Related Experiment Video
Updated: Mar 15, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Alpha-1 Antitrypsin Deficiency: Phenotypes and Quality of Life
1Lung Investigation Unit, Queen Elizabeth Hospital, Edgbaston, Birmingham, United Kingdom.
Abstract:
Alpha-1 antitrypsin deficiency (AATD) is a recognized genetic cause of rapidly progressive loss of lung function conventionally assessed by the decline in FEV1. However, there is less information concerning other physiological measures and the impact on quality of life. Data derived predominantly from the UK national registry show that AATD presents with various physiological phenotypes with differing clinical impact and progression. In general, the decline in quality of life is surprisingly slow despite rapid loss of lung function, which may reflect the benefits of centralized services for patients with AATD. Use of the new GOLD classification identifies patient characteristics that relate to mortality and disparate symptomatology despite similar spirometric impairment.
Related Concept Videos
COPD: Pathogenesis and Clinical Features
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
COPD: Management Using Bronchodilators and Corticosteroids
Asthma-III: Symptoms and Complications
Classification of Asthma
Chronic Obstructive Pulmonary Disease-II: Pathophysiology
Chronic Inflammation
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

