Wilson’s disease is a rare genetic disorder characterized by excessive accumulation of copper in the body’s tissues, particularly the liver and brain.
Etiology
Wilson’s disease is caused by mutations in the ATP7B gene, which is responsible for copper transport within hepatocytes. The autosomal recessive inheritance pattern of this disease leads to impaired function of the ATP7B protein, resulting in decreased excretion of copper from the liver and its subsequent buildup in various organs.
Clinical Presentation
Patients with Wilson’s disease may present with a wide range of symptoms, including:
– Hepatic: Liver disease ranging from asymptomatic elevations in liver enzymes to cirrhosis or acute liver failure.
– Neurological: Movement disorders, tremors, and cognitive or psychiatric disturbances.
– Ophthalmic: Kayser-Fleischer rings, which are copper deposits in the cornea, visible upon slit-lamp examination.
Diagnosis
Diagnosis is based on a combination of clinical presentation, laboratory tests, and genetic analysis. Key diagnostic tests include:
– Serum ceruloplasmin and copper levels
– 24-hour urinary copper excretion
– Ocular slit-lamp examination for Kayser-Fleischer rings
– Liver biopsy for copper quantification
– Genetic testing for mutations in the ATP7B gene.
Treatment
The mainstay of treatment involves chelation therapy to remove excess copper, typically using medications like D-penicillamine oder trientine. Oral zinc therapy is also used to block copper absorption from the gastrointestinal tract. In severe cases, liver transplantation may be necessary.
Prognosis
With early diagnosis and proper treatment, individuals with Wilson’s disease can manage their condition effectively and lead normal lives. However, untreated Wilson’s disease can be fatal due to liver failure or neurological complications.
References:
(1) Wilson disease: Clinical manifestations, diagnosis, and … – UpToDate. https://www.uptodate.com/contents/wilson-disease-clinical-manifestations-diagnosis-and-natural-history.
(2) Wilson Disease – Gastrointestinal – Medbullets Step 2/3. https://step2.medbullets.com/gastrointestinal/120114/wilson-disease.
(3) Wilson’s disease – Symptoms, diagnosis and treatment – BMJ Best Practice. https://bestpractice.bmj.com/crawler/topics/en-gb/427.
(4) Wilson’s Disease Treatment | Symptoms and Diagnosis – UChicago Medicine. https://www.uchicagomedicine.org/conditions-services/liver-diseases-hepatology/wilsons-disease.
(5) Wilson Disease | UCSF Department of Surgery. https://surgery.ucsf.edu/condition/wilson-disease.
(6) en.wikipedia.org. https://en.wikipedia.org/wiki/Wilson%27s_disease.
Verifiziert von Dr. Petya Stefanova
