Alpha 1 Anti Trypsin Deficiency (AATD) is a genetic condition whereby your body produces a deficiency of the protein, alpha-1 antitrypsin (AAT). AAT has the task of ensuring that your lungs and liver are not inflamed and that your liver works well. At low levels of AAT, your lungs are exposed to damage and the misfolded protein may accumulate in your liver leading to an inflamed or scarred liver.
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:
Alpha 1 Antitrypsin Deficiency care has its place at GastroDoxs in Katy with a medical team of internationally recognized specialists in this condition whose main focus is genetic testing, x-rays, augmentation therapy as well as providing complete liver support. Wait not to save your lungs and your liver. Make appointment today and our professional team is going to show the way to new breathing and good 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.
Lack of protective protein and accumulation of toxicity in the liver puts you at risk of progressive lung damage (leading to COPD) and liver disease due to AATD.
Diagnosis involves blood tests to measure AAT levels, genetic testing to identify mutations in the SERPINA1 gene, and imaging (CT or X-ray) to assess the condition of the lungs and liver.
Yes. Reduced alpha-1 antitrypsin allows destructive enzymes to damage lung tissue, leading to COPD-like symptoms such as airflow obstruction and emphysema.
Liver manifestations can include jaundice (yellowing of the skin and eyes), abdominal pain or swelling, elevated liver enzymes, and eventually cirrhosis.
Yes. Genetic analysis identifies the SERPINA1 mutations and the specific AATD variant, helping guide treatment planning and family counseling.
CT scans and chest X-rays evaluate lung structure and emphysema progression, while abdominal ultrasound or MRI monitors liver size, fibrosis, or cirrhosis.
Services include augmentation therapy to replace missing AAT protein, inhalers or bronchodilators to relieve respiratory issues, and comprehensive liver management, including monitoring and transplant referral when necessary.
Absolutely. Smoking cessation, avoiding pollutants, maintaining a healthy diet, and pulmonary rehabilitation help preserve lung function and support liver health.
Consult a specialist if you experience unexplained shortness of breath, chronic cough, frequent lung infections, or liver dysfunction such as jaundice or abdominal swelling.
Appointments with our board-certified gastroenterologists and AATD care team can be scheduled by calling our office or visiting our website.
