Abstract Rationale Alpha-1 Antitrypsin Deficiency (AATD) is a rare inherited condition that can lead to severe liver and/or lung disease. Previous research has shown a mean age of AATD diagnosis of approximately 45 years of age; however adult patients reportedly often have symptoms on average of 5-10 years before diagnosis. While much focus of AATD research targets older adult patients, there is a need to examine AATD patients before the age of 45, to characterize earlier aspects of disease. Methods The Alpha-1 Foundation Research Registry (A1F Registry) is a retrospective study that collects patient-reported data on pediatric and adult AATD patients in the United States. Housed within the Alpha-1 Foundation, this database includes questions pertaining to AATD-related health background and symptoms. We reviewed 759 AATD patients aged 18-44 years who reported details surrounding current health behaviors and medical history. Results Overall, adult patients in the A1F Registry aged 18-44 years reported a mean age of 35.0 years old (+/- 6.56), were predominantly female (76.1%), white (96.7%) and PiMZ, PiZZ, PiSZ, or Unknown genotype (34.0%, 26.7%, 13.2%, and 12.9%). While participants tested for AATD mainly due to family testing (40.8%), 34.7% tested due to either lung or liver symptoms (lung 22.4%, liver 12.3%). Participants reported an average age of overall AATD symptom onset of 23.1 years old and an average age of AATD diagnosis of 27.4 years. Liver disease diagnoses included NASH/fatty liver (21.4%) and cirrhosis (4.7%); while lung disease diagnoses included adult asthma (31.1%), COPD (12.4%), bronchiectasis (7.8%) and emphysema (7.8%). Participants also reported panniculitis (1.7%). Among participants aged 18-44, the average number of AATD related hospitalizations within the past 12 months was 1.16 overall, and 1.29 among those reporting a history of lung or liver symptoms. Current therapy usage revealed 8.9% on augmentation therapy and 5.0% requiring supplemental oxygen. Half of participants reported having received previous pulmonary screenings for PFT tests (52.0%), and/or abdominal CT, ultrasound or Fibroscan tests for the liver (52.7%). Participants largely reported to be current alcohol consumers (58.6%), and 17.1% current smokers. Conclusion Adult participants in the A1F Registry under the age of 45 were found to frequently exhibit symptoms associated with chronic liver and lung disease. Younger AATD patients can greatly benefit from continued monitoring to protect from AATD progression, as well as clinical conversations regarding behavioral changes for risk reduction. This abstract is funded by: None
Nuchovich et al. (Fri,) studied this question.