Wilson’s Disease – Symptoms and Causes
Overview
Wilson’s disease is a rare genetic disorder where copper accumulates in the body. This usually happens in the liver, brain, and eyes. Most diagnoses occur between ages 5 and 35, though it can affect people of all ages.
Copper is essential for healthy body functions, helping to form nerves, bones, collagen, and melanin. Normally, people consume copper through food, and the liver produces bile to remove excess copper from the body.
For those with Wilson’s disease, this removal process malfunctions, leading to harmful copper buildup. Without treatment, this condition can become life-threatening.
The good news is that when caught early, Wilson’s disease responds well to treatment. Many patients go on to live normal, healthy lives with proper management.
Key facts about Wilson’s disease:
- Type: Inherited genetic disorder
- Primary Issue: Copper accumulation in organs
- Main Affected Areas: Liver, brain, eyes
- Typical Diagnosis Age: 5-35 years
- Prognosis: Good when treated early
Signs of Illness
Wilson’s disease begins at birth, but you won’t notice symptoms until copper builds up in your body. Different organs can be affected, causing various problems.
You might experience:
- Feeling tired and not wanting to eat
- Yellow skin and eyes (jaundice)
- Brown or copper-colored rings around your eye irises
- Swelling in your legs or abdomen
- Trouble with talking, swallowing, or coordination
- Changes in mood, depression, or personality shifts
- Sleep difficulties
- Uncontrolled movements or stiff muscles
When to Contact a Healthcare Provider
If you notice any concerning symptoms, especially if someone in your family has Wilson’s disease, you should make an appointment with your doctor.
Causes
Wilson’s disease happens when a person gets changed genes from both parents. These genes control how the body handles copper.
If someone gets only one changed gene, they won’t develop the disease but become carriers. Carriers can pass the gene to their children even without having symptoms themselves.
When a child receives changed genes from both parents, they will develop the disease and need treatment.
Risk Factors
Family history plays a significant role in Wilson’s disease risk. If your parents or siblings have this condition, you may face a higher chance of developing it yourself.
Genetic testing can be valuable for those with family members affected by Wilson’s disease. Discussing testing options with your doctor is recommended if Wilson’s disease runs in your family.
Complications
Wilson’s disease can lead to life-threatening issues if left untreated. Patients may experience several serious health problems as the disease progresses.
Liver damage is a primary concern. The buildup of copper in liver tissue causes scarring (cirrhosis), which impairs liver function. As scar tissue replaces healthy liver cells, the organ struggles to perform its vital roles.
Liver failure can develop in two ways:
- Suddenly (acute liver failure)
- Gradually over many years
In severe cases, a liver transplant may become necessary to save the patient’s life.
The nervous system can suffer lasting damage. Even with treatment, some patients continue to experience:
- Tremors
- Involuntary movements
- Difficulty walking
- Speech problems
Kidney function may deteriorate due to copper accumulation. This can result in kidney stones and abnormal elimination of amino acids in urine.
Mental health deterioration is common. The disease can trigger:
- Personality changes
- Depression
- Irritability
- Bipolar disorder
- Psychosis
Blood disorders may develop, including the destruction of red blood cells (hemolysis). This process leads to anemia and jaundice, causing fatigue and yellowing of the skin.
Common complications at a glance:
| System Affected | Possible Complications |
|---|---|
| Liver | Cirrhosis, acute or chronic liver failure |
| Nervous System | Tremors, movement problems, speech difficulties |
| Kidneys | Kidney stones, amino acid abnormalities |
| Mental Health | Mood disorders, personality changes, psychosis |
| Blood | Hemolysis, anemia, jaundice |
Treatment helps manage these complications, but starting therapy early produces the best results. Regular monitoring by healthcare providers helps identify and address complications before they become severe.
