Hepatic form of Wilson disease, also known as hepatic Wilson disease or Wilson disease with predominantly hepatic presentation, is a rare genetic disorder characterized by the abnormal accumulation of copper in various tissues of the body, predominantly the liver. This condition is caused by a mutation in the ATP7B gene, which is responsible for the regulation and transportation of copper within the body.
The hepatic form of Wilson disease primarily affects the liver, leading to impaired copper transport and subsequent copper buildup within the liver cells. This can cause hepatocellular damage, resulting in liver inflammation, fibrosis, and eventually, liver failure if left untreated. Symptoms of this form of Wilson disease often emerge during childhood or adolescence, including fatigue, abdominal pain, jaundice, and hepatomegaly (enlargement of the liver).
Diagnosis of hepatic Wilson disease typically involves a combination of clinical evaluation, liver function tests, imaging studies (such as ultrasound or MRI), and genetic testing to confirm the presence of ATP7B gene mutations. Treatment options primarily involve copper chelating agents, such as d-penicillamine or trientine, which help to enhance the excretion of excess copper from the body. Zinc therapy may also be used as a preventive measure to limit copper uptake in the intestine.
It is crucial to diagnose and treat hepatic Wilson disease promptly to prevent liver damage and associated complications. Regular monitoring, including blood and urine tests, is necessary to assess liver function and copper levels. In some cases, liver transplantation may be required for individuals with advanced liver disease or severe dysfunction. With early diagnosis and appropriate management, individuals with the hepatic form of Wilson disease can lead relatively normal lives.
