A Description Of The SS Alpha-1 Antitrypsin Deficiency Phenotype

Title: A Description Of The SS Alpha-1 Antitrypsin Deficiency Phenotype
Author(s): D Fraughen, M Herron, T Carroll, G Kelly, C Gunaratnam, G McElvaney
Institution: Irish Centre for Genetic Lung Disease, RCSI Education and Research Centre, Beaumont Hospital
Poster: Click to view poster
Category: COPD/Asthma
Abstract: Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder that can cause lung, liver and skin disease. Guidelines advocate screening all people with airflow obstruction, cryptogenic liver disease, difficult-to-control asthma and first-degree relatives of those affected. The most common deficiency-causing mutation in Ireland is the S mutation (Glu264Val, rs17580), with 1 in 10 Irish individuals affected. This is one of the highest allele frequencies in Europe. The S mutation causes a mild plasma deficiency and S heterozygotes (MS phenotype) are not at risk of disease. However, the clinical characteristics of individuals homozygous for S (SS phenotype) are not well described (1).

We evaluated the characteristics of a cohort of individuals diagnosed with the SS phenotype attending the national centre of expertise for AATD at Beaumont Hospital.

43 individuals with the SS genotype were included in our analysis. Baseline demographics, PFT results and co-morbidities were recorded for each person.

Our study demonstrated that the prevalence of lung and liver disease is high in individuals with the SS phenotype referred to our clinic. Our data suggests that increased vigilance may be required in the management of the SS phenotype.