A Patient's Guide: Wilson's Disease Test, Procedure, Results, and Diagnosis
Wilson's Disease is a rare disorder, only affecting about 30,000 to 40,000 people worldwide. It's understandable to feel alone when you're facing the possibility of a Wilson's Disease diagnosis and a Wilson's Disease Test.
Wilson's Disease is fatal if not treated, but despite the seriousness of its symptoms, it's very treatable and easy to detect with the proper blood test and a little research, so you know what you're facing.
If you're preparing for a Wilson's Disease test, then keep reading this guide. You'll find out everything you need to know about Wilson's Disease and the testing you need to arrive at a diagnosis.
What Is Wilson's Disease?
Wilson's Disease is a rare genetic disorder where your body is unable to filter out excess copper. Copper is essential and plays a massive role in developing healthy bones, nerves, and collagen.
Normally, you absorb copper from your food, and the excess is removed by your liver in the bile it produces. But when you have Wilson's Disease, you can't eliminate the extra copper, and eventually, the copper levels reach a life-threatening level.
Wilson's Disease causes copper to accumulate in mostly your brain and liver, but it can affect any organ.
The good news is that Wilson's Disease is very treatable when diagnosed early, and most people can live full and active lives.
Complications of Wilson's Disease
If Wilson's Disease remains untreated, it is ultimately fatal. You can also see severe complications such as:
- Scarring of the liver
- Liver cirrhosis
- Liver failure
- Neurological problems despite treatment
- Kidney stones
- Kidney failure
People with untreated Wilson's Disease can also have blood problems such as anemia. Psychological issues like depression, personality changes, and irritability are also common.
Causes of Wilson's Disease
Wilson's Disease is a rare and inherited genetic disorder that is usually diagnosed between the ages of 5 and 35. Wilson's Disease is an autosomal recessive trait, meaning you must inherit one copy of this gene from each of your parents.
If you only receive one abnormal gene from your parent, you won't become sick with Wilson's Disease, but you'll carry the gene and be at risk of passing it on to your children.
Risk Factors for Wilson's Disease
If you have parents or siblings with Wilson's Disease, then you're more likely to have it too. If you have Wilson's Disease in your family, it's a good idea to ask your doctor about genetic testing.
Early awareness and diagnosis of Wilson's Disease dramatically increase your chances of treatment being a success.
Signs and Symptoms of Wilson's Disease
Symptoms and signs of Wilson's Disease tend to vary a lot, depending on the affected organs. Unfortunately, the symptoms of Wilson's Disease mimic many other conditions making it difficult to detect signs alone.
Wilson's Disease presents at birth, but there won't be any symptoms until the copper begins to build up in your organs. Symptoms include:
- Weight loss
- Loss of appetite
- Abdominal pain and bloating
- Muscle cramps
If you have copper accumulation in your brain, you'll notice symptoms like
- Difficulties with your memory
- Difficulties with speech or vision
- Clumsiness when using your hands
Once Wilson's Disease advances more, it causes seizures and muscle spasms, and pain with movement.
If your doctor suspects you have Wilson's Disease, they will also check your eyes for Kayser-Fleisher rings and a sunflower cataract.
These rings are golden brown and caused by deposits of copper. Kayser-Fleisher rings show up in over 95% of people with Wilson's Disease.
Eventually, Wilson's Disease also buildups in other organs, causing more symptoms such as:
- Kidney stones
- Bluish color to your nails
- Early osteoporosis
- Low blood pressure
- Problems with menstrual cycles
Wilson's Disease Diagnosis
Initially, Wilson's Disease is tricky for doctors to diagnose as the symptoms mimic many other disease conditions like hepatitis C, heavy metal poisoning, or other neurological disorders.
If your doctor is concerned you may have Wilson's Disease, they'll first ask you about your medical history and if your family has a history of Wilson's Disease. Next, they will carefully evaluate your symptoms and look for:
- Skin changes
- Enlargement of liver
- Swollen or tender abdomen
- Swollen ankles
- Yellow color to your eyes
Then, your doctor will order blood tests, urine tests, and scans to confirm the presence of Wilson's Disease.
Lab Tests for Wilson's Disease
Luckily, you can get Wilson's Disease tests done quickly with Ulta Lab Tests. Ulta Lab Tests offers the blood tests you need to get moving on your diagnosis, treatment, and the rest of your life.
Standard laboratory tests to diagnose and monitor Wilson's Disease include:
Ceruloplasmin is a protein that binds to about 95% of the copper in your blood. Ceruloplasmin levels are usually low with Wilson's Disease. But it's also important to note that people with nervous system symptoms of Wilson's Disease will often have a normal ceruloplasmin level.
Your doctor will also check your blood copper level. People with Wilson's Disease often have high copper levels. Blood copper levels are simple and accurate diagnostic tools for Wilson's Disease.
Liver enzymes are next on the list. The liver enzymes alanine transaminase (ALT) and aspartate transaminase (AST) are often tested to determine if you have any liver damage. Abnormal ALT and AST levels can point towards Wilson's Disease.
Depending on your symptoms, your doctor may want to order a complete liver health profile that can identify Wilson's Disease along with other conditions. Ulta Lab Tests offers comprehensive liver profiles that you can choose from.
You'll also have your red blood cell levels checked to look for any signs of anemia. Your doctor may also order a complete metabolic panel to check your blood sugar levels and how your kidneys are functioning.
Some doctors might also order genetic sequencing to examine the gene for variants and link it to your family members.
Finally, you'll have to do a 24-hour urine copper test. For this test, you'll collect your urine in a container for 24 hours. 24-hour urine copper levels tend to be high in people with Wilson's Disease.
Other Diagnostic Tests
In addition to blood tests, your doctor may order specific imaging tests to evaluate your organs.
An MRI is ordered to check your brain when you have neurological symptoms from Wilson's Disease. Your doctor may also order CT scans to assess the condition of your liver and kidneys.
Liver biopsies are another standard diagnostic test for Wilson's Disease. A liver biopsy will reveal liver damage as well as high levels of copper.
Treatment for Wilson's Disease
The success of Wilson's Disease treatment depends on how far it's progressed once it's finally detected. Treatment usually happens in stages and lasts a lifetime. If you stop taking your medications, copper levels will build back up again.
The first stage of Wilson's Disease treatment involves Chelation therapy. Chelation therapy uses specific medications to prevent heavy metals like copper, lead, mercury, or arsenic from building up in your body and becoming toxic.
The second stage of Wilson's Disease treatment is maintaining normal copper levels once the first stage is complete. You'll usually have to take zinc with your meals. Zinc helps prevent your body from absorbing copper from the foods you eat.
The third stage of treatment begins once your symptoms begin to improve and your copper levels start to stay normal. The third stage lasts the rest of your life and involves taking zinc, avoiding foods and water with high copper levels, and regularly monitoring your copper levels.
Frequently Asked Questions About Wilson's Disease
Chances are, many other people are asking the same questions you may have. Let's get your research started by taking a few FAQS about Wilson's Disease.
How Wilson's Disease got its name? From the man who discovered it, Alexander Kinnear Wilson, who originally described the disease in the early 1900s.
Can people get Wilson's Disease later in life? There are rare cases of people in their 60s diagnosed with late-onset Wilson's Disease.
Which gene causes Wilson's Disease? The gene that causes Wilson's Disease is called the ATP7B gene, and tests are available to detect any mutations to this gene.
Will a copper test tell me I have Wilson's Disease? A serum copper test is a cheap and easy diagnostic tool. But remember, if your doctor tells you that you have high copper levels in your blood, it doesn't automatically mean you have Wilson's Disease.
You'll need further lab tests to confirm as elevated copper levels can occur from pregnancy and certain medications.
Get Tested for Wilson's Disease Test With Ulta Lab Tests
What are you waiting for? If you're showing signs of Wilson's Disease, you need to act fast. If left untreated, your liver and kidney will be damaged, and it will only get worse the more prolonged treatment is delayed.
Ulta Lab Tests offers highly accurate and reliable tests so that you can make informed decisions about your health. Here are a few great things to love about Ulta Lab Tests:
- You'll get secure and confidential results
- You don't need health insurance
- You don't need a physician's referral
- You'll get affordable pricing
- We offer a 100% satisfaction guarantee
Order your lab tests for Wilson's Disease today, get blood drawn nearby, and your results will be provided to you securely and confidentially online in 24 to 48 hours for most tests.
Take control with Ulta Lab Tests today!