Genetic Liver Diseases
Genetic liver diseases are disorders caused by a mutation (change) in a the DNA that disrupts normal liver function. The most common are: hereditary hemochromatosis, Wilson's disease and alpha-1 antitrypsin deficiency. Our hepatologists also treat polycystic liver disease, a rare genetic liver disease.
Hemochromatosis
While there are a few types of hemochromatosis, the most common type is genetic. Most people who have these genes do not develop serious health issues. If symptoms do begin, they usually start to appear in midlife.
Symptoms, if they appear, can often be mistaken for common ailments.
- Joint pain
- Belly pain
- Fatigue
- Weakness
- Diabetes
- Impotence
- Lowered libido
- Heart failure
- Liver failure
- Changes in skin color (bronze or gray)
Treatment focuses on lowering iron in the blood. This is done by regularly removing blood from the body via phlebotomy.
Wilson's Disease
This genetic condition causes copper levels to build in several places - the liver, brain and eyes. This condition could be life-threatening if left untreated. When diagnosed early, Wilson's disease is considered very treatable. Diagnosis is typically established before age 35.
Symptoms take time to develop and vary depending on which part of the body the disease is affecting.
- Loss of appetite
- Fatigue
- Jaundice
- Kayser-Fleischer rings around irises
- Swelling in the legs
- Abdominal swelling
- Trouble with speech & swallowing
- Mood changes
- Coordination, uncontrolled movement or muscle stiffness
Treatment typically follows a two-step approach using medicines that reduce the copper buildup, allowing your kidneys to filter it out, then different medication to prevent the copper from building up. When the liver is severely damaged, a transplant may become necessary.
alpha-1 antitrypsin deficiency
Alpha-1-antitrypsin deficiency (AATD) can cause damage to the lungs, liver, skin and blood vessels. This happens because AATD causes the liver to not make enough of a certain protein or produce misshapen a protein. Symptoms are varied based on which part of the body the disease is affecting.
Diagnosing this condition is done through a blood test that can measure your AAT protein level. While there is no cure for AATD, treatment with medication can help manage symptoms and lower the risk of complications.
Polycystic liver disease
Polycystic liver disease (PLD) is another example of a genetic liver disease, though it is rare. This condition causes numerous, fluid-filled cysts (sacs) to form throughout your liver.
When this happens, the liver takes on the appearance of a cluster of grapes instead of its usual smooth and uniform surface.
Most people with PLD don't experience symptoms, but in the case that the cysts become numerous enough or large enough, people can experience abdominal symptoms. These include
- Pain
- Swelling
- Early feelings of fullness
- Shortness of breath
Early diagnosis and treatment are key to preventing complications and managing this condition.