Alpha-1 Liver Disease

Causes of Alpha-1 liver disease

The causes of liver disease in Alpha-1 are less understood than the causes of lung disease in this condition. Most Alpha-1 liver research suggests that the abnormal Alpha-1 Antitrypsin protein cannot move from the liver cells (where it is made) out into the bloodstream because the protein does not fold normally.

The buildup of abnormal Alpha-1 protein inside the liver cells can cause stress and irritation in the liver, which may eventually lead to scarring (or fibrosis) in the liver. Scarring of the liver is a sign of more important liver disease. Severe scarring is called “cirrhosis” and often leads to liver failure. Only very few people with A1AD develop severe liver disease with cirrhosis and liver failure, and scientists believe that this may be because of the presence of other genetic and/or environmental factors. Further research is needed to clarify what these genetic and environmental factors are and how they work to change the risk of liver disease.

Symptoms of Alpha-1 liver disease in adults

In its early stages, Alpha-1 liver disease may not be symptomatic. Eventually the liver disease may become severe enough to cause some or all of the following symptoms. Therefore it is important that your doctor checks the liver blood tests.

Early, mild liver disease:

  • No symptoms (usually)
  • Fatigue
  • Loss of appetite
  • Nausea, vomiting
  • Weight loss
  • Enlarged liver noticed by your doctor when examining your abdomen

As liver disease progresses to become more severe:

  • Itching
  • Jaundice (yellow skin and/or yellowing of the whites of the eyes)

Rarely, severe liver disease and liver failure may cause:

    • Fluid retention, with swollen ankles (edema) or a buildup of fluid in the abdomen (ascites)
    • Poor blood clotting (easy bruising, frequent nose bleeds)
    • Intestinal bleeding (vomiting of blood or black or red stools)
    • Greater risk of infections
    • Sleep disturbance
    • Confusion or depression
    • Breathlessness or fast breathing

Symptoms of Alpha-1 liver disease in children

As with adults, early mild Alpha-1 liver disease in children will cause no symptoms and the liver therefore needs to be checked by blood tests. A common reason for Alpha-1 to be diagnosed in childhood is the presence of prolonged jaundice in a newborn baby. This jaundice will commonly resolve in infants with A1AD who may then continue through childhood with no symptoms and evidence of only mild liver disease on blood tests or ultrasound. It is rare for Alpha-1 liver disease in childhood to become more severe and to lead to cirrhosis, liver failure and the need for liver transplantation.

Some or all of the following symptoms may be present. All symptoms should be reported to the child’s doctor.

Early, mild liver disease:

  • No symptoms (usually)
  • Jaundice at birth (yellow skin and/or yellowing of the whites of the eyes)
  • Pale, almost white stools
  • Loss of appetite, poor feeding, problems nursing
  • Nausea, vomiting
  • Lack of energy
  • Slow to gain weight
  • An enlarged liver when examined by a doctor
  • Elevated liver enzymes

Rarely, if liver disease progresses to become more severe:

  • Itching
  • Intestinal bleeding (vomiting of blood, black or red stools)
  • Poor blood clotting causing easy bruising or recurrent nose bleeds
  • Fluid retention causing rapid weight gain in an infant, abdominal distension due to fluid (ascites)
  • Sleep disturbance
  • Irritability, confusion
  • Enlarged spleen when examined by a doctor

Diagnosis of Alpha-1 liver disease

Alpha-1 liver disease is usually detected by simple blood tests. If more advanced liver problems appear, your doctor may recommend tests such as an ultrasound, an abdominal CT scan, or a liver biopsy.

A liver biopsy can evaluate the severity of the liver injury and can help evaluate whether other liver conditions are contributing to your liver problems. Liver biopsy carries with it an extremely small but serious risk of side effects such as bleeding and so is reserved for patients with ongoing liver problems. When a liver biopsy from an individual with Alpha-1 is examined under a microscope the liver cells appear filled with granules, which are actually abnormal Alpha-1 Antitrypsin protein that can’t be cleared from the liver. These granules are present even in individuals who don’t have Alpha-1 related liver disease.


DISCLAIMER:This website is designed to support, not replace, the relationship that exists between you and your physician. It is not the intention of this website to provide specific medical advice but rather to provide the Canadian Alpha-1 Community with information to better understand their health and their diagnosed disorder. Specific medical advice will not be provided and Alpha-1 Canada urges you to consult with a qualified physician for diagnosis and for answers to your personal questions.
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