Can you have mild Wilson's disease?
The signs of Wilson's disease can be mild and may come and go over months or years, or they may be ongoing.
Wilson disease is often confused with other liver diseases such as alcoholic liver disease, fatty liver disease due to obesity, or acute liver failure due to hepatitis viruses or drugs/toxins. It can also be confused with other neurological diseases, such as Parkinson's disease or multiple sclerosis.
If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death.
Wilson disease is present at birth, but the symptoms don't appear until the copper builds up in the liver, the brain, or other organs. Some people do not have symptoms of Wilson disease before they are diagnosed with the disease and treated.
Wilson disease is fatal without medical treatment. There is no cure, but the condition can be managed. Treatment options include medications, chelation therapy and avoiding foods high in copper.
Wilson disease should be suspected in people < 40 with any of the following: An unexplained hepatic, neurologic, or psychiatric disorder. An unexplained persistent elevation in hepatic transaminases. A sibling, parent, or cousin with Wilson disease.
The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
Neurological manifestations are expected in WD because of copper deposition on multiple regions of the brain. WD's main neurologic manifestations are dysarthria, dystonia, parkinsonism, tremor, choreoathetosis, ataxia, and cognition difficulties [3,4].
A blood test can pinpoint the genetic changes that cause Wilson's disease. If you have the changed gene that causes Wilson's disease, doctors also can screen any siblings. If any have the changed gene, that sibling can start treatment before symptoms begin.
The prognosis for patients with untreated Wilson disease is poor; the median life expectancy is 40 years, with most patients dying of liver disease and a minority dying of complications of progressive neurological disease.
What is the gold standard test for Wilson's disease?
There is no completely reliable test for Wilson disease, but levels of ceruloplasmin and copper in the blood, as well as copper excreted in urine during a 24-hour period, are used to form an impression of the amount of copper in the body. The gold standard is a liver biopsy.
The triad of low ceruloplasmin, high urine copper, and Kayser–Fleischer ring differentiates Wilson disease from other copper accumulation states, the diagnosis confirmed by DNA test showing mutation of ATP7B membrane ATPase that transports copper into the Golgi apparatus.
Wilson's disease typically begins with a presymptomatic period, during which copper accumulation in the liver causes subclinical hepatitis, and progresses to liver cirrhosis and development of neuropsychiatric symptoms. The type of hepatic and neurological symptoms can be highly variable.
Other symptoms of Wilson's disease include hemolytic anemia (usually seen in manifestations with acute liver failure), kidney injury (in most cases tubular), osteoporosis, osteomalacia, arthralgia, arthritis, cholecystolitiasis, and endocrine disorders (amenorrhea and hyperthyroidism) (10).
Alcohol and Wilson's Disease
Drinking alcohol is likely to speed up and worsen the impact of Wilson's disease. If you have cirrhosis it is sensible to avoid alcohol completely.
Wilson disease is a monogenic autosomal-recessive condition and carriers do not manifest any symptoms. Autosomal-recessive conditions are not usually present in consecutive generations, but may occur in populations with particularly high carrier frequency of Wilson disease (F.
An estimated 50% of patients with Wilson disease have neurologic or psychiatric symptoms. Most patients who present with neuropsychiatric manifestations have cirrhosis. The most common presenting neurologic feature is asymmetrical tremor, occurring in approximately half of individuals with Wilson disease.
Behavioral and personality disorders are frequent psychiatric symptoms of WD. They are reported to occur in 46–71% of WD patients, and the most common manifestations are irritability, aggression and antisocial behavior.
Discussion: Wilson's disease can often mimic autoimmune disease in presentation and histology. In Wilson's disease presenting as autoimmune hepatitis, fatigue, malaise, and rashes may occur; laboratory findings included greatly elevated IgG, ANA, and ASMA levels.
Death typically occurs due to liver, kidney, or hematologic complications related to Wilson disease. Patients with cirrhosis who develop portal hypertension and varices in the esophagus and stomach are prone to bleeding, which increases the risk of death.
Is Wilson's disease hard to diagnose?
Diagnosing Wilson disease is challenging for even the most experienced doctors since it can masquerade as many other disorders and is often misdiagnosed, sometimes for many years. Early diagnosis and proper treatment is essential to prevent progression of the disease.
Wilson disease is rare. While older studies have estimated 1 in 30,000 people worldwide have it, newer studies of people's genes show it may be more common, and one study in the United Kingdom showed as many as 1 in 7,000 people have the gene mutation that is associated with Wilson disease.
Wilson disease is a rare inherited disorder. If both parents carry a defective gene for Wilson disease, there is a 25% chance in each pregnancy that the child will have the disorder. Wilson disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and eyes.
Oral examination revealed petechiae in the oral mucosa, poor oral hygiene, periodontal disease, missing teeth, and several carious teeth. Patients with WD may present systemic changes that affect dental care.
Wilson's disease is fatal without treatment (Wilson's disease, Oxford Textbook of Medicine). Chelating agents (such as penicillamine or trientine), which bond to copper in the body and are subsequently excreted, are recommended first-line for treating Wilson's disease.
References
- https://www.hawaiipacifichealth.org/healthier-hawaii/be-healthy/love-your-liver-look-for-these-8-signs-of-organ-damage/
- https://www.webmd.com/digestive-disorders/ss/slideshow-symptoms-liver-problems
- https://www.owlsnestrecovery.com/blog/11-drinks-to-help-your-liver-detox
- https://www.ninds.nih.gov/health-information/disorders/wilson-disease
- https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/wilson-disease/treatments.html
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505402/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3462326/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619026/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016193/
- https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353251
- https://pubmed.ncbi.nlm.nih.gov/25945767/
- https://www.nice.org.uk/Media/Default/About/NICE-Communities/Medicines-prescribing/ER-NHSE-trientine-wilsons-disease.pdf
- https://arizonapremiersurgery.com/2023/09/19/can-liver-problems-cause-back-pain/
- https://www.webmd.com/hepatitis/fatty-liver-disease
- https://pubmed.ncbi.nlm.nih.gov/28433113/
- https://www.bswhealth.com/blog/10-early-signs-and-symptoms-of-liver-disease
- https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/wilson-disease
- https://britishlivertrust.org.uk/information-and-support/liver-conditions/wilsons-disease/
- https://www.uofmhealth.org/conditions-treatments/digestive-and-liver-health/wilson-wilsons-disease
- https://www.ncbi.nlm.nih.gov/books/NBK441990/
- https://www.healthline.com/health/bloating-vs-ascites
- https://gi.md/test-colonoscopy/fatty-liver-disease-how-do-you-know-if-you-have-it
- https://emedicine.medscape.com/article/183456-clinical
- https://www.testing.com/tests/liver-panel/
- https://wilsondisease.org/do-i-have-wilson-disease/diagnosis/
- https://www.mayoclinic.org/diseases-conditions/wilsons-disease/diagnosis-treatment/drc-20353256
- https://www.healthline.com/health/fatty-liver-diet
- https://desertendoscopy.com/patient-education/gastroenterology-diets/low-copper-diet-for-wilsons-disease/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1856673/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824985/
- https://www.mountsinai.org/health-library/diseases-conditions/wilson-disease
- https://www.mayoclinic.org/diseases-conditions/cirrhosis/symptoms-causes/syc-20351487
- https://www.rarediseaseadvisor.com/disease-info-pages/wilson-disease-prognosis/
- https://www.sciencedirect.com/topics/medicine-and-dentistry/wilsons-disease
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022881/
- https://www.rarediseaseadvisor.com/hcp-resource/wilson-disease-life-expectancy/
- https://www.disabilitylawyerschicago.com/medical-conditions/physical-conditions/wilsons-disease
- https://rarediseases.org/rare-diseases/wilson-disease/
- https://www.pennmedicine.org/updates/blogs/health-and-wellness/2019/march/poop
- https://newsinhealth.nih.gov/2021/10/fighting-fatty-liver
- https://www.medicalnewstoday.com/articles/318775
- https://statcarewalkin.com/info/9-things-feet-tell-liver.html
- https://www.mayoclinic.org/diseases-conditions/liver-problems/symptoms-causes/syc-20374502
- https://www.medicalnewstoday.com/articles/317259
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648646/
- https://www.merckmanuals.com/home/disorders-of-nutrition/minerals/wilson-disease
- https://medlineplus.gov/genetics/condition/wilson-disease/
- https://www.stanfordchildrens.org/en/topic/default?id=common-characteristics-of-liver-disease-85-P00664
- https://pubmed.ncbi.nlm.nih.gov/28947309/
- https://www.yalemedicine.org/conditions/wilson-disease
- https://www.merckmanuals.com/professional/nutritional-disorders/mineral-deficiency-and-toxicity/wilson-disease
- https://www.healthline.com/health/liver-disease-and-itching
- https://www.mountsinai.org/health-library/symptoms/stools-pale-or-clay-colored
- https://www.mycrohnsandcolitisteam.com/resources/stool-smells-and-what-they-mean-ammonia-metal-and-more
- https://www.cancerresearchuk.org/about-cancer/liver-cancer/symptoms
- https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease/symptoms-causes
- https://journals.lww.com/ajg/fulltext/2014/10002/wilson_s_disease_mimicking_autoimmune_hepatitis_in.429.aspx
- https://www.hopkinsmedicine.org/health/conditions-and-diseases/wilson-disease
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744205/
- https://www.health.com/liver-pain-7968066