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Wilson's Disease Treatment in Toluca Lake, CA

Wilson’s Disease Treatment in Toluca Lake, CA

Are you struggling with chronic fatigue, loss of appetite, trembling, or anxiety? Is jaundice (yellowing) or other unexplained changes affecting your skin or eyes? You may be experiencing Wilson’s disease, a rare genetic disorder that disrupts your liver and brain functions.

Wilson’s disease occurs when your body stores an overabundance of copper, causing wide range of symptoms. This serious condition requires medical attention and monitoring. Left untreated, Wilson’s disease can potentially be fatal.

Treating your symptoms may improve your quality of life and minimize the impact of Wilson’s disease on your happiness and health. To speak with a specialist in Toluca Lake today, call (424) 365-1800 or contact Dr. Jeremy Fischer online.

What are the Symptoms of Wilson’s Disease?

Though Wilson’s disease is genetic, symptoms typically don’t occur until an unhealthy amount of copper builds up in the brain, liver, or other organs, gradually damaging these organs.

Wilson’s disease usually affects people between the ages of 5-35, but it can occur in people of any age.

Usual symptoms include:

  • fatigue
  • lack of appetite
  • yellowing of eye whites and skin (jaundice)
  • golden-brown eye discoloration (Kayser-Fleischer rings)
  • fluid accumulation in abdomen and legs
  • trembling
  • anxiety
  • depression
  • easy bruising
  • trouble with speaking, swallowing, walking, and physical coordination
  • uncontrollable muscle movements or stiffness

A strong sign of Wilson’s disease is an eye condition called Kayser-Fleischer rings. This condition causes golden-brown eye discoloration around your eyes’ irises and is a sign of neurological damage. While this condition does not alter your vision, it is the single most important diagnostic sign of Wilson’s disease. 1

However, it is important not to confuse this symptom with a part of the eye called the limbal ring. This is a naturally occurring dark ring around your eye’s iris.

Blue eye showing Kayser-Fleischer ring around iris, a strong symptom of Wilson’s Disease
Blue eye showing natural limbal ring around iris

You may or may not have a pronounced limbal ring, as eye anatomy varies from person to person. In most cases, the dark ring around your irises is the limbal ring and not a symptom of Wilson’s disease. Check with your eye doctor if you suspect you have Kayser-Fleischer rings.

Wilson’s disease is a potentially life-threatening condition. Left untreated, copper buildup can cause severe damage to your liver and brain. This buildup may cause death if left unchecked. Getting medical attention to diagnose or rule out Wilson’s disease is extremely important.

What Causes Wilson’s Disease?

This condition is genetically inherited as an autosomal recessive trait. This means you must inherit one copy of the defective gene from each parent. If you inherit just one abnormal gene, you won’t have Wilson’s disease, but you can pass the gene to your children.

Because Wilson’s disease is genetic and not an infection, you can’t “catch” it from other people. Only those carrying a very specific gene type are at risk of developing Wilson’s disease.

You may be at increased risk for Wilson’s disease if your parents or siblings have it. If they do, speak with your doctor about getting tested for this condition. Early diagnosis and treatment greatly increases your chance of managing the condition before it causes irreversible liver or brain damage.

How is Wilson’s Disease Diagnosed?

To diagnose or rule out this condition, your doctor will perform a series of physical examinations and laboratory tests.

Physical exam

Your doctor will examine your eyes for Kayser-Fleischer rings (see “Symptoms” for description) using a slit lamp. Wilson’s disease is also associated with a certain type of cataract, called a sunflower cataract, that this exam will reveal.

Lab tests

Your doctor will draw a sample of your blood and test it for signs of abnormal liver function, the level of a protein called ceruloplasmin that binds copper to your blood, and the level of copper in your blood. Your doctor will also test your urine sample for copper levels.

Biopsy

To examine a small part of your liver, a surgeon will insert a thin needle into your skin and draw out a tiny sample of your liver. A lab will then test it for excess copper content.

Genetic testing

A blood test can determine whether you have a genetic markers for the mutations that cause Wilson’s disease. This test also lets your doctor know whether your other family members may have Wilson’s disease, so diagnosis and treatment can be performed before the condition starts causing harm.

How Is Wilson’s Disease Treated?

Currently, there is no cure for Wilson’s disease. It’s treated by taking medications, making lifestyle changes, or having a surgical procedure (in severe cases).

Treatment includes removing excess copper from your body, reducing your intake of copper-rich foods, managing your symptoms, and treating liver or neurological damage that may have occurred.

Medications

You’ll typically take medications to manage Wilson’s disease for the rest of your life. These medications include:

  • penicillamine and trientine: to help remove copper from your organs and release it into your bloodstream, where it can be filtered out by your kidneys
  • zinc: to keep your digestive tract from absorbing copper

Penicillamine and trientine present a risk of side effects. These include:

  • worsening neurological symptoms
  • fever
  • rash
  • negative effects on kidneys and bone marrow
  • higher risk of having children with birth defects
  • blocking vitamin B-6 (you’ll be given supplements to counteract this)

Zinc is usually given as a maintenance therapy once the excess copper is removed from your body. Zinc is generally safe, but it may cause stomach upset.

Surgery

If you have severe liver damage, you may need a liver transplant. This involves surgical removal of your affected liver and implantation of a healthy one from a donor.

Most transplanted livers come from donors who have passed away, but in some cases a family member can give you a portion of liver. Your doctor will discuss these details should you need a liver transplant.

Lifestyle and Home Remedies

Your doctor will advise you to limit or eliminate the amount of copper-rich foods you eat and to avoid vitamin supplements that contain copper. You should also have your tap water tested for copper levels, especially if your home has copper pipes.

Your doctor will recommend you limit or eliminate these foods from your diet:

  • nuts
  • chocolate
  • shellfish
  • mushrooms
  • liver

What Are Potential Complications of Wilson’s Disease?

If left untreated, Wilson’s disease can cause a number of serious complications. These include:

  • neurological problems: trembling, muscle spasms, and difficulty walking or speaking can usually be helped with treatment. However, some people may experience these complications permanently
  • kidney conditions: damage to the kidneys can cause kidney stones and an excretion of an abnormal level of amino acids
  • psychological complications: personality changes, depression, anxiety, mood swings, bipolar disorder, or psychosis
  • blood problems: destruction of red blood cells can cause anemia and jaundice

If ignored or not properly diagnosed, Wilson’s disease may be fatal. Death may result from a number of severe complications, including:

  • liver scarring (cirrhosis): scarring occurs when liver scars to repair damage caused by excess copper. This makes it difficult for your liver to function properly and may eventually cause liver failure
  • liver failure: may occur suddenly or develop slowly over years. If liver failure occurs, a transplant may be available to you

Reserve Your Appointment Now

Wilson’s disease is a rare but serious medical condition that can severely impact your health and quality of life. If you suspect you have symptoms of Wilson’s disease, don’t wait—seek medical attention immediately to diagnose or rule out this condition, especially if your family members have Wilson’s disease.

A specialist may be able to help reduce or eliminate the pain and symptoms of Wilson’s disease. To speak with a specialist in Toluca Lake, call (424) 365-1800 or contact Dr. Jeremy Fischer online today.

1. Sullivan, C. A. "Dense Kayser-Fleischer Ring in Asymptomatic Wilsons Disease (hepatolenticular Degeneration)." British Journal of Ophthalmology 86, no. 1 (2002): 114. Accessed May 14, 2018. doi:10.1136/bjo.86.1.114.
Sources:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1770985/
https://articles.mercola.com/sites/articles/archive/2017/11/04/eyes-limbal-ring.aspx
https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353251
https://www.genome.gov/27532725/learning-about-wilson-disease/
https://www.hopkinsmedicine.org/news/publications/inside_tract/inside_tract_winter_2015/a_new_look_at_wilsons_disease

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Vitality Integrative Medicine
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4849 Van Nuys Blvd
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(424) 365-1800
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