The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

+90 850 321 50 00

Wilson Disease — Hepatic Involvement (Detailed)

ATP7B gene defect causes copper accumulation, leading to chronic hepatitis, cirrhosis and acute liver failure.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Wilson Disease — Hepatic Involvement (Detailed)?

Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene encoding a hepatocyte copper transporting ATPase.

Defective biliary copper excretion leads to copper accumulation in the liver, brain, kidney and cornea.

Hepatic manifestations range from asymptomatic transaminitis through chronic hepatitis and cirrhosis to fulminant hepatic failure with Coombs-negative haemolysis.

Symptoms

Asymptomatic transaminase elevation
Chronic hepatitis with fatigue and right upper quadrant discomfort
Compensated and decompensated cirrhosis
Acute liver failure with Coombs-negative haemolytic anaemia
Kayser-Fleischer rings on slit-lamp examination
Neurological tremor, dystonia or psychiatric symptoms (parallel involvement)

Risk Factors

Biallelic ATP7B mutations (His1069Gln most common in Europeans)
Consanguineous marriage and family history
Age between 5 and 35 years (peak presentation)
Sibling with confirmed Wilson disease (screening indicated)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Unexplained transaminase elevation in young adults
  • New-onset cirrhosis without typical risk factors
  • Acute liver failure with haemolysis (low alkaline phosphatase to bilirubin ratio)
  • Neuropsychiatric symptoms with hepatic dysfunction

Treatment Methods

01
Diagnosis based on serum ceruloplasmin, 24-hour urinary copper, slit-lamp examination and ATP7B sequencing
02
Liver biopsy with hepatic copper quantification (greater than 250 micrograms/g dry weight)
03
D-penicillamine or trientine as primary chelation
04
Zinc therapy for maintenance and presymptomatic patients
05
Low-copper diet (avoid liver, shellfish, nuts, chocolate)
06
Liver transplantation for fulminant failure or decompensated cirrhosis unresponsive to chelation

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Dahiliye (İç Hastalıkları) Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book AppointmentContact Us

Related Health Topics

Other articles from the same department you may want to explore.

Anaemia

Dahiliye (İç Hastalıkları)

Anaemia is a low haemoglobin level that reduces oxygen delivery, causing fatigue, pallor, and shortness of breath. It is not a disease itself but a sign of many underlying conditions. Most cases are correctable with appropriate diagnosis and treatment.

Iron Deficiency Anaemia

Dahiliye (İç Hastalıkları)

Iron deficiency anaemia develops when dietary intake, absorption, or losses create an iron shortfall, most often affecting women and children. Identifying the underlying cause is the core of management, alongside iron replacement.

Vitamin B12 Deficiency

Dahiliye (İç Hastalıkları)

Vitamin B12 deficiency can cause megaloblastic anaemia, neurological symptoms, and cognitive impairment. Early treatment with intramuscular or oral B12 largely prevents irreversible complications.

Hypertension (High Blood Pressure) Management

Dahiliye (İç Hastalıkları)

Hypertension is often called the silent killer because it progresses symptom-free for years and can damage the heart, brain, kidneys, and eyes. Regular monitoring, lifestyle change, and evidence-based drug therapy dramatically reduce cardiovascular risk.

Chronic Kidney Disease

Dahiliye (İç Hastalıkları)

Chronic kidney disease is one of the most common complications of chronic conditions such as diabetes and hypertension, and can be silent in its early stages.

Hepatitis B (HBV)

Dahiliye (İç Hastalıkları)

Hepatitis B is a DNA virus infection causing acute and chronic hepatitis with risk of cirrhosis and hepatocellular carcinoma; diagnosis integrates HBsAg, HBeAg, anti-HBc, and HBV DNA with management based on disease phase using nucleos(t)ide analogues (entecavir, tenofovir) and universal infant vaccination.

Hepatitis C (HCV)

Dahiliye (İç Hastalıkları)

Hepatitis C is an RNA virus causing chronic hepatitis that may progress to cirrhosis and hepatocellular carcinoma; modern direct-acting antiviral (DAA) pangenotypic regimens (sofosbuvir/velpatasvir, glecaprevir/pibrentasvir) achieve sustained virologic response over 95% in 8–12 weeks with universal adult screening and cure for nearly all patients.

Fatty Liver Disease

Dahiliye (İç Hastalıkları)

Non-alcoholic fatty liver disease (NAFLD) is closely related to obesity and metabolic syndrome and is largely reversible with early treatment.

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.