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Wilson Disease: When copper causes seizures and tremors

Some people spend a long time and need multiple visits to doctors before the condition is diagnosed because it is rare and often not on a doctor’s radar. Also, the problems it causes are similar to other more common diseases leading to misdiagnosis before it is finally detected. Although people have Wilson Disease from birth, health problems are only noticeable later in life.

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  My Diagnosis and Recovery Process

Here it is a list of symptoms that I experienced, meds, and possible diagnoses that happened over this period of time, a whole year to be exact. I was 20 years old:

 Wilson’s Disease with Naseem Amin

In this episode we are exploring Wilson’s disease and the FDA-approved treatment, Cuvrior.

Articles of Interest

5 interesting facts about Wilson disease

Wilson disease is usually treatable with lifelong therapies, but without treatment, it can lead to high copper levels and potentially fatal organ damage. We share five interesting facts about this rare disease.

A boy diagnosed with Wilson disease

Wilson disease results from mutations (gene abnormalities) in the ATP7B gene, which encodes essential regulators of copper excretion in bile. This leads to the accumulation of copper in the liver and then other tissues, including the brain and kidneys, which manifest as liver disease (e.g., hepatomegaly, acute hepatitis, chronic hepatitis, cirrhosis), neurological disorders (e.g., ataxia, tremors, dysarthria, choreoathetosis, dystonia, intellectual disability), Kayser-Fleischer in the cornea, as well as renal and hematological complications.

A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment

Diagnosis is complicated by mild, non-specific presentations, mutations exerting no clear effect on protein function, and inconclusive laboratory tests, particularly regarding serum ceruloplasmin level.

Behind the Mystery of Wilson Disease: A Rare, Inherited Disorder That Results in Copper Building Up in the Organs

Ginta, a Wilson disease patient, discusses her journey with the disease and how she is managing her condition today. We also met with hepatologist Dr John M. Vierling and neurologist Dr Danny Bega who discuss the signs and symptoms to obtain a diagnosis and the importance of adhering to your physician’s management plan.

BrainFacts.org

The most characteristic sign of WD is the Kayser-Fleisher ring – a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist’s slit lamp.

Episode 4: What is Wilson’s Disease?

If you haven’t thought about copper in a while, you’re overdue! Wilson’s Disease is one of the rare conditions with nutrition implications. The condition impacts how the body processes copper.

Making Every Day Count: Mason's Story

Eventually, one of the students at the hospital put it all together: I had Wilson's Disease. It's a rare genetic disease—only one in 30,000 people have it—so it's not something you normally get tested for. In fact, after I was diagnosed, over a hundred doctors came to see me!

The patient-reported experience of living with Wilson disease

The data expand the existing knowledge of this rare neurometabolic disease with heterogeneous clinical manifestations.

What is Wilson's disease?

Copper begins to accumulate immediately after birth but the symptoms usually appear in the 2nd to 3rd decade. The first signs are hepatic (liver) in about 40% of cases, neurological (brain) in about 35% of cases and psychiatric, renal (kidney), haematological (blood), or endocrine (glands) in the remainder.

Wilson Disease

I’m excited to introduce the topic of Wilson disease on my blog in order to raise awareness and understanding of this rare disease. The following post is reprinted with permission from my daughter, Schyler who wrote it for her Middle School biology class. I couldn’t have explained it better myself!

Wilson Disease: Never Too Late . . .

The prognosis for treated Wilson disease is excellent, including in those with more advanced liver disease and, hence, the importance of considering the diagnosis even in older patients.

Wilson’s disease at a glance

Wilson disease (WD) is an orphan, inherited, progressive and severely debilitating disorder of copper metabolism which is lethal if left untreated.

Wilson’s Disease: Diagnosis in Novel Way

Wilson’s disease is a Genetic disorder that can have a variety of presentations and can be controlled if detected early. The treatment modality is lifestyle modification, proper follow-up, and physiotherapy. If disease control is not achieved after initial treatment, titrating the dose of chelating agent is indicated to prevent the damage of the internal organs.

Wilson’s Disease: The Copper Connection

WD is a rare but important cause of liver disease with many extrahepatic manifestations. Its complex genetics yield a spectrum of phenotypes seen in clinical practice. While untreated disease can lead to end-stage liver disease and devastating neurological consequences, timely identification and treatment is generally associated with a good prognosis.

Wilson’s disease: the importance of measuring serum caeruloplasmin non-immunologically

Wilson’s disease should be considered as a possible diagnosis in any child, adolescent or young adult with liver damage without other explanation, especially when haemolysis is present. However, it may also present in adolescents or young adults with neurological signs conŽ ned to the motor system. The Ž rst diagnostic screening test is the estimation of the serum caeruloplasmin and total serum copper concentrations, with calculation of the serum non-caeruloplasmin-bound (‘free’) copper.

Wilson’s Disease: What A Parent Should Know?

The disease can be either progressive or severe in different patients. Humans get copper from their food, and the body flushes out the excessive copper through the bile. Due to genetic misconfiguration, a child affected with the disease cannot flush the extra amount of copper through their bile, and it keeps getting accumulated. While a minor amount of copper is needed for regular cellular health, it can be toxic if present in elevated levels.

Resources

6 Interesting Facts about Wilson’s Disease

Wilson disease is an uncommon ailment that affects 30,000 to 40,000 people around the world. It affects both men and women in equal numbers, and it can be found in people of all colours and ethnicities. Only roughly one out of every 90 people are thought to be a carrier of the disease gene.

Wilson Disease Association

The WDA aspires to unmask the challenges of Wilson disease and unleash the promise of a cure.

Wilson’s Disease Policy Network

The Wilson’s Disease Policy Network is a European multidisciplinary alliance that aims to drive greater awareness, momentum and engagement from policymakers.

Zero to Finals

Wilson disease is the excessive accumulation of copper in the body and tissues. It is caused by a mutation in the “Wilson disease protein” on chromosome 13. The Wilson disease protein also has the catchy name “ATP7B copper-binding protein” and is responsible for various functions, including the removal of excess copper in the liver. Genetic inheritance is autosomal recessive.

Physiopedia

Wilson's disease typically manifests into two common presentations: Liver disease or neurological symptoms, due to these organ's large involvement in the accumulation of copper. Symptomatic adolescents will tend to experience more symptoms related to liver pathologies, while older adults will experience neurological signs and symptoms.

StatPearls

The genetic defect is localized to long arm of chromosome 13 (13q), which has been shown to alter the copper transporting ATP gene in the liver. The majority of patients with Wilson disease present within the first decade of life with liver dysfunction