About Alpha-1 Liver Disease

Alpha-1 Antitrypsin Deficiency (AATD) is a genetic condition that can affect the liver and/or the lungs.^Footnote1 In some people, AATD leads to liver disease, also known as Alpha-1 Liver Disease.

Alpha-1 Liver Disease occurs when an abnormal protein builds up in the liver and damages liver cells over time.^Footnote2 Not everyone with AATD develops liver disease, but for some, this damage can lead to serious liver complications.

There is currently no approved treatment for Alpha-1 Liver Disease, and research studies are ongoing to better understand the condition.

How Does Alpha-1 Liver Disease Progress?

Cause

Alpha-1 Liver Disease is unique in that it is genetic, meaning it is something people are born with and is passed down through the family.

Progression

Alpha-1 Liver Disease often progresses more slowly than other liver diseases. Some individuals may experience minimal liver problems, while others may develop severe disease.^Footnote3

Treatment

While other liver diseases may have specific treatments aimed at their underlying cause, current Alpha-1 Liver Disease treatments mainly focus on managing symptoms.^Footnote4

Signs and Symptoms

While many patients with Alpha-1 Liver Disease have no symptoms, the disease can cause symptoms such as:^Footnote4

Jaundice, or yellowing of the skin or eyes

Vomiting blood or having blood in stool

Feeling tired (fatigue)

Itching and rashes

Poor appetite

Pain or swelling of the stomach or legs

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How Is Alpha-1 Liver Disease Diagnosed?

This diagnosis is typically made by a hepatologist, which is a doctor that specializes in the liver and treats liver disease. Individuals may be referred to a hepatologist by their primary care provider if liver problems are suspected.

Diagnosing Alpha-1 Liver Disease may involve multiple tests such as:^Footnote4

Reviewing family history
Blood tests
Body imaging
Liver biopsy, if needed

Current Management and Treatment Options

While there is currently no approved treatment for Alpha-1 Liver Disease, the focus is on managing symptoms, slowing progression, and preventing complications. This may involve:

Lifestyle changes, such as avoiding alcohol and maintaining a healthy diet^Footnote4
Medications to address symptoms like jaundice, swelling, and fatigue^Footnote4
Monitoring with regular checkups, blood tests, and imaging procedures^Footnote3
Liver transplant (for severe cases)^Footnote3
Clinical research studies

References

mayoclinic.org/diseases-conditions/liver-problems/symptoms-causes/syc-20374502↵
learn.genetics.utah.edu/content/genetics/alpha1↵
liverfoundation.org/liver-diseases/pediatric-liver-information-center↵
alpha1.org/newly-diagnosed/learning-about-alpha-1/liver-disease↵

Patient Resources

Explore these resources to learn more about The Redwood Study. These materials can help you, your family, and your doctor understand the study and decide whether participation may be right for you.