Болезнь Вильсона

Overview 

Wilson’s Disease is a rare genetic disorder in which excess copper accumulates in the body, particularly in the liver, brain, and other vital organs. Normally, copper is eliminated through bile, but in this condition, it builds up and causes damage.

Wilson’s disease can affect both children and adults. Early diagnosis and lifelong treatment are essential to prevent serious complications and organ damage.

Types of Wilson’s Disease

• Hepatic Wilson’s Disease: Primarily affects the liver
• Neurological Wilson’s Disease: Affects the brain and nervous system
• Mixed Type: Involves both liver and neurological symptoms

Symptoms of Wilson’s Disease

• Fatigue and weakness
• Jaundice (yellowing of skin and eyes)
• Abdominal pain
• Swelling in the legs or abdomen
• Tremors or difficulty in movement
• Speech problems
• Behavioral or psychiatric changes
• Kayser-Fleischer rings (copper deposits in eyes)

Causes of Wilson’s Disease

• Genetic mutation in the ATP7B gene
• Inherited in an autosomal recessive pattern
• Impaired copper metabolism and excretion
• Copper accumulation in tissues

Complications of Wilson’s Disease

• Liver failure or cirrhosis
• Neurological damage
• Psychiatric disorders
• Kidney problems
• Blood abnormalities
• Life-threatening complications if untreated

Risk Factors of Wilson’s Disease

• Family history of the disease
• Genetic inheritance from both parents
• Early onset in childhood or adolescence

Prevention of Wilson’s Disease

• Genetic counseling for families
• Early screening in at-risk individuals
• Lifelong monitoring and treatment