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Alpha-1 Antitrypsin Deficiency – Not A Rare Disease, But Rarely Diagnosed
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Alpha 1-antitrypsin deficiency is a genetic disorder that causes defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. There are several forms and degrees of deficiency; the form and degree depend on whether the sufferer has one or two copies of the defective allele because it is a co-dominant trait. Severe A1AT deficiency causes panacinar emphysema or COPD in adult life in many people with the condition (especially if they are exposed to cigarette smoke). The disorder can lead to various liver diseases in a minority of children and adults, and occasionally more unusual problems. It is treated through avoidance of damaging inhalants and, in severe cases, by intravenous infusions of the A1AT protein or by transplantation of the liver or lungs. It usually produces some degree of disability and reduces life expectancy.

Imagine-- a rare disease that’s rarely diagnosed-- because it mimics so many other diseases.
We’re talking about Alpha-1 Anti-TRIP-sin Deficiency – or AAT -- a hereditary condition that may cause lung disease and liver disease. Dr. Kyle Hogarth, a Pulmonologist, at the University of Chicago and an expert in pulmonary diseases, joins us to discussAlpha-1 Anti-trip-sin Deficiency. It puts you at a higher risk for developing lung diseases, such as emphysema, as well as liver disease. It’s often linked with those conditions. But it’s a genetic condition-- passed from parents to their children.Who’s at risk of getting this condition? What tests determine if you have it? And what lifestyle changes can help patients cope with this disease? We have lots of insight.

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