It is challenging for physicians to diagnose AATD in a patient with an existing asthma diagnosis since so many symptoms overlap.
Self-infusion is an option for patients with alpha-1 antitrypsin deficiency, meaning that the bulk of treatment can now take place at home.
Researchers are increasingly exploring the potential of gene therapy in treating respiratory diseases.
Today, experts are increasingly recognizing the positive role that ordinary physicians can play in refining diagnostic and management guidelines.
We examine the lasting impact of innovative clinical trial designs for rare diseases on other clinical experiments.
We explore the various pulmonary and extrapulmonary manifestations of AATD, and the role of AAT augmentation therapy in both sets of symptoms.
We discuss the increasingly prevalent role of precision medicine in treating genetic diseases such as alpha-1 antitrypsin deficiency (AATD).
We explore the evidence on the pathological effects of AATD on the human liver, particularly in individuals with the Pi*ZZ mutation.
Protein misfolding and its consequences are a key mechanism in the pathophysiology of alpha-1 antitrypsin deficiency.