title: Severe, early-onset emphysema with normal alphal-antitrypsin levels in nonsmokers: a clinical dilemma.
abstract: Approximately 85% of all cases of chronic obstructive pulmonary disease are attributed to cigarette smoking. The only other established risk factor for the development of chronic obstructive pulmonary disease that is of comparable importance is the deficiency of alpha1-antitrypsin, a rare genetic defect that is present in less than 1% of all cases. Other risk factors are not well characterized in the literature. This article describes one patient without a significant smoking history and with a normal alphaa-antitrypsin level who developed severe early-onset emphysema and gives a brief discussion about other genetic and environmental risk factors for the development of emphysema.
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Temple University Hospital, Philadelphia, Pennsylvania 19140, USA. drvk@hotmail.com
authors.forename: Victor
authors.initials: V
authors.lastname: Kim
authors.forename: Friedrich
authors.initials: F
authors.lastname: Kueppers
authors.forename: Gilbert E
authors.initials: GE
authors.lastname: D'Alonzo
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D011656:Pulmonary Emphysema / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology*; D012129:Respiratory Function Tests; D012720:Severity of Illness Index; D013997:Time Factors; D014057:Tomography, X-Ray Computed; D000515:alpha 1-Antitrypsin / Q000097:blood*
chemical_list: D015415:Biomarkers; D000515:alpha 1-Antitrypsin