title: A diagnostic dilemma: case study of a 36-year-old female with alpha-1-antitrypsin deficiency.
abstract: Alpha-1-antitrypsin deficiency is a genetic disorder that presents as early-onset emphysema in its most severe form. A high index of clinical suspicion is needed in cases of lung or liver disease of unknown etiology or a suggestive history and physical examination. Low or absent serum levels of alpha-1-antitrypsin levels identify persons with the disease and phenotyping is the confirmatory test. The main goal of management is attempting to prevent or slowing the progression of damage to the lungs. Medical and surgical options for treatment include augmentation therapy that maintains protective levels of AAT in the lung and serum and lung transplantation may be necessary in severe cases. We present this case report of a patient with Alpha-1-antitrypsin deficiency in order to increase awareness of this condition since early diagnosis improves long-term prognosis and reduces the overall cost of therapy.
authors.affiliation: Dept. of Pediatrics, West Virginia University School of Medicine, Charleston Division, USA.
authors.forename: Remi A
authors.initials: RA
authors.lastname: Lawrence
authors.forename: James P
authors.initials: JP
authors.lastname: Clark
mesh_terms: D000328:Adult; D000420:Albuterol / Q000031:analogs & derivatives / Q000627:therapeutic use; D000730:Androstadienes / Q000627:therapeutic use; D003937:Diagnosis, Differential; D004338:Drug Combinations; D005260:Female; D000068297:Fluticasone-Salmeterol Drug Combination; D006801:Humans; D008171:Lung Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000150:complications / Q000175:diagnosis*
chemical_list: D000730:Androstadienes; D004338:Drug Combinations; D000068297:Fluticasone-Salmeterol Drug Combination; D000420:Albuterol