PMID: 18183837Jan 11, 2008Paper

Primary care diagnosis of alpha-1 antitrypsin deficiency: issues and opportunities

Cleveland Clinic Journal of Medicine
James K StollerCharlie Strange

Abstract

Alpha-1 antitrypsin deficiency--an autosomal codominant condition that predisposes to emphysema and also to liver disease--affects 100,000 Americans, yet in many cases the condition is either not diagnosed or the time between first symptoms and diagnosis is long. Because primary care physicians care for large numbers of patients with chronic obstructive pulmonary disease, enhanced suspicion of and testing for alpha-1 antitrypsin deficiency in the primary care setting would help identify people affected with this condition. The authors discuss impediments to diagnosis and drivers to making the diagnosis of alpha-1 antitrypsin deficiency, and they suggest several measures to enhance clinicians' recognition of the condition.

Citations

Dec 21, 2013·The Journal of Clinical Investigation·Shuling GuoBrett P Monia
Apr 3, 2013·COPD·James K Stoller, Mark Brantly
Jun 22, 2013·Respiratory Medicine·Timm GreulichIlaria Ferrarotti
Nov 18, 2008·Respiratory Medicine·Loutfi S Aboussouan, James K Stoller
Mar 4, 2011·Respiratory Medicine·Sabina M JanciauskieneTobias Welte
Sep 20, 2011·Biochemical and Biophysical Research Communications·Mikell PaigeY Michael Shim
Aug 27, 2016·Annals of the American Thoracic Society·James K Stoller
Sep 6, 2015·Therapeutic Advances in Respiratory Disease·Timm Greulich, Claus F Vogelmeier
Sep 21, 2017·Postgraduate Medicine·Jorge E Lascano, Michael A Campos
Jan 29, 2013·American Journal of Clinical Pathology·Dina N GreeneDavid G Grenache
Sep 15, 2012·Journal of Leukocyte Biology·Edward D ChanLeland Shapiro
Jul 31, 2008·Clinical Chemistry·Marion L Snyder, Corinne R Fantz
Jan 10, 2016·American Journal of Physiology. Lung Cellular and Molecular Physiology·Nivedita TiwariSreerama Shetty

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