α1-Antitrypsin deficiency
- Correspondence to:
J K Stoller
Division of Medicine, Cleveland Clinic Lerner College of Medicine, Section of Respiratory Therapy, Department of Pulmonary/Critical Care Medicine, Cleveland Clinic Foundation, 9500 Euclid Av, Cleveland OH 44195, USA; stollejccf.org
A new series focusing on this important and under-recognised illness
Alpha1-antitrypsin (AAT) deficiency is a common but under-recognised clinical entity.1–3 The editors of Thorax have therefore commissioned a series of papers by internationally recognised experts on the key clinical and investigative concepts in this important disease, which will offer the reader an up to date summary of AAT deficiency. Topics to be addressed include:
-
the epidemiology of AAT deficiency;
-
genetic aspects of AAT deficiency: phenotypes and genetic modifiers of emphysema;
-
clinical manifestations and natural history of AAT deficiency;
-
molecular pathophysiology of AAT deficiency;
-
pathogenesis of lung disease in AAT deficiency;
-
intravenous augmentation therapy for AAT deficiency: current understanding;
-
new and emerging therapies for AAT deficiency; and
-
CT imaging in AAT deficiency.
Why this attention to AAT deficiency now? As mentioned above, despite the fact that it affects up to …
