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. OBJECTIVES: 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.
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. OBJECTIVES: 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.
Authors: Brian C Gulack; Michael S Mulvihill; Asvin M Ganapathi; Paul J Speicher; Godefroy Chery; Laurie D Snyder; R Duane Davis; Matthew G Hartwig Journal: Transpl Int Date: 2017-09-12 Impact factor: 3.782
Authors: Virginia C Clark; Renumathy Dhanasekaran; Mark Brantly; Farshid Rouhani; Pamela Schreck; David R Nelson Journal: Clin Gastroenterol Hepatol Date: 2012-07-24 Impact factor: 11.382
Authors: Tunda Hidvegi; Donna B Stolz; John F Alcorn; Samuel A Yousem; Jieru Wang; Adriana S Leme; A McGarry Houghton; Pamela Hale; Michael Ewing; Houming Cai; Evelyn Akpadock Garchar; Nunzia Pastore; Patrizia Annunziata; Naftali Kaminski; Joseph Pilewski; Steven D Shapiro; Stephen C Pak; Gary A Silverman; Nicola Brunetti-Pierri; David H Perlmutter Journal: J Biol Chem Date: 2015-10-22 Impact factor: 5.157