Obstructive Lung Diseases |

Prevalence of an Abnormal Alpha-1 Antitrypsin Phenotype in a Rural Community in Southwest Missouri FREE TO VIEW

Navid Zaidi*, MBBS; Emma Jo Walker, RN
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St. John's Regional Medical Center, Joplin, MO

Chest. 2012;142(4_MeetingAbstracts):723A. doi:10.1378/chest.1358467
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PRESENTED ON: Wednesday, October 24, 2012 at 01:30 PM - 02:30 PM

PURPOSE: Alpha-1 Antitrypsin (AAT) deficiency is considered a rare disease and this impression has resulted in infrequent orders for tests for detection of this genetic disease. The purpose of this study was to detect an abnormal AAT phenotype in a group of subjects in a rural community in Southwest Missouri.

METHODS: We performed free testing for AAT deficiency at a health fair in Mt. Vernon, Missouri (Population 4,575) in February 2011. Blood sampling was done by finger prick method on adult men and women if they gave a personal history of COPD, emphysema, chronic bronchitis, asthma or a family history of any of these conditions. The blood samples were shipped to Alpha One Center in Salt Lake City, Utah for AAT deficiency testing by immunoassay.

RESULTS: There were 65 subjects (49 women, 16 men, mean age 56, age range 21-91). All were white caucasians. Thirteen (20%) subjects were found to have an abnormal AAT phenotype. Out of the thirteen abnormal phenotypes 2 had MZ phenotype, 2 had FM phenotype and 9 had MS phenotype. None of the subjects with an abnormal AAT phenotype had an AAT concentration below 80 mg/dl. The rest of the 52 subjects had normal MM phenotypes.

CONCLUSIONS: An abnormal AAT phenotype is a frequent finding in rural Southwest Missouri.

CLINICAL IMPLICATIONS: Alpha-1 Antitrypsin deficiency testing should be routinely performed in patients with obstructive lung diseases. An early detection of AAT deficiency would enable patients and their families to make lifestyle changes to either prevent or postpone the development of functional impairment.

DISCLOSURE: Navid Zaidi: Consultant fee, speaker bureau, advisory committee, etc.: Advisory Board Honorarium from CSL Behring

The following authors have nothing to disclose: Emma Jo Walker

No Product/Research Disclosure Information

St. John's Regional Medical Center, Joplin, MO




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