Understanding Wilson's Disease

This video contains a detailed and simplified explanation about Wilson's disease. We discuss cause of Wilson's disease, the pathophysiology, presentation, investigations and management.

*CORRECTION* The motor symptoms in Wilsons disease are often ASYMMETRICAL. The video states the motor symptoms are typically symmetrical, which is inaccurate.

*CORRECTION* A LOW serum caeruloplasmin is indicative of Wilsons (not a raised level).

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DISCLAIMER: This video is for education and entertainment only, and is not medical advice. This video should NOT be used for medical advice or to guide clinical practice. The Zero to Finals content should not be used in any way to guide medical decision making. Zero to Finals takes no responsibility for any actions taken or not taken based on the information provided. Local and national guidelines and senior clinicians are there to help you make decisions, not YouTube videos. If you need medical advice or information, seek it from an appropriately trained and licenced doctor or healthcare provider that can address your individual needs. Zero to Finals cannot guarantee the accuracy of information in this video. Please highlight any errors you notice in the comments below - thank you.

[celineshoes_lalisa]

My aunt and uncle are first cousins and they married 25-30 years back. Today, their 3 out of 6 children have this disease. They take copper chelating medicine on a regular basis and that’s what helps them get rid of excessive copper in their body. To whomsoever this may concern, you can live with the disease and have a normal lifespan if you promptly treat the disease. Wishing you happiness and praying for you to have a long and prosperous life.

[loriespohn]

I was extremely ill with Wilson's Disease in the late 1970s and all through the 1980s. My symptoms were neurological and psychiatric. I have been fine for decades and have a completely normal life.

[billkuo]

- In Wilson's disease, ↑ Free serum copper, but ↓ total serum copper.
- Total body copper consists of ∼ 10% free copper and ∼ 90% ceruloplasmin-bound copper.
- As tests detect copper bound to ceruloplasmin, total serum copper concentrations decrease with decreased serum ceruloplasmin levels.
- Note that due to reduced incorporation of copper into apoceruloplasmin, less ceruloplasmin (copper transport protein) is formed.

[mrcmrade]

As a person who has been diagnosed with the actual disease myself this video helps

[kukkucjayamon]

Not even a medico, still knows almost everything in brief 😅😅.. Credit goes to zero to finals.. ❤️😍😍😍😍😍.. Keep up the work

[LaraRoxxreal]

I was diagnosed with Wilson’s disease in 92 and I learned some stuff today

[vishwasghag]

I have started ayurvedic treatment for one patient and result is just a miracle

[kristinclem]

I've had this desease since 2001. It almost killed me, but i'm doing great now. My liver is almost back to normal again. I still have some neurological things like cramps and muscle stiffness. I had all the symptoms, both neurological and liver. good video.

[dohoang]

Great presentation, very clear, consise and informative. Thanks

[TexasElectrician]

Zero to finals- please respond because my son is in the Memorial Hermann hospital in the Houston, Tx. Medical center due to cirrhosis of the liver caused by Wilson’s disease. The more I learn about this disease the more I realize how terrible it is. He is depressed, but I thought that was mostly due to the overall situation. He hasn’t shown neurological signs otherwise. He was perfectly normal and fine up until about two months ago. Fatigue, vomiting blood and other symptoms drove him to the ER. It still took several hospital visits before these “doctors” realized and correctly diagnosed what was wrong.
As a man of fifty-two years and extensive experience with hospitals and doctors, the best advice I could give to any medical student, nurse or doctor is this: NEVER PRESUME A DIAGNOSIS OR ASSUME THAT A PATIENTS LIKELY CONDITION IS THE CORRECT AND TRUE DIAGNOSIS!!! The doctor automatically assumed, and in fact accused my son of being an alcoholic because he had severe cirrhosis of the liver. At twenty four years old.
Sure, sounds logical to me.
Asshole. Like most “medical professionals” are. Don’t be that.

[guncontrolisusingbothhands]

The genome was mapped and the Wilson's gene has been found. It is now known that the Wilson's disease defect is in the binding of copper. It is a defect in the ATP7B gene and there are 6 binding exons on the gene. There are over 400 mutations that have been identified and more are being added to the database each year. In most mutations, only part of the exons aren't binding to ceruloplasmin, which still allows the body to bind and evacuate some copper, so the free copper gradually builds over time. In the rare severe mutations none of the 6 exons are binding copper and the free copper builds up in childhood. The defect is not in the inability to produce ceruloplasmin, as once thought, but the disease is caused by defective ceruloplasmin that won't bind copper. There are 2 types of copper, bound and unbound. Bound copper is non toxic and actually used by the body, but the unbound is toxic and like a heavy metal. In a normal person 5-10% should be unbound copper. How do you estimate free, or unbound to ceruloplasmin copper? You can do it by 2 methods. The old method, which is not that accurate is called an indirect measurement of free copper. You have your Ceruloplasmin (Cp) tested, along with your serum copper. Then you multiply the Cp x 3 and subtract it from the total serum copper which will give you the amount of free copper. Remember, the serum copper by itself will not be a diagnostic tool. The serum copper is a measurement of the total copper both bound and unbound. You must estimate the ratio of bound to unbound to see if you have a binding problem which is Wilson's disease. The 2nd method is a direct measurement of free copper lab test and it's the most accurate. Only a few labs are doing this test in the US, and Lab Corp is one of them. The free copper test # at Lab Corp is 279071. This is the test number at Oklahoma Lab Corps, and they may differ at the Lab Corp in your state. As far as the 24 hour urine copper test, it is not worth a sh*t. Medical literature says that this is the most accurate test, but it's worthless. Control group studies have been done and come to find out, people with Wilson's disease actually secrete less copper out their urine that normal people do. The only way this test is any good is if it's used with the penicillamine challenge, where they administer the drug to mobilize copper from the tissue before the test. Penicillamine is so toxic and has so many side effects that it should not be used period. There are much safer drugs out there. Penicillamine has put people into a permanent vegetative state because it is too aggressive at mobilizing the free copper and floods the brain with free copper. Zinc is a safe but slow chelator of copper. The compound ammonium tetrathiomolybdate (TM) is also safe and much faster than zinc. If you have one of the mutations where the liver is storing the copper, you need to use trientine. New research is now showing that liver involvement is rare in Wilson's disease. It's still a mystery why some people's livers start storing the copper and others don't. Family members with the same mutation have been found and only one person in the family has copper liver storage. New research is also showing an elevated free copper is the cause of schizophrenia, Parkinson's, ALS, Alzheimer's and Tourettes. Anyway, you can't rely on the medical books when it comes to Wilson's disease because they have inaccurate outdated information. If you think you have it, just go get the direct measurement of free copper lab test done. If the free copper is high, this means you have a problem. If the free copper is below normal, this means you also may have a problem, because when the liver starts storing the copper, it causes it to be low in the blood. The body produces Ceruloplasmin by the amount of copper it detects in the blood and when the liver starts storing it and the blood becomes low, the Ceruloplasmin production will be turned off by the body and it will become low. Most people with Wilson's will have a normal serum copper and a normal Ceruloplasmin. As mentioned before, it's not an inability to produce Cp, but it's defective Cp that can't bind copper that causes the problem. Just get the free copper test and start taking zinc 50mg 3 times a day, one hour before or 2 hours after meals. Zinc is a primer for metallothionein in the intestines, which latches on to the copper. Since the intestinal cells turn over every 8 days and new ones are formed, the old metallothionein copper filled cells are sloughed off out the stool and the process starts all over. This is how zinc gets copper out of the bloodstream. Zinc also blocks its absorption. It takes 9-12 months for zinc to bring a person to a non toxic copper state, whereas TM can do it in 2 weeks. In 8 weeks TM can totally decopper the body whereas zinc will take several years. Once decoppered you still need to take zinc daily to prevent the free copper from building back up.

[Craigdna]

Excellent presentation and I hope your endeavors were successful. Very informative and you have a gift for presentations. Thanks again.

[anshuchoudhary]

This is a very helpful video. I have a friend who has Wilson's Disease.

[TurbulentDreamsStark]

My son has Wilson's disease with liver, neurological and psychiatric symptoms, been on penicillamine for 10 years, very poorly by the time he was diagnosed aged 26

[mehmedmehmed]

Very helpful videos, thank you for your job!

[alicesummers]

Hi, I have a question -


My notes say there should be:
reduced serum caeruloplasmin
reduced serum copper (counter-intuitive, but 95% of plasma copper is carried by ceruloplasmin)
increased 24hr urinary copper excretion


Presumably serum caerulosplasmin and copper are reduced because the copper is all deposited in the tissues.
But why is there Increased urinary excretion? I thought the whole thing is that it's trying to hold on to copper so there would be less excreted? Thank you!

[komalagariya]

Blood Ceruloplasmin level is decreased in case of wilson's

[digi_]

I have the ring in my cornea..other than that no other symptoms..I m 23..my liver ultrasounds and lfts are normal..what should i do

[howtomedicate]

Amazing video, as always. Entertaining, and above all informative!

[Lolpoopie]

Can Wilson's disease also cause adhd In some people?