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Wilson’s Disease: Symptoms, Diagnosis & Treatment

Scott Loeb DO
Medically reviewed by Dr. Loeb
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Scott Loeb DO
Medically reviewed by Dr. Loeb

There are a lot of rare genetic disorders. One of them is hepatolenticular degeneration or, newer name, Wilson’s Disease. It is generally characterized by the body’s inability to metabolize copper. Such illness leads to its accumulation in various organs, particularly the liver and brain. The condition may manifest differently in each individual. Its impact can be profound, affecting both physical and neurological health. Let’s delve into the complexities of Wilson’s disease, exploring its underlying mechanisms. Also, examining diagnostic challenges and available treatment options is pivotal. Despite its rarity, Hepatolenticular degeneration poses significant clinical implications. They require careful management and ongoing medical supervision.

Shedding light on this lesser-known condition makes a great deal. We aim to raise awareness among healthcare professionals and the general public. Also, we facilitate early detection, timely intervention, and improved outcomes. It is crucial for individuals affected by such illness. We demonstrate a comprehensive understanding of its nuances and subtleties. Thus, we strive to empower patients and healthcare providers to cope with the complexities of this genetic illness.

What is Wilson’s Disease?

This rare genetic disorder is usually characterized by the body’s inability to metabolize copper. It accumulates high copper levels in various organs, particularly the liver and brain. Mutations in the ATP7B gene usually cause this condition. It encodes a protein responsible for transporting excess copper out of the body through bile. Without the proper function of this protein, copper builds up in the liver and eventually spills into the bloodstream. It causes damage to other organs, such as the brain, kidneys, and eyes. Wilson’s disease can manifest with a range of signs. They include fatigue, jaundice, abdominal pain, and neurological problems. Among them are tremors and difficulty walking, and psychiatric symptoms such as depression and anxiety.

If left untreated, such illness can lead to severe complications. They include liver failure and neurological damage. Early detection and treatment are crucial for managing Wilson’s disease. Treatment typically involves lifelong use of medications. They help to remove excess copper from the body and dietary modifications to restrict copper intake. In some cases, liver transplantation may be necessary for individuals with severe liver damage.

High Copper Levels: The Core Issue in Wilson’s Diseasmain-Issue-with-wilsons-disease

In this genetic disorder, abnormal copper levels pose a significant health risk. They impact various organs and bodily functions. Here’s a closer look at the role of high copper levels in this condition:

  • Accumulation in Organs: Excess copper accumulates in the liver, brain, and eyes. It leads to tissue damage and dysfunction.
  • Liver Damage: High copper levels in the liver can cause inflammation, scarring, and impaired liver function. It contributes to a range of symptoms and complications.
  • Neurological Symptoms: Copper accumulation in the brain can lead to neurological signs. Among them are tremors, muscle stiffness, and cognitive impairment. They affect both motor and cognitive function.
  • Blood Copper Levels: Monitoring copper levels in blood is crucial for diagnosing and managing illness. Elevated levels can indicate copper accumulation and potential organ damage.
  • Ocular Manifestations: In some cases, they can also affect the eyes. It leads to Kayser-Fleischer and golden-brown rings around the cornea.
  • Treatment Target: Lowering copper levels through medication and dietary modifications is crucial. It aims to prevent further organ damage and alleviate symptoms.

Understanding the core issue of high copper levels is essential. It helps for accurate diagnosis, effective treatment, and improved outcomes for individuals affected.

Symptoms of Wilson’s Disease

symptoms-of-wilsons-diseaseThe typical clinical picture encompasses a diverse array of manifestations. They reflect the multisystem nature of this condition. It is from hepatic dysfunction to neurological impairment and ocular abnormalities. The symptoms of Wilson’s disease can vary widely in presentation and severity. Understanding the spectrum of manifestations is crucial for timely diagnosis and intervention. Early recognition and management can mitigate disease progression and improve patient outcomes.


Individuals often experience persistent and overwhelming tiredness that can impact daily functioning. This fatigue may result from liver dysfunction, which can impair energy metabolism and lead to decreased stamina. Neurological disorders may contribute to fatigue. This is due to disturbances in sleep patterns or energy regulation. Managing fatigue in Wilson’s disease typically involves addressing underlying liver and neurological complications.


Jaundice manifests as yellowing of the skin and eyes due to liver damage. Excess copper buildup in the liver impairs its ability to process bilirubin, a waste product of red blood cell breakdown. Consequently, bilirubin accumulates in the bloodstream, leading to the characteristic yellow discoloration. Jaundice often indicates advanced liver involvement. It necessitates prompt medical attention to mitigate further liver damage. 

Abdominal pain and swelling

Abdominal pain and swelling are hallmark symptoms of Wilson’s disease. The accumulation of copper in the liver can lead to inflammation and enlargement. It results in discomfort and bloating in the upper right abdomen. This pain may vary in intensity and can be generally accompanied by nausea or vomiting. Addressing the underlying cause of liver dysfunction is essential in managing abdominal signs.

Easy bruising

Liver dysfunction can lead to decreased production of clotting factors. It results in a tendency to bruise easily. Its impaired function can hinder the breakdown of old red blood cells, contributing to increased bruising. Monitoring bruising frequency and severity can aid in diagnosing and managing Wilson’s disease.

Changes in neurological function

Wilson’s disease can manifest with changes in neurological function. It may be tremors, difficulty walking, and cognitive impairment. Copper accumulation in the brain disrupts normal neurological processes. It leads to signs like involuntary movements, coordination problems, and cognitive decline. If left untreated, these changes may progress over time, affecting speech, memory, and overall brain function. Early detection and treatment are crucial to prevent or cut neurological complications.

Wilson’s Disease Diagnosis

Diagnosing this illness can be complex and multifaceted. A comprehensive approach will confirm the presence of the condition accurately. Here’s an overview of the critical aspects involved in Wilson’s disease diagnosis:

Clinical Evaluation:

  • Symptom Assessment: Physicians test the patient’s medical history and conduct a physical examination. It helps to assess signs of disease. Among them are hepatic dysfunction, neurological abnormalities, and ocular manifestations.
  • Family History: A family history of Wilson’s illness or unexplained liver disease may raise suspicion. Also, it prompts further investigation.

Laboratory Tests:

  • Copper Studies: Blood tests are generally conducted to measure copper and ceruloplasmin levels. It is a protein that binds to copper. Reduced ceruloplasmin levels alongside elevated copper levels may indicate Wilson’s disease.
  • Liver Function Tests: Assess liver enzymes and function to detect signs of hepatic dysfunction. Among them are abnormal bilirubin levels or elevated liver enzymes.

Imaging Studies:

  • Liver Imaging: Imaging ultrasound, CT scans, or MRI may assess liver size. Also, they can detect abnormalities and test for signs of liver damage or cirrhosis.
  • Brain Imaging: MRI or CT scans of the brain may be generally performed to assess for neurological abnormalities. Among them are copper deposition or structural changes.

Genetic Testing:

  • DNA Analysis: Genetic testing may identify mutations in the ATP7B gene. It is responsible for copper transport and metabolism. Specific mutations can confirm a diagnosis of Wilson’s disease. This is particularly true in cases where clinical and laboratory findings are inconclusive.

Copper Accumulation Testing:

  • 24-Hour Urinary Copper Test: This test measures the amount of copper excreted in the urine over 24 hours. Elevated urinary copper levels may indicate excessive copper accumulation in the body. It supports a diagnosis of Wilson’s disease.

Liver Biopsy (if necessary):

  • A liver biopsy can sometimes check liver tissue. Sometimes, it may be a sign of copper accumulation, inflammation, fibrosis, or cirrhosis. It provides additional diagnostic information.

A thorough Wilson’s disease diagnosis requires collaboration between healthcare professionals from various specialties. They include hepatology, neurology, and genetics. Such specialists assess clinical findings, laboratory results, and imaging studies. Early detection and intervention are crucial in managing Wilson’s disease. It is also pivotal for preventing irreversible organ damage.

Wilson’s Disease Treatments

wilsons-disease-treatmentsManaging such illness therapy involves a combination of pharmacological and non-pharmacological interventions. They aim to reduce copper accumulation, prevent organ damage, and alleviate signs. Here are the critical aspects of Wilson’s disease treatment:

Copper Chelation Therapy:

  • D-Penicillamine: This chelating agent binds to excess copper in the body. It facilitates its excretion through urine. D-penicillamine is often the first-line treatment for Wilson’s disease. It helps reduce copper levels.
  • Trientine: This is an alternative copper chelator. It is always used when D-penicillamine is not tolerated or contraindicated. Similar to D-penicillamine, trientine binds to copper and promotes its elimination.

Zinc Supplementation:

  • Zinc Acetate or Zinc Sulfate: Zinc acts as a competitive inhibitor of copper absorption in the intestines. It reduces copper uptake. Zinc supplements are commonly used for maintenance healing. It is pivotal after initial copper reduction through chelation therapy.

Dietary Modifications:

  • Low-Copper Diet: Patients must follow a low-copper diet, avoiding high-copper foods. Among them are shellfish, nuts, chocolate, and organic meats.
  • High-Protein Diet: A high-protein diet may promote the binding of copper in the intestines. It reduces its absorption.

Monitoring Ceruloplasmin Levels:

  • Ceruloplasmin Levels in Wilson Disease: This is a copper-binding protein synthesized in the liver. In such illnesses, impaired copper metabolism often decreases ceruloplasmin levels. Monitoring ceruloplasmin levels can help assess response to treatment and disease progression.

Liver Transplantation (in severe cases):

  • For people with advanced liver disease or those who do not respond to drug therapy, a liver transplant may be necessary. Liver transplantation can effectively replace the dysfunctional liver with a healthy donor liver. It restores normal liver function and improves overall health.

Ongoing Monitoring and Management:

  • Monitoring copper levels, liver function tests, and neurological status is essential. They help to assess treatment response and adjust therapy as needed.
  • Long-term adherence to treatment and close follow-up with healthcare providers is crucial. It helps manage Wilson’s disease and minimize the risk of complications from the illness.

A practical Wilson’s disease treatment tactic. It addresses copper accumulation and associated signs, which is essential. Individuals with such illness can effectively manage it and lead fulfilling lives. Early diagnosis, timely intervention, and adherence to treatment regimens are pivotal. They help in optimizing outcomes for patients with disease.


This illness presents a complex interplay of symptoms, diagnosis, and treatment modalities. Early recognition symptoms of Wilson’s disease. Among them are hepatic dysfunction, neurological deficits, and ocular manifestations. Early distinction is crucial for timely intervention. Diagnostic approaches include clinical evaluation, laboratory tests, imaging studies, and genetic analysis. They aid in confirming the diagnosis. Treatment strategies include several aspects. If necessary, copper chelation therapy, zinc supplementation, dietary modification, and liver transplantation. They aim to mitigate copper accumulation and alleviate symptoms. Through comprehensive management, individuals with Wilson’s disease can achieve improved outcomes.


Can Wilson’s Disease be cured?

Wilson’s Disease is incurable, but it can be effectively managed with treatment. It helps to control copper levels and alleviate symptoms.

What type of doctor treats Wilson’s disease?

Hepatologists typically treat Wilson’s Disease. He specializes in liver diseases.

How is Wilson’s Disease inherited?

Wilson’s Disease is always inherited in an autosomal recessive pattern. This means an individual must inherit two copies of the defective gene, one from each parent, to develop the condition.

Is Wilson’s Disease common?

Wilson’s Disease is generally considered rare. It happens with an estimated prevalence of around 1 in 30,000 individuals worldwide.

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Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
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Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been more
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Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
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Leslie Durham
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I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your more
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I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
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It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any more
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Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
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I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going more
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I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my more
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The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to more
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I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 more
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Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his more
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Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best more
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I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my more
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03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
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Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
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Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding more
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I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
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15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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