The primary copper disease in humans is Wilson disease, also known as hepatolenticular degeneration.
Understanding Wilson Disease
Wilson disease is a rare, inherited condition where the body struggles to eliminate copper, causing it to accumulate in various organs. This buildup can lead to significant health problems. Here’s a breakdown:
Key Features:
- Genetic Basis: Wilson disease is an autosomal recessive disorder. This means that an individual must inherit two copies of the defective gene (one from each parent) to develop the condition.
- Copper Accumulation: The core issue is the abnormal buildup of copper, primarily affecting the:
- Brain: Leading to neurological and psychiatric symptoms.
- Liver: Causing liver damage and dysfunction.
- Cornea: Resulting in characteristic Kayser-Fleischer rings.
Signs and Symptoms:
The manifestations of Wilson disease can vary widely from person to person. Here are some common signs and symptoms:
- Neurological:
- Weakness
- Tremors
- Difficulty with coordination
- Changes in personality
- Seizures
- Hepatic:
- Abdominal pain
- Jaundice (yellowing of the skin and eyes)
- Other:
- Kayser-Fleischer rings (brownish rings around the iris of the eye)
Prevalence:
- Wilson disease affects approximately 1 in 30,000 individuals, highlighting its rarity.
Diagnosis:
Diagnosis typically involves a combination of:
- Physical Examination: Looking for Kayser-Fleischer rings.
- Blood Tests: Measuring copper levels and liver function.
- Urine Tests: Assessing copper excretion.
- Genetic Testing: To confirm the presence of the defective gene.
- Liver Biopsy: In some cases, to assess liver damage.
Treatment:
- The goal of treatment is to reduce copper levels in the body and manage symptoms. Treatment options may include:
- Chelating agents: Medications that help bind copper, allowing it to be excreted through urine.
- Zinc: Helps reduce copper absorption in the gut.
- Dietary Modifications: Limiting copper intake through diet is sometimes recommended.
- Liver Transplant: May be necessary in severe cases of liver damage.
Table Summary
| Feature | Description |
|---|---|
| Name | Wilson disease (Hepatolenticular degeneration) |
| Type | Autosomal recessive genetic disorder |
| Cause | Abnormal copper accumulation |
| Affected Organs | Brain, liver, cornea |
| Symptoms | Weakness, abdominal pain, jaundice, personality change, seizures, tremors, difficulty with coordination, Kayser-Fleischer rings |
| Prevalence | 1 in 30,000 individuals |
| Treatment | Chelating agents, zinc, dietary changes, liver transplant (in severe cases) |
