King Of Pop's Reported Diagnosis Sheds Light On Relatively Unknown Disease

Main Category: Respiratory / Asthma
Also Included In: Genetics
Article Date: 27 Dec 2008 - 1:00 PDT

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In light of reports that Michael Jackson is suffering from a rare respiratory condition caused by Alpha 1-Antitrypsin Deficiency, Jeffrey Teckman, M.D., associate professor of pediatrics, biochemistry and molecular biology at Saint Louis University School of Medicine, is available to talk about the diagnosis, causes and treatment of the disease. Teckman has published extensive research on Alpha 1-Antitrypsin Deficiency and is recognized as one of the leading authorities in the country on the disease.

Alpha 1-Antitrypsin Deficiency is a relatively common, yet highly undiagnosed genetic disease which can affect the liver, lungs and skin. By mapping out the injury cascade (how the disease progresses) that occurs in patients with Alpha 1-Antitrypsin Deficiency, Teckman has opened the door for testing of potential treatments for the disease.

"When a normal person comes in contact with a germ, either through skin exposure or breathing it into their lungs, the body sends white blood cells, which dump toxic chemicals on the germ to digest it. The purpose of alpha 1-antitrypsin is to keep these toxic chemicals from harming the lungs or skin," explained Teckman, who also is the director of gastroenterology and hepatology at Cardinal Glennon Children's Medical Center in St. Louis.

However, in people with Alpha 1-Antitrypsin Deficiency, the liver produces Alpha 1-antitrypsin but fails to secrete the glycoprotein into the blood, which leads to a blood deficiency and an excess of the glycoprotein in the liver.

"Without alpha 1-antitrypsin the body is essentially attacking itself. Over time this can lead to emphysema and hepatocellular carcinoma," Teckman said.

According to Teckman, there are at least 100,000 people in America living with this disease, but the majority of them are undiagnosed. While many people with the disease will go on to live a normal life, Alpha 1-Antitrypsin Deficiency can be fatal.

"Diagnosis is important because lifestyle changes can impact the progression of the disease," Teckman said. "It's especially important for people with Alpha 1-Antitrypsin Deficiency to avoid smoking and watch their weight."

Established in 1836, Saint Louis University School of Medicine has the distinction of awarding the first medical degree west of the Mississippi River. The school educates physicians and biomedical scientists, conducts medical research, and provides health care on a local, national and international level. Research at the school seeks new cures and treatments in five key areas: cancer, liver disease, heart/lung disease, aging and brain disease, and infectious disease.

Saint Louis University Medical Center
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United States
http://www.slu.edu/pr