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September 28, 2022 Liver DiseaseUncategorized0

Genetic liver diseases are rapidly becoming a more prevalent cause of liver disease, showing us that more than just good looks can run in the family. Learn more about genetic liver diseases, the most common kinds, and why maintaining good liver health remains important.

About Genetic Liver Diseases 

Genetic liver diseases are a group of metabolic and genetic defects that are known to cause chronic liver disease. Unlike a liver condition such as NASH that’s typically caused by environmental and lifestyle factors, genetic liver conditions are hereditary and are likely to be found in close relatives or family members. The most common and critical genetic liver conditions are Alpha-1 Antitrypsin deficiency, hereditary hemochromatosis (HHC), and Wilson’s disease. However, various inheritable liver conditions exist but are rarer, such as Alagille syndrome and Crigler-Najjar syndrome. These inherited liver conditions can lead to various health complications and over time can manifest into liver scarring, cirrhosis and in some cases, liver failure.

Alpha-1 Antitrypsin Deficiency 

Alpha-1 antitrypsin is a protein made by the liver that serves to protect the lungs. An alpha-1 antitrypsin (AAT) deficiency is a hereditary condition classified by the lack of a distinct enzyme. As a result, excess alpha-1 antitrypsin can accumulate in the liver. It’s not uncommon for adults afflicted by AAT deficiency to be asymptomatic until it advances into cirrhosis. Symptoms may be chronic or occur with acute respiratory infections and may include:

  • Chest pain that escalates when breathing in
  • Continuous exhaustion and low energy
  • Decreased ability to exercise
  • Excessive coughing with phlegm
  • Lack of appetite
  • Shortness of breath and wheezing

Initial symptoms of AAT deficiency typically occur between the ages of 20-50 but affect some as early as infancy. If the lung disease associated with the Alpha-1 antitrypsin is not severe, those who develop cirrhosis and liver failure might be eligible for a liver transplant.

Hereditary Hemochromatosis 

Hereditary hemochromatosis (HH) occurs when a surplus amount of iron gathers in the body. Excess iron in the body is toxic, and if left untreated, iron levels rise over time, and organ damage can cause cirrhosis and liver cancer. Hemochromatosis patients are revealed mainly through abnormal iron levels via bloodwork but can also be detected through genetic testing, and some may require a liver biopsy.

Cartoon image depicting healthy liver compared to a liver affected by hereditary hemochromatosis.

Symptoms include abdominal pain, bronze or grey clear skin, joint pain, lethargy, loss of sex drive, and weight loss. The leading cause of death for HH patients is liver-related complications. The earlier you can achieve a diagnosis, the increased likelihood of avoiding these complications.

Wilson’s Disease 

Approximately one in 30,000 people have Wilson’s disease. This genetic disorder doesn’t allow the body to discard extra copper, which causes a build-up in the liver and other organs. Like most things in life, moderation is essential, and the same can be applied to copper within our body. A person with a family history of Wilson’s disease is highly susceptible to also having it, with symptoms manifesting between the ages of 5-40. However, some diagnoses have been made as early as nine months and in adults seventy and up. It’s important to note that symptoms often remain undetected until it is too late but can be treated with appropriate medication if targeted appropriately.

Importance of Liver Health  

Liver health maintenance is vital especially for those who are living with genetic liver diseases or those who are genetically predisposed to developing one. Through a balanced diet, routine exercise, responsible alcohol use, and weight management, you can help maintain good overall health. In addition, regular liver scans and check-ups can help detect any issues sooner rather than later.

Benefits of a liver scan with arizona liver health - explore our studies today!

Click here to request your FREE and painless fibroscan appointment! Looking to explore other research options or to learn more about genetic liver diseases? Visit our website to browse enrolling studies or contact us to connect with our team of liver experts today!




Hepatic encephalopathy (HE) can develop when your liver can no longer remove toxic substances from your blood. The toxins build up and can travel through your body until they eventually reach your brain. This causes mental and physical symptoms of HE.

Why Does HE Develop?

Hepatic encephalopathy is a nervous system disorder brought on by severe liver disease. When the liver doesn’t work properly, toxins build up in the blood.  HE is a complication of cirrhosis– a severe form of liver disease. Common types of chronic liver disease can lead to liver scarring or even liver failure. These include:

  • Alcohol-related liver disease
  • Nonalcoholic fatty liver disease (NAFLD), or too much fat in liver cells
  • Inflammation of the liver (such as hepatitis A, B, or C)
  • Liver cancer

Living with untreated liver disease for a long time can lead to cirrhosis. Cirrhosis occurs when scar tissue replaces healthy liver tissue. As cirrhosis becomes worse, the liver has less healthy tissue. A healthy liver is essential in helping your body process food and nutrients into energy. It is also vital for removing harmful toxins. Over time, the liver becomes so damaged, it can no longer remove toxins from the blood. HE symptoms are broken down into four grades of severity:

  • Grade 1:
    • Lack of awareness
    • Euphoria or anxiety
    • Shortened attention span
    • Difficulty with addition or subtraction
    • Altered sleep patterns
  • Grade 2:
    • Lack of energy or interest
    • Confused sense of date and time
    • Obvious personality change
    • Inappropriate behavior
    • Uncoordinated movements
    • Tremor or flapping of the wrists
  • Grade 3:
    • Sleepiness or stupor
    • Responds to stimuli
    • Confused sense of place, where one is
    • Extreme disorientation
  • Grade 4:
    • Complete unresponsiveness (hepatic coma)


Treatments can rid the body of toxins and reverse this temporary condition. These are aimed at lowering the level of ammonia and other toxins in your blood. These toxins initially arise in your gastrointestinal or GI system. Hence, therapies are focused on your gut to eliminate or reduce the production of toxins.

Arizona Liver Health conducts free fibroscans that can detect liver diseases, such as NAFLD and NASH. A fibroscan done early enough can help you avoid complications from untreated liver disease such as HE. Once results are ready, our medical staff will help you determine if additional steps are needed. If your results indicate abnormal liver function, our team will discuss enrolling studies for the liver that may be an option. Schedule your FREE fibroscan today! Request an appointment here or call us at (480) 470-4000.


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