Results of a survey of patients with alpha-1 antitrypsin deficiency.
BACKGROUND
alpha(1)-Antitrypsin deficiency (AATD) is an uncommon genetic disease which occurs in 1-2.5% of Americans with chronic obstructive pulmonary disease (COPD). Little is known about current demographics of AATD.


OBJECTIVE
This survey study reviews the clinical characteristics of diseased individuals in North America.


METHODS
A survey of members from the mailing lists of US AATD patient support organizations was commissioned with duplicate persons omitted. The survey was mailed to 5,222 unique individuals with AATD. Questionnaires were returned by 1,953 individuals, including 1,810 with severe deficiency, 93 with the carrier state and 41 who were caregivers of others.


RESULTS
The majority (81%) of participants reported COPD with symptoms of asthma, chronic bronchitis, and emphysema, usually in combination. The mean age of respondents [53.1 +/- 13.2 (SD) years] is older than the general US population. Lung or liver transplantation was reported by 9% of all respondents (n = 175), including 66 single lung transplants, 68 double lung transplants, and 47 liver transplants. Another 6.6% (n = 128) reported that they were currently on a transplant list. Twenty-one percent of lung transplants report continuing augmentation therapy use. Augmentation use is reported by 75% of those with obstructive lung disease. The majority of patients with liver disease also have COPD.


CONCLUSIONS
AATD remains a devastating illness for many of those affected as reflected in a high incidence of transplantation for liver and lung disease.
Strange
Charlie
C
Division of Pulmonary and Critical Care Medicine, Department of Medicine, Medical University of South Carolina, Charleston, 29425, USA. strangec@musc.edu
Stoller
James K
JK
Sandhaus
Robert A
RA
Dickson
Ryan
R
Turino
Gerard
G
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D002675:Child, Preschool; D005260:Female; D006304:Health Status; D006306:Health Surveys; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007262:Infusions, Intravenous; D008107:Liver Diseases / Q000453:epidemiology / Q000209:etiology / Q000628:therapy; D016031:Liver Transplantation / Q000706:statistics & numerical data; D008171:Lung Diseases / Q000453:epidemiology / Q000209:etiology / Q000628:therapy; D016040:Lung Transplantation / Q000706:statistics & numerical data; D008297:Male; D008875:Middle Aged; D010102:Oxygen Inhalation Therapy / Q000706:statistics & numerical data; D015842:Serine Proteinase Inhibitors / Q000627:therapeutic use; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D014481:United States / Q000453:epidemiology; D014850:Waiting Lists; D000515:alpha 1-Antitrypsin / Q000627:therapeutic use; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy
D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin