Alpha-1 Liver Disease

Alpha-1 liver disease can affect infants, children, and adults. It can result in a mild bump in some liver enzymes that returns to normal in a few weeks or it can lead to liver failure and the need for a liver transplant. Just as a simple blood test can establish the diagnosis of Alpha-1, liver disease due to Alpha-1 is usually detected by a simple panel of blood tests. If more advanced liver problems appear, then your doctor may recommend such tests 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 potentially serious risk of side effects such as bleeding and so it's 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 to be 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.


How Does Alpha-1 Liver Disease Develop?
The causes of liver disease in Alpha-1 are less well understood than the causes of lung disease in this condition. Most Alpha-1 liver research suggests that Alpha-1 liver cell damage is caused by misfolded abnormal alpha-1 antitrypsin protein build up in each cell's endoplasmic reticulum, the part of the cell that manufactures proteins. This misfolded protein gets stuck in the endoplasmic reticulum and is unable to move along a pathway leading out of the liver cell and into the blood. Scientists believe that this blockage, combined with other genetic and environmental factors, leads to the liver injury of Alpha-1. Still unknown is why most people with Alpha-1 never develop significant liver disease!


Adult Liver Symptoms Summary
Liver-affected adults with Alpha-1 may experience some or all of the following symptoms. All symptoms should be reported to your doctor.

  • itching
  • jaundice (yellow skin and/or whites of eyes)
  • esophageal hemorrhaging (vomiting up blood)
  • ascites (water retention in abdomen)
  • edema (water retention in ankles/feet)
  • fatigue
  • weight loss
  • nausea, vomiting
  • abdominal pain
  • abnormal liver function tests
  • black stool, fresh blood in the stool
  • chronic nose bleeds
  • water in the lungs
  • various infections
  • faster than normal breathing
  • gastrointestinal bleeding
  • depression
  • confusion
  • digestive problems

 

Children's Liver Symptoms Summary
Liver-affected children with Alpha-1 may experience some or all of the following symptoms. All symptoms should be reported to the child's doctor.

  • jaundice at birth
  • foul-smelling stools
  • enlarged spleen, abdomen
  • small liver
  • cirrhosis
  • portal hypertension
  • varices of the esophagus (swollen blood vessels in the esophagus)
  • slow to gain weight
  • slow eating
  • vomiting, nausea
  • problems nursing
  • itching
  • pale stools-almost white
  • abnormal bile flow
  • liver inflammation
  • reflux
  • loss of appetite
  • lack of energy
  • elevated liver enzymes

 

Treatment Options
There is no specific treatment for Alpha-1 associated liver disease. Clinical care primarily consists of treating biochemical abnormalities and providing supportive measures, which address symptoms. Preventing potential complications is also vital. It is extremely important to avoid cigarette smoking and known liver toxins such as alcohol. Additionally, a healthy diet is essential.

Liver transplantation is sometimes a necessary life-saving measure. Fortunately, studies indicate that only a small percentage of the liver affected Alpha-1 community require liver transplantation. Clinical centers have observed that a number of patients with severe liver dysfunction have a low rate of disease deterioration and are able to live a relatively normal life for long periods of time. When a liver transplant is performed, the donor liver makes normal alpha-1 antitrypsin and releases it into the blood, thus, in a practical sense, the affected individual no longer has Alpha-1!

While living related donor liver transplantation is becoming more popular as understanding and techniques improve, it is rarely used as an option for Alpha-1 patients since family members of individuals with Alpha-1 liver disease may well have one or two abnormal alleles.  However, family members who do not carry a deficient allele for Alpha-1 can be considered for living donor transplantation and Alphas have had successful living donor transplants from friends.

Much research is currently being done to evaluate ways of protecting the liver from injury or even to trick the liver into releasing the alpha-1 antitrypsin protein trapped within the liver cells. If successful such a treatment could lead to a cure for Alpha-1

For more information on Alpha-1 associated liver disease in children and adults, please visit the Alpha-1 Foundation at Alpha-1 Liver Disease