Liver Diseases

Alpha 1-Antitrypsin Deficiency

Alpha 1-Antitrypsin (AAT) Deficiency. AAT (also known as alpha1 proteinase inhibitor) is a protein that is made primarily in the liver. AAT belongs to a group of proteins which help prevent certain white blood cell enzymes (proteinases) from going beyond their regular infection-fighting functions to attack healthy body tissue. When the body doesn’t make enough AAT, the lungs often don’t work as efficiently (patients tend to develop emphysema) and the liver may be adversely affected, leading to cirrhosis. AAT deficiency is an inherited condition with two defective genes passed along– one by each parent. This rare deficiency affects fewer than 100,000 Americans

This inherited disease, which occurs most often in people of Swedish and Portuguese descent, is a mutation of the transthyretin (TTR) molecule. Instead of the TTR protein being formed, an incorrect protein – amyloid – is produced.

With this condition, amyloids are found throughout the body, destroying nerves and interfering with other organs. Neurological symptoms, low blood pressure, and muscle wasting are common manifestations of the disease, which can run a course of several years but has no cure. Because TTR is made in the liver, liver transplantation has been used as treatment.

Eating wild mushrooms can make a person severely ill, or in the worst-case scenario, cause a painful death. One particular type of mushroom, the Amanita phalloides,

causes about 90 percent of all mushroom eating-related deaths. Mushroom poisoning typically involves a latent period of as long as 24 hours, when no symptoms are felt, followed by extreme gastrointestinal upset; damage to several organs, including the liver; heart failure; seizures; and coma.

The mushrooms’ toxins can have an especially severe effect on the liver, attacking the organ’s cells and shutting down some of its key functions. When the liver begins to fail but there is medical reason to believe the patient could survive the poisoning, that person may be a candidate for liver transplantation.

This is a congenital (individuals are born with this problem) condition, which may not be recognizable until adulthood. When large cysts form in the liver, the condition is known as polycystic liver disease. It’s common for patients with polycystic liver disease to also have cysts in their kidneys, or polycystic kidney disease. When polycystic liver disease is severe, the liver looks like a sponge. Polycystic liver disease rarely causes liver failure, despite the presence of hundreds of cysts. The most common symptoms are enlargement of the abdomen and pain, which sometimes require treatment. Treatment consists of either aspiration under x-ray guidance or “unroofing” by creating an opening in the cyst wall for drainage, a procedure known as fenestration. The relief from aspiration is less durable than with fenestration. Rarely, the severity of the pain calls for liver transplantation.

Normally, the liver helps the body rid itself of copper. In people with Wilson’s disease, the gene responsible for this process is defective, and copper builds up in the liver, the brain, and other organs. Over time, too much copper in the liver can lead to symptoms such as jaundice and swelling of the abdomen and, untreated, lead to acute liver failure, a

need for liver transplantation, or death. Many patients, when diagnosed early on, respond well to the drugs that help remove copper from the bloodstream. They must take the medicine for the rest of their lives. There is an acute form of Wilson’s disease in which the copper overload is swift and the organ damage is rapid. In these cases with liver failure, liver transplantation is life-saving.