Alpha-1 and Liver Disease: Symptoms, Treatment, and Outlook

Alpha-1 antitrypsin deficiency (AATD) is an inherited genetic disorder. It can occur in anyone, but it is more common in people with ancestry in northern and central Europe.

People with AATD experience impaired production of a protein called alpha-1 antitrypsin (AAT). The function of AAT is to protect your body from an enzyme called elastase. Neutrophils, a type of white blood cells that fight infection, make elastase.

AATD can lead to various health complications. These include lung damage, liver disease, and a painful skin condition called panniculitis.

Below, we will discuss the various aspects of liver disease due to AATD, including its causes, symptoms, diagnosis, and treatment. Keep reading to learn more.

AATD occurs when you inherit two copies of an atypical version of the SERPINA1 embarrassed. You receive a copy from each parent. SERPINA1 is the gene that codes for the AAT protein.

Although there are many variations of SERPINA1the most common are:

  • M: M leads to regular production of AAT. Most people in the general population have two copies of Mr.
  • S: S causes moderately lower production of AAT.
  • Z: Z results in very low AAT production. People with two copies of Z are at a higher risk of having liver disease or lung damage from AATD.

Your genes usually make AAT in your liver. Your liver then releases it into the bloodstream, where it can protect you from the potentially harmful effects of elastase.

However, in AATD, the abnormal AAT proteins get stuck in the liver instead of entering the bloodstream. Accumulation of these abnormal proteins in the liver can lead to liver damage and scarring.

Symptoms of AATD liver disease are consistent with liver disease from other causes, such as:

AATD liver disease can appear at any time in a person’s life. In addition, the way it presents itself can also be very variable.

For example, in children, AATD may cause no liver-related signs or symptoms. Others might have elevated liver enzymes. It is also possible that some children with AATD have cholestasis or even cirrhosis or liver failure.

In adults who were not diagnosed with AATD in childhood, liver disease can often go undetected for many years until they show symptoms of cirrhosis or liver cancer.

Overall, AATD is an underdiagnosed and underreported condition. According to a 2020 research review, approximately 80% to 90% of people with AATD do not know they have it due to factors such as a lack of symptoms or misdiagnosis.

Doctors often suspect AATD in situations where a person has:

  • a close relative with AATD or a known family history of AATD
  • liver disease or emphysema that runs in their family
  • liver problems that cannot be explained by other health conditions
  • emphysema at a younger age or without a history of smoking
  • panniculitis

The diagnostic process begins with a physical examination performed by a doctor and taking your medical history. They may ask you about your symptoms, when they started, and if anyone in your family has been diagnosed with AATD.

Doctors use the following tests to diagnose AATD, especially AATD liver disease:

  • Blood tests: A blood test can help determine the levels of AAT in your blood and if they are low. Your doctor may also perform liver function tests to check how well your liver is working.
  • Isoelectric focusing: Isoelectric focusing examines how AAT proteins migrate through a special gel. Because we know that the different versions of SERPINA1 can make slightly different proteins, doctors can use this technique to see what kinds of proteins your body is making.
  • Genetic tests: Genetic testing is done on a blood sample to look for atypical versions of the SERPINA1 embarrassed.
  • Biopsy: A liver biopsy is not necessary to diagnose AATD liver disease. But doctors can use it in difficult diagnostic situations or to help estimate your outlook.

There is currently no specific treatment available for AATD liver disease. But clinical tests are in progress for treatments that can correct the abnormal protein so it can safely enter your bloodstream rather than building up in your liver.

Until these treatments are approved, supportive measures primarily manage AATD liver disease. These measures do not directly address your condition. Instead, they focus on relieving symptoms and improving your quality of life.

In addition, your doctor will suggest that you make lifestyle changes that promote liver health. These may include:

If you have AATD liver disease, your doctor will also want to periodically monitor your condition in case it progresses. They will probably want to check with you at least once a year. Any monitoring may involve:

  • an up-to-date medical history
  • a physical examination
  • blood tests, such as:
  • liver ultrasound

According to a research report 2021many children and adults with AATD liver disease remain stable and live generally unaffected lives for many years.

For example, a study 2019 involved 1,595 adults with severe AATD. (This means they have two copies of the Z variant of the SERPINA1 gene.) Over an average follow-up period of 12 years, the researchers found that:

  • 10% developed liver disease of any kind
  • 7% developed cirrhosis
  • 2% developed liver cancer

The average age of onset of liver disease among study participants was 61 years. Some risk factors associated with the development of AATD liver disease in adulthood included:

However, it is still important to note that the progression of AATD and AATD liver disease can still be unpredictable. AATD liver disease is associated with various complications, including:

  • cirrhosis, which is generalized scarring of the liver
  • portal hypertension, which is high blood pressure in the portal vein of the liver
  • bleeding problems due to impaired blood clotting
  • liver cancer
  • Hepatic insufficiency

Overall, liver transplantation is the only cure for AATD liver disease. But doctors usually only recommend it for people with very severe or end-stage liver disease.

Since AATD is an inherited genetic condition, you cannot prevent it.

But if you’ve been diagnosed with AATD, be sure to see your doctor for regular checkups that include assessments of your liver function. This can help identify any signs of liver disease early.

You can also follow certain lifestyle strategies that protect your liver health, such as:

  • abstain from alcohol
  • have a nutritious and balanced diet
  • keep up to date with hepatitis vaccinations

If AATD runs in your family, you may also consider genetic testing to find out if you carry a copy of the Z variation of SERPINA1. This can help you determine the chances of future children having the disease.

AATD is an inherited genetic disease. People with AATD can suffer from liver disease, lung damage, and skin problems.

How AATD affects the liver differs from person to person. Many people will be relatively unaffected. Others will develop liver disease which may eventually progress to cirrhosis or liver failure.

There is currently no specific treatment for AATD liver disease. Instead, management focuses on supportive care and lifestyle strategies.

If you have AATD or AATD liver disease, be sure to see your doctor for regular checkups. This allows for better monitoring of your condition and early detection of any signs of progression.

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