Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Alpha-1-Antitrypsin Deficiency is a rare disorder where the body makes an enzyme called alpha-1-antitrypsin (AAT) that does not work. This enzyme is needed to protect the lungs. Also, the non-working enzyme can build up in the liver and cause harm. Not having the enzyme AAT can result in lung and liver disease.

Who

The incidence of alpha-1-antitrypsin deficiency in the United States is approximately 1 in 2000 live births. Fortunately, for reasons that are not understood, only 10-20% of the babies born with the deficiency will have liver disease.

Signs and Symptoms

Babies are usually diagnosed within a few weeks of birth because their skin and the whites of their eyes have a yellow tint called jaundice. They may have problems nursing, be slow eaters, and are slow to gain weight. In some children, the signs of alpha-1-antitrypsin deficiency do not become apparent until later during childhood or adolescence. They may have vomiting, nausea, or itching. Stools can be foul smelling, fatty, or pale in color and appear almost white. They can develop a loss of appetite or lack of energy. The liver may become small, the spleen may become large, and the abdomen may become large and protrude because fluid accumulates.

Possible Causes

All of us have genetic material that makes us who we are. The genetic material referred to as “chromosomes” are numbered. The gene for AAT has been found on chromosome 14 called the SERPINA1 gene. Mistakes in this gene cause AAT. AAT is an autosomal recessive genetic disorder. This means that each parent has one abnormal gene and one normal gene on chromosome 14. Because each parent has one normal gene, they themselves do not have AAT. However, when the child receives one abnormal gene from each of the parents, the child has two affected genes on chromosome 14. In autosomal recessive diseases, when a person has two abnormal genes, they are affected with disease; in this case, AAT. Alpha-1-antitrypsin is normally made by the liver and has its main function in the lungs. In the lungs, this enzyme keeps other corrosive enzymes from eating away at the lungs. Without AAT, the lung tissue gets destroyed. This can lead to emphysema, asthma, chronic bronchitis, and lung infections. In children, alpha-1-antitrypsin deficiency often has another more severe complication. The liver naturally makes AAT, but in this disorder, the liver makes an abnormal protein instead. This abnormal protein builds up and causes inflammation and destruction of the liver (called cirrhosis of the liver).

Diagnosis

The diagnosis is made by blood tests to check the level of alpha-1-antitrypsin. In alpha-1-antitrypsin deficiency, the level is low. Blood tests to check the liver are usually abnormal. Other tests such as urine collection, ultrasound examination, or X-rays may be necessary. A biopsy of the liver (where a piece of liver is taken to be examined under a microscope) is usually performed to see if the liver is damaged. Genetic testing for AAT is available.

Treatment

Since the affected person is not making AAT, there is synthetic alpha-1-antitrypsin protein that is available for treatment. This treatment can reduce lung damage. Symptoms of emphysema and asthma are treated with inhalers just like other people who have asthma. The inhalers may be used to keep airways open and help stop inflammation. To treat liver disease, sometimes a liver transplant is needed. Fortunately, only approximately 10% of affected patients need to have a liver transplant. Prevention is very important to not make the disease worse. Hence, individuals must avoid cigarette smoking, avoid medications, drugs, and vitamins that affect the liver, and have good nutrition. Currently there is no cure for the disease, but research is ongoing in this field.

Prognosis

The prognosis of this disease is variable. Approximately 25% of affected patients develop cirrhosis, but 75% of individuals will not have any significant liver disease after the newborn time. Many patients lead relatively normal lives for long periods of time. The reason for this variability is not currently understood. Liver transplantation can be done when liver failure develops and interferes with normal functioning.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Alpha One Foundation
Great resource for information about the organization, research, and news on alpha 1-antitrypsin deficiency.

Alpha Net
Good resource to help patients with alpha-1-antitrypsin deficiency to find other alpha one patients and to help patients live with their illness.

Alpha One Association
Great website for support, education, advocacy, and research about alpha-1-antitrypsin deficiency.

Google Search for Alpha-1-Antitrypsin Deficiency

References and Sources

www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400 www.alpha1.org/ www.liverfoundation.org/ www.alphaone.org/