Alpha-1 Antitrypsin Deficiency: Inherited Liver Disease
How can Alpha-1 Antitrypsin Deficiency be both “inherited liver disease” and “inherited lung disease”? What happens with Alpha-1 Antitrypsin in the liver?
What are the symptoms of Alpha-1 inherited liver disease?
How is Alpha-1 inherited liver disease diagnosed?
What is the treatment of Alpha-1 inherited liver disease?
What is the prognosis for Alpha-1 inherited liver disease?
What is the role of National Jewish Health?
How can Alpha-1 Antitrypsin Deficiency be both “inherited liver disease” and “inherited lung disease”?
Some conditions like Alpha-1 Antitrypsin Deficiency, sometimes called just Alpha-1, can affect multiple organs in the body. In the case of Alpha-1, the two major organs affected are the lungs and the liver. The reason is because the defective protein that characterizes Alpha-1 Antitrypsin Deficiency is important to both of these vital organs.
What happens with Alpha-1 Antitrypsin in the liver?
The liver is a vital organ whose job it is to clean the blood of toxins. However, this is not the only function the liver performs. Special liver cells are also responsible for making important proteins. One of these proteins is Alpha-1 Antitrypsin. This major protein in the blood protects the lungs and other organs in the body from being damaged by an overzealous immune system. It does this by inactivating enzymes released by white blood cells whose purpose is to destroy foreign invaders like viruses or bacteria or infected cells. Without Alpha-1 Antitrypsin to turn off the destructive power of these defensive enzymes, they start to chew up the bodies’ normal proteins.
A person who has Alpha-1 Antitrypsin Deficiency makes a defective version of this protein in the liver that tends to ‘stick’ together and polymerize (forms long chains of many molecules bonded together). When this happens, the Alpha-1 polymers (chains) cannot be transported out of the liver cells where they are made. This has the dual effect of ‘clogging’ liver cells, and of not allowing delivery of the protein to organs like the lungs that need Alpha-1 Antitrypsin to function properly.
Who gets Alpha-1 inherited liver disease?
Although rare, Alpha-1 is the most common genetic cause of liver disease in children. While the incidence of Alpha-1 in the US is about 1 in 2000 live births, less than 5% of babies born with Alpha-1 will have severe liver disease.
Since Alpha-1 is a genetic condition, a person needs two copies of the faulty gene (one from each parent) to have the severe form of this condition. If there is concern about passing on Alpha-1 to your children, a genetic test is available to determine if you are a carrier (a person with only one copy of the defective gene). It is probably not necessary to get tested unless you or your family members have a history of Alpha-1, or of chronic emphysema or unexplained liver disease.
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What are the symptoms of Alpha-1 inherited liver disease?
Symptoms can appear in the first several weeks after birth (newborn period) and include jaundice (yellowing of skin), abdominal swelling, and/or poor feeding.
Symptoms may also appear in late childhood or adulthood and may include: fatigue, poor appetite, abdominal swelling, swelling of the legs, and abnormal liver tests.
How is Alpha-1 inherited liver disease diagnosed?
A diagnosis of Alpha-1 is confirmed when the serum (liquid part of blood) level of the Alpha-1 protein is low, and standard liver function tests are abnormal. Other tests such as urine analysis, ultrasound exams, or specialized X-ray tests may also be necessary. A biopsy of the liver is also usually performed to check for liver damage.
What is the treatment of Alpha-1 inherited liver disease?
Even though there is currently no cure outside of a liver transplant, Alpha-1 can be treated. Treatment is designed to minimize symptoms and prevent organ damage. This is accomplished by maintaining appropriate nutrition and ensuring that the body is getting all essential nutrients. Often, supplemental vitamins E, D, and K are prescribed. Phenobarbital, or cholestyramine may be prescribed for severe jaundice or itching. Diuretics may be prescribed if the disease progresses and excess body fluid develops. If increased blood pressure occurs in the vessels feeding the liver (portal hypertension) surgical interventions may be needed to prevent bleeding from the veins in the stomach or esophagus. Liver transplantation is an option of last resort in the case of liver failure, or when normal functioning at school, work, or home becomes impossible. A successful liver transplant can ‘cure’ Alpha-1 as well as the liver problems it caused.
What is the prognosis for Alpha-1 inherited liver disease?
The long-term outcome of Alpha-1 is variable. Roughly 25% of affected patients will develop cirrhosis of the liver at some point in their lives. However, 75% of affected individuals will not have significant liver disease after the newborn period.
What is the role of National Jewish Health?
As the nation’s best respiratory hospital, National Jewish Health is one of the best places in the world to be treated for emphysema caused by Alpha-1 Antitrypsin Deficiency. Furthermore, our doctors are some of the world’s best and have every necessary tool at their fingertips to diagnose Alpha-1 Antitrypsin Deficiency. While we do not treat infants or children with Alpha-1, we have a close working relationship with the Children’s Hospital in Denver and will make a referral to the appropriate pediatric specialist.
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This information has been approved by Robert Sandhaus, MD, Ph.D. (January 2007).
