Alpha 1 in the News

Nathaniel was diagnosed with Alpha 1 Antitrypsin Deficiency when he was about six weeks old.  Due to some liver problems, he had to take medicine twice daily until he was 4.  Who knows what future medical treatment holds, but at this point it means in order to maximize his shortened life span he needs to do a whole lot of clean living. (Fortunately, he was born into the right family and set of religious beliefs for that.)

Anyway, Todd's mom told us today that Alpha 1 is in the news thanks to none other than Michael Jackson.  Not the person I would have chosen to highlight, but whatever.  All the reports I read of him are, if they are true, sloppy reporting at best. The mention of internal bleeding and blindness in the articles is ridiculous as neither one of those things are in any way connected with Alpha 1.   Here are a few facts about Alpha 1 from Web MD (which is not my favorite site for many reasons, but happened to have a relatively concise explanation, so I'm forgiving them this time.):

Alpha-1 Antitrypsin Deficiency
In this inherited liver disease an important liver protein known as alpha-1 antitrypsin, is either lacking or exists in lower than normal levels in the blood. People with alpha-1 antitrypsin deficiency are able to produce this protein; however, the disease prevents it from entering the bloodstream and it instead accumulates in the liver.

Alpha-1 antitrypsin protein protects the lungs from damage due to naturally occurring enzymes. When the protein is too low or non-existent, the lungs can become damaged, leading to difficulty breathing and, in about 75% of the people with the condition, emphysema. People with this disease are also at risk of developing cirrhosis.

What Are the Symptoms of Alpha-1 Antitrypsin Deficiency?
The first symptoms of alpha-1 antitrypsin deficiency will usually be symptoms of its effects on the lungs, including shortness of breath or wheezing. Unexplained weight loss and a barrel-shaped chest, which is commonly associated with the presence of emphysema, are also signs of the condition. As the disease progresses, symptoms typical of emphysema or cirrhosis may appear, and include:

Fatigue
Chronic cough
Swelling of the ankles and feet
Jaundice
Fluid in the abdomen (ascites)
How Is Alpha-1 Antitrypsin Deficiency Diagnosed and Treated?
Physical signs, such as a barrel-shaped chest and respiratory problems, may lead your doctor to suspect alpha-1 antitrypsin deficiency. A blood test that tests specifically for the alpha-1 antitrypsin protein will help confirm the diagnosis.

There is no established treatment to cure alpha-1 antitrypsin deficiency but it can be treated by replacing the protein in the bloodstream. However, experts are not clear on how effective this technique is and who should receive it. Other approaches to treating alpha-1 antitrypsin deficiency involve treating the complications such as emphysema and cirrhosis. This includes antibiotics to combat respiratory infections, inhaled medication to make breathing easier, and diuretics and other measures to reduce any fluid build up in the abdomen.

Personal behavior, such as avoiding alcohol, quitting smoking, and eating a healthy diet, can also help keep symptoms and complications from becoming severe. Your doctor or dietitian can recommend a diet that is right for you.

Because the disease affects the lungs, people with the condition are more prone to respiratory infections. Therefore both flu and pneumonia vaccinations are recommended to help prevent these infections. If you feel you are developing a cold or cough, contact your doctor so treatment can begin as soon as possible. Occasionally the lungs or liver deteriorates despite treatment. In such cases, liver transplantation may be advised.