Alpha 1 Anti Trypsin Deficiency (AATD) is a hereditary disorder in which your body makes too little of the protein alpha-1 antitrypsin (AAT). AAT's job is to protect your lungs from inflammation and to keep your liver functioning properly. When AAT levels are low, your lungs become vulnerable to damage and the misfolded protein can build up in your liver, causing inflammation or scarring.
Symptoms of AATD may appear in childhood, adolescence, or adulthood. Early on, you might not notice anything, but as the condition progresses, you can experience:
AATD arises from inherited genetic mutations that affect the production of alpha-1 antitrypsin. Key factors include:
At GastroDoxs in Katy, our board-certified specialists are dedicated to Alpha 1 Antitrypsin Deficiency care-offering comprehensive genetic testing, advanced imaging, augmentation therapy, and full liver support. Don't wait to protect your lungs and liver. Book your appointment today and let our expert team guide you toward better breathing and long-term health.
We've successfully treated more than 1.5K patients, helping individuals improve their digestive health and overall well-being through expert, personalized care.
With over 20 years of experience, GastroDoxs has been a trusted provider of gastroenterology care, focusing on delivering the best outcomes for patients
Dr. Bharat Pothuri is a Board-Certified Gastroenterologist and Hepatologist. With extensive experience in digestive health, he specializes in advanced endoscopic procedures, chronic GI disorder management, and preventive care. Dr. Pothuri is dedicated to providing expert, patient-focused insights to help improve gut health and overall well-being.
AATD increases your risk of progressive lung damage (leading to COPD) and liver disease due to insufficient protective protein and toxic buildup in the liver.
Diagnosis involves blood tests to measure AAT levels, genetic testing to identify SERPINA1 mutations, and imaging (CT or X-ray) to assess lung and liver health.
Yes. Low alpha-1 antitrypsin allows destructive enzymes to injure lung tissue, often resulting in COPD-like symptoms such as airflow limitation and emphysema.
Common liver manifestations include jaundice (yellowing of skin/eyes), abdominal pain or swelling, elevated liver enzymes, and, in severe cases, cirrhosis.
Yes. Genetic testing confirms the presence of SERPINA1 gene mutations, identifies your specific AATD variant, and guides treatment and family counseling.
CT scans and chest X-rays evaluate lung structure and emphysema progression, while abdominal ultrasound or MRI may monitor liver size, fibrosis, or cirrhosis.
We offer augmentation therapy to replace missing AAT protein, inhalers or bronchodilators for respiratory relief, and comprehensive liver care including monitoring and transplant referrals if needed.
Absolutely. Quitting smoking, avoiding pollutants, maintaining a balanced diet, and participating in pulmonary rehabilitation all help preserve lung function and support liver health.
You should consult a specialist if you experience unexplained shortness of breath, chronic cough, frequent lung infections, or signs of liver dysfunction such as jaundice or abdominal swelling.
Call our office directly or visit our website to schedule an appointment with our board-certified gastroenterologist and AATD care team.
