RT Journal Article
SR Electronic
T1 Primary care diagnosis of alpha-1 antitrypsin deficiency: Issues and opportunities
JF Cleveland Clinic Journal of Medicine
JO Cleve Clin J Med
FD Cleveland Clinic
SP 869
OP 874
VO 74
IS 12
A1 James K. Stoller
A1 Leonard Fromer
A1 Mark Brantly
A1 James Stocks
A1 Charlie Strange
YR 2007
UL http://www.ccjm.org/content/74/12/869.abstract
AB Alpha-1 antitrypsin deficiency—an autosomal co-dominant 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.