gene for Wilson’s disease, the better your prognosis is. Wilson’s disease can develop into liver failure and brain damage if left untreated. [healthline.com]
Etiology
CHILDHOOD CIRRHOSIS ICC is a chronic liver disease seen in pediatric age group and is unique to the Indian subcontinent First reported at kolkatta in 1880 as “infantile cirrhosis” or “infantile childhood cirrhosis” and was published in 1930 Definite etiologic [histopathology.guru]
In conclusion, Indian childhood cirrhosis/idiopathic copper toxicosis is a disease of unknown etiology. [academic.oup.com]
Inhibition of glucose-6-phosphate dehydrogenase and other possible etiologic mechanisms. Arch Intern Med 1967; 120: 428-32. [ncbi.nlm.nih.gov]
Epidemiology
Pathophysiology (56) Histology, Embryology (47) Anatomy (44) Infectology (40) Surgery, Traumatology and Orthopaedics (39) Respiratory Medicine (37) Microbiology (36) Health Care Sciences (25) Emergency Medicine (24) Gastroenterology and Hepatology (23) Epidemiology [portal.mefanet.cz]
Treatments to help relieve some of the symptoms includes pain medication, anti-seizure medication, feeding tube when necessary, and physical and occupational therapy.[18] The earlier treatment is given, the better the prognosis.[19] Epidemiology[edit] [en.wikipedia.org]
Am J Epidemiology 1999 ; 149 : 689 – 93. 2008 American Society for Clinical Nutrition Related articles in PubMed [academic.oup.com]
An epidemiological study of poisoning cases reported to the National Poisons Information Centre, All India Institute of Medical Sciences, New Delhi. Hum Exp Toxicol 2005; 24: 279-85. [ncbi.nlm.nih.gov]
Pathophysiology
Medical Chemistry and Biochemistry (170) Internal Medicine (61) Paediatrics, Neonatology (60) Pathology and Forensic Medicine (59) Physiology and Pathophysiology (56) Histology, Embryology (47) Anatomy (44) Infectology (40) Surgery, Traumatology and Orthopaedics [portal.mefanet.cz]
Useful For Suggests clinical disorders or settings where the test may be helpful Diagnosing Wilson disease and primary biliary cirrhosis using liver tissue specimens Clinical Information Discusses physiology, pathophysiology, and general clinical aspects [mayocliniclabs.com]
Useful For Suggests clinical disorders or settings where the test may be helpful Diagnosing Wilson disease and primary biliary cirrhosis Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory [mayomedicallaboratories.com]
Tankanow RM, Pathophysiology and treatment of Wilson’s disease. Clin Pharm. 1991;10:839-49. Schilsky ML, et al., Prognosis of Wilsonian chronic active hepatitis. Gastroenterology. 1991;100:762-7. Woods SE, Wilson’s disease. [rarediseases.org]
Back to Top Pathophysiology Copper is an essential cofactor for many enzymes and proteins and plays a role in the mobilization of tissue iron stores. [clevelandclinicmeded.com]
Prevention
While there is a vaccine to prevent hepatitis B, there is none to prevent hepatitis C. Hepatitis A patients need maintenance of hydration and rest while the disease is tackled by the body’s immune system. [news-medical.net]
Currently, there are no guidelines to prevent Wilson disease, although there are discussions of newborn screening for this disease. However, when identified early, treatment can prevent the development of symptoms. [chp.edu]
Wilson disease is a genetic disorder that prevents the body from removing extra copper, causing copper to build up in the liver, brain, eyes, and other organs. [niddk.nih.gov]
Although you can’t prevent Wilson’s disease, you can delay or slow the onset of the condition. If you find out you have Wilson’s disease early on, you may be able to prevent the symptoms from showing by taking medications like zinc. [healthline.com]