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Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. [1] Onset of lung problems is typically between 20 and 50 years of age. [ 1 ] This may result in shortness of breath , wheezing , or an increased risk of lung infections .
Alpha-1 antitrypsin deficiency is a genetic risk factor that may lead to the condition presenting earlier. [9] When associated with significant airflow limitation, emphysema is a major subtype of chronic obstructive pulmonary disease (COPD), a progressive lung disease characterized by long-term breathing problems and poor airflow.
Alpha-1 antitrypsin or α 1-antitrypsin (A1AT, α 1 AT, A1A, or AAT) is a protein belonging to the serpin superfamily. It is encoded in humans by the SERPINA1 gene.A protease inhibitor, it is also known as alpha 1 –proteinase inhibitor (A1PI) or alpha 1-antiproteinase (A1AP) because it inhibits various proteases (not just trypsin). [5]
Several hereditary conditions – Marfan syndrome, homocystinuria, Ehlers–Danlos syndromes, alpha 1-antitrypsin deficiency (which leads to emphysema), and Birt–Hogg–Dubé syndrome – have all been linked to familial pneumothorax. [20]
Alpha 1-antitrypsin deficiency is a fairly rare genetic condition that results in COPD (particularly emphysema) due to a lack of the antitrypsin protein which protects the fragile alveolar walls from protease enzymes released by inflammatory processes. [citation needed]
The effectiveness of alpha-1 antitrypsin augmentation treatment for people who have alpha-1 antitrypsin deficiency is unclear. [232] A later clinical trial of double-dosing has shown some improvements in slowing the breakdown of elastin and the progression of emphysema with further studies being called for. [233]
John W. Walsh (February 4, 1949 – March 7, 2017) was an American non-profit leader and patient advocate.After being diagnosed with alpha-1 antitrypsin deficiency, he co-founded the Alpha-1 Foundation and AlphaNet, both of which serve people diagnosed with that condition, and the COPD Foundation, which serves people with chronic obstructive pulmonary disease.
Deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [7] Alpha 1-antichymotrypsin is also associated with the pathogenesis of Alzheimer's disease as it enhances the formation of amyloid-fibrils in this disease. [6]
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