Familial cirrhosis
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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| Familial cirrhosis | |
|---|---|
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Fatigue, jaundice, abdominal swelling, easy bruising |
| Complications | Liver failure, portal hypertension, hepatic encephalopathy, hepatocellular carcinoma |
| Onset | Varies, often in adulthood |
| Duration | Long-term |
| Types | N/A |
| Causes | Genetic predisposition, alcohol use disorder, hepatitis |
| Risks | Family history, alcohol consumption, viral hepatitis |
| Diagnosis | Liver biopsy, blood tests, imaging studies |
| Differential diagnosis | Non-alcoholic fatty liver disease, autoimmune hepatitis, primary biliary cholangitis |
| Prevention | N/A |
| Treatment | Lifestyle modification, medication, liver transplant |
| Medication | N/A |
| Prognosis | Variable, depends on stage at diagnosis and treatment |
| Frequency | Rare |
| Deaths | N/A |
Familial cirrhosis is a type of liver disease that is inherited, meaning it is passed down from parents to their children. It is characterized by the progressive scarring of the liver, which can lead to liver failure.
Causes
Familial cirrhosis is caused by a variety of genetic mutations that affect the liver's ability to function properly. These mutations can be inherited from one or both parents. Some of the genes that have been associated with familial cirrhosis include ATP7B, SERPINA1, and HFE.
Symptoms
The symptoms of familial cirrhosis can vary widely, depending on the severity of the disease and the specific genetic mutation involved. Common symptoms can include jaundice, fatigue, weight loss, and abdominal pain. In severe cases, complications such as liver failure or liver cancer can occur.
Diagnosis
Diagnosis of familial cirrhosis typically involves a combination of physical examination, medical history, and laboratory tests. Genetic testing may also be used to identify the specific mutation causing the disease.
Treatment
Treatment for familial cirrhosis is aimed at managing symptoms and slowing the progression of the disease. This can include medications, lifestyle changes, and in severe cases, liver transplantation.
See also
References
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Contributors: Prab R. Tumpati, MD