Genetic Liver Disease: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Genetic Liver Disease?
A hepatologist (a liver doctor) or a gastroenterologist (a digestive system doctor) usually treats genetic liver disease. In an emergency, call 911. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is genetic liver disease?
Genetic liver diseases are liver diseases that are inherited, which means they are passed down in families. Two examples are hemochromatosis and Wilson disease.
Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Some liver diseases are caused by viruses, such as hepatitis A, B, and C. Others are caused by drugs, poisons, or too much alcohol. Liver cancer is another kind.
Symptoms
Symptoms of liver disease can vary. They often include:
- Swelling of the abdomen and legs.
- Bruising easily.
- Changes in the color of your stool and urine.
- Jaundice, which is yellowing of the skin and eyes.
Sometimes there are no symptoms.
Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea, the clear front layer of the eye.
Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain.
Causes and who gets it
Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver. Too much copper is poisonous. This can cause damage to your brain, kidneys, and eyes.
In hemochromatosis, too much iron builds up in your body. It stores the extra iron in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs.
There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia (low red blood cells), thalassemia, liver disease, or blood transfusions.
How doctors diagnose it
Tests such as imaging tests and liver function tests can check for liver damage and help to diagnose liver diseases.
For Wilson disease, a physical exam and laboratory tests can diagnose it.
For hemochromatosis, your doctor will use your medical and family histories, a physical exam, and the results from tests and procedures.
Treatment
Treatment for Wilson disease is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life, so follow your doctor's instructions.
- Do not eat shellfish or liver, as these foods may contain high levels of copper.
- At the beginning of treatment, also avoid chocolate, mushrooms, and nuts.
- Have your drinking water checked for copper and do not take multivitamins that contain copper.
With early detection and proper treatment, you can enjoy good health.
For hemochromatosis, treatments include removing blood (and iron) from your body, medicines, and changes in your diet. Without treatment, it can cause your organs to fail.
When to see a doctor
Talk with a doctor if you have symptoms of liver disease, such as jaundice or swelling of the abdomen and legs. Tell your doctor about your family history, which helps doctors diagnose hemochromatosis.
Call 911 or go to the emergency room if you vomit blood, faint, are very confused, or have severe belly pain.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can review your symptoms and your family history. They can also help you follow up with a liver or digestive specialist.
Common questions
Can liver disease run in families?
Yes, some liver diseases are inherited. Primary hemochromatosis and Wilson disease are examples.
Does genetic liver disease always cause symptoms?
Not always. Sometimes there are no symptoms. Not everyone with hemochromatosis has symptoms.
Can Wilson disease be treated?
Yes. Treatment is with drugs to remove the extra copper from your body. With early detection and proper treatment, you can enjoy good health.
Can hemochromatosis damage the body?
Yes, the extra iron can damage your organs. Without treatment, it can cause your organs to fail.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
