What is it about?

The discovery of Alpha-1 Antitrypsin Deficiency took dedicated and innovative scientists. While there work broke the ice on this unknown disease the is much to be done to raise awareness and access to treatment for those living with the specificity. At the present testing is not routine and means many don't access treatment that can alter the disease course. The more we learn the more it is clear that healthcare teams need to develop a great awareness of the condition and utilize novel and established testing options.

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Why is it important?

Alpha-1 Antitrypsin Deficiency is a know condition progressive condition that impacts patient quality and quantity of life. Infusions treatments are an established safe and effective way to slow the progression. Despite known genotypes, the phenotypical presentation is not triggering the needed testing to connect patients with proper support.

Perspectives

While the field has developed since 1963 there is much to be done to support the 1 in 5,000 Canadian affected.

Professor Kenneth R Chapman
University of Toronto

Read the Original

This page is a summary of: Bench to Bedside and Back: The Evolving Story of Alpha-1 Antitrypsin Deficiency, American Journal of Respiratory Cell and Molecular Biology, October 2020, American Thoracic Society, DOI: 10.1165/rcmb.2020-0243ed.
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