PURPOSE:The age at which patients are currently diagnosed with Alpha-1-antitrypsin (AAT) deficiency and the relation to sex, race, smoking history and year of the test have not being extensively studied since the development of new diagnostic methods and ATS-ERS recommendations.
METHODS:We searched the AAT deficiency genetic database at University of Florida, including all patients (pts) above the age of 16 who had an identification of the AAT genotype. We included 25,090 pts, from 8–2003 to 3–2008. Of the total, 828 studies (3.3%) have unusual mutations, were pending or failed.
RESULTS:Number of pts, age and SD of each group are MM 20,194 (80.5%), 56.8±15; MS 1,936 (7.7%) 57.2±15; MZ 1,538 (6.2%), 52.5±17; SS 88 (.4%) 54.8±15; SZ 193 (.8%), 54.4±16; ZZ 288 (1.1%), 50.8±12. Comparison of mean ages for MM with MS, MZ, SS, SZ and ZZ are p=.24, p<.000, p=.22, p=.027 and p<.000, respectively. Of the 288 ZZ individuals; 52.4% and 7.3% were 50 and 70 years old or above, respectively. There were no gender or race differences with respect of age at diagnosis. There was no significant trend between age and year of genetic test (2003–2008). Current, past and never smokers were diagnosed at 43±7, 52±10 and 51±16 years old, respectively (p<0.000 for the comparison of current and never smokers).
CONCLUSION:More than half of the individuals with AAT deficiency and ZZ alleles are genetically diagnosed after the age of 50. When compared with the normal variant (MM), individuals with alleles MZ, SZ and ZZ are diagnosed at younger age. No association between gender, race or year of genetic test and age at the time of diagnosis was found. Current smokers ZZ patients are diagnosed 8 years earlier than nonsmokers.
CLINICAL IMPLICATIONS:More than half of the pts with AAT deficiency are diagnosed above the age of 50. Individuals with at least one Z allele are diagnosed at younger age. ZZ patients that smoke are diagnosed at a younger age.
DISCLOSURE:Adriano Tonelli, Grant monies (from sources other than industry) Alpha1 Foundation; Grant monies (from industry related sources) Talecris Biotherapeutics; No Product/Research Disclosure Information