BACKGROUND: Alpha-1 antitrypsin deficiency is under-recognized. We hypothesized that respiratory therapists (RTs) could help improve the detection rate of individuals with alpha-1 antitrypsin deficiency. The American Association for Respiratory Care (AARC) and Alpha-1 Foundation recently collaborated to create an online alpha-1 antitrypsin deficiency training program for RTs. This study aimed to determine (1) the rate of RT enrollment in the training program, (2) the rates of detecting individuals with alpha-1 antitrypsin deficiency referred for testing by RTs who took the online course ("trained RTs"), and (3) the genotype distribution of referred individuals found to have alpha-1 antitrypsin deficiency. METHODS: Patients referred by trained RTs submitted blood samples for alpha-1 antitrypsin deficiency testing through the existing Alpha-1 Coded Testing (ACT) Study. The AARC sent the first 3 digits of trained RTs' zip codes to the study data center. Investigators there matched those zip codes with those of patients in the ACT Study who reported being referred to the study by an RT. The data center determined the number of these patients with alpha-1 antitrypsin deficiency and their genotypes. Investigators then aggregated the data and calculated the RT enrollment rate, the rate of detecting individuals with alpha-1 antitrypsin deficiency, and the distribution of genotype results. RESULTS: Between July 1, 2012, and June 30, 2013, 378 RTs took the online program (mean 21/mo), and 326 patients reported that they were referred for testing by an RT. Thirty-four percent (111/326) of these referrals were by trained RTs (6.2/mo). Sixty-two test blood kits were returned by these 111 referred patients and analyzed (4/mo). Two of these specimens (3.2%) were from patients identified as having severe alpha-1 antitrypsin deficiency (PI*ZZ) and one from a patient with PI*SZ (serum level 14 μM). Twenty-four percent were from PI*MZ heterozygotes. CONCLUSIONS: A program to educate RTs about alpha-1 antitrypsin deficiency was associated with referral of patients for alpha-1 antitrypsin deficiency testing and high rates of detecting individuals with severe alpha-1 antitrypsin deficiency.
BACKGROUND:Alpha-1 antitrypsin deficiency is under-recognized. We hypothesized that respiratory therapists (RTs) could help improve the detection rate of individuals with alpha-1 antitrypsin deficiency. The American Association for Respiratory Care (AARC) and Alpha-1 Foundation recently collaborated to create an online alpha-1 antitrypsin deficiency training program for RTs. This study aimed to determine (1) the rate of RT enrollment in the training program, (2) the rates of detecting individuals with alpha-1 antitrypsin deficiency referred for testing by RTs who took the online course ("trained RTs"), and (3) the genotype distribution of referred individuals found to have alpha-1 antitrypsin deficiency. METHODS:Patients referred by trained RTs submitted blood samples for alpha-1 antitrypsin deficiency testing through the existing Alpha-1 Coded Testing (ACT) Study. The AARC sent the first 3 digits of trained RTs' zip codes to the study data center. Investigators there matched those zip codes with those of patients in the ACT Study who reported being referred to the study by an RT. The data center determined the number of these patients with alpha-1 antitrypsin deficiency and their genotypes. Investigators then aggregated the data and calculated the RT enrollment rate, the rate of detecting individuals with alpha-1 antitrypsin deficiency, and the distribution of genotype results. RESULTS: Between July 1, 2012, and June 30, 2013, 378 RTs took the online program (mean 21/mo), and 326 patients reported that they were referred for testing by an RT. Thirty-four percent (111/326) of these referrals were by trained RTs (6.2/mo). Sixty-two test blood kits were returned by these 111 referred patients and analyzed (4/mo). Two of these specimens (3.2%) were from patients identified as having severe alpha-1 antitrypsin deficiency (PI*ZZ) and one from a patient with PI*SZ (serum level 14 μM). Twenty-four percent were from PI*MZ heterozygotes. CONCLUSIONS: A program to educate RTs about alpha-1 antitrypsin deficiency was associated with referral of patients for alpha-1 antitrypsin deficiency testing and high rates of detecting individuals with severe alpha-1 antitrypsin deficiency.
Authors: Landy V Luna Diaz; Isabella Iupe; Bruno Zavala; Kira C Balestrini; Andrea Guerrero; Gregory Holt; Rafael Calderon-Candelario; Mehdi Mirsaeidi; Michael Campos Journal: Int J Chron Obstruct Pulmon Dis Date: 2017-07-31
Authors: Mark Brantly; Michael Campos; Angela M Davis; Jeanine D'Armiento; Kenneth Goodman; Kathi Hanna; Miriam O'Day; John Queenan; Robert Sandhaus; James Stoller; Charlie Strange; Jeffrey Teckman; Adam Wanner Journal: Orphanet J Rare Dis Date: 2020-04-19 Impact factor: 4.123