Cross Sectional Analysis of Patients with Alpha-1 Antitrypsin Deficiency Enrolled in a Disease Management and Prevention Program

Background: Alpha-1 antitrypsin deficiency is a heritable genetic condition that is largely underdiagnosed and has been estimated to affect 1 out of every 5,000-7,000 people in North America. The condition is characterized by a decrease in the production or activity of the alpha-1 antitrypsin protein, increasing risk for chronic lung or liver inflammation, that may lead to disease. Currently, there is no cure for the condition and augmentation therapy, which replaces the lost protein, has shown mixed results, meaning preventive measures taken by the patient are a large component of the prescribed treatment. Thus, patients with the condition are strongly encouraged to quit smoking, reduce drinking, avoid occupations or areas that have high levels of particulate matter or toxic air pollutants as well as maintain active vaccinations against lung and liver infections like pneumonia, hepatitis A and B, and the flu to prevent complications from the condition. Objectives: This study aims to 1) Access the associations between adherence to the AlphaNet disease management and prevention program and the prophylactic measures that are encouraged by the program and; 2) determine if any of these associations are a result of demographic and health differences between individuals who are adherent ADMAPP and those who are not. Methods: This is a cross-sectional study of 3,526 individuals with alpha-1 antitrypsin deficiency who answered a questionnaire administered by AlphaNet from May 29th 2008 to February 14th 2015 as part of the Alpha-1 Antitrypsin Management and Prevention Program. This study focused on questions related to adherence to the program and prophylactic measures taken by the individual that are encouraged by the literature given out by the program. Only individuals who 3 answered questions about their adherence to the program were included in this current study. Demographic differences between the two stratified populations and an index for comorbidities were used for logistic regression analysis. Results: After adjustment for sex, age, income, and comorbidies, compared with individuals who self-reported as being non-adherent to the disease management and prevention program, adherent individuals were more likely to be comfortable with their knowledge of the disease (ORadj=4.95, 95% CI: 3.24-7.57), have read any part of the literature provided by the program (ORadj=6.44, 95% CI: 5.45-7.62), and use augmentation therapy (ORadj=2.08, 95% CI: 1.53-2.82). These individuals were also more likely to be vaccinated for the flu (ORadj=1.34, 95% CI: 1.08-1.68), Hepatitis A (ORadj=1.41, 95% CI: 1.20-1.66), and Hepatitis B (ORadj=1.62, 95% CI: 1.37-1.91), as well as exercise (ORadj=2.07, 95% CI: 1.74-2.47), while being less likely to be active smokers (ORadj=0.47, CI: 0.31-0.70). Conclusions: This study suggests that AlphaNet program may be a useful tool for informing and improving preventive measures taken by individuals with alpha-1 antitrypsin deficiency. Individuals who self-reported their percent adherence to the program as being nonzero were more likely to be informed about their condition and taking preventive measures, such as smoking cessation, getting vaccinated for conditions that could magnify the effects of AATD, and increases in self-reported exercise. Future studies are needed to show causality and improvement in participant outcomes such as mortality and quality of life