Alpha 1 Anti Trypsin Deficiency (AATD) is a hereditary disorder in which the body makes too little of the protective protein alpha-1 antitrypsin. Without enough of this protein, lung tissue can be damaged over time and abnormal protein can accumulate in the liver, leading to organ dysfunction.
Early signs of AATD may be subtle, but as the disease progresses you might notice:
AATD is caused by inherited changes in the SERPINA1 gene. Key points include:
At GastroDoxs in Jersey Village, we specialize in comprehensive Alpha 1 Anti-Trypsin Deficiency care, combining advanced diagnostics, personalized treatment plans, and ongoing support for both lung and liver health. Our multidisciplinary team-gastroenterologists, pulmonologists, nurses, and dietitians-works together to deliver compassionate, evidence-based care tailored to your unique needs. From augmentation therapy and breathing support to nutritional guidance and lifestyle coaching, we're committed to helping you breathe easier, protect your liver, and maintain your best quality of life.
Ready to take the next step? Book your appointment today with GastroDoxs in Jersey Village and start your personalized AATD care plan.
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 is confirmed through blood tests that measure alpha-1 antitrypsin protein levels and genetic testing to detect mutations in the SERPINA1 gene.
Yes. Some individuals only exhibit liver-related issues-such as elevated liver enzymes or jaundice-without noticeable lung symptoms.
Treatment options include augmentation therapy (protein replacement), pulmonary rehabilitation, regular liver monitoring, and supportive care to manage complications.
While AATD can lead to serious lung and liver disease, early diagnosis and intervention help many patients maintain a good quality of life.
Yes. Smoking accelerates lung tissue damage in AATD, so quitting is one of the most important steps you can take to protect your lungs.
Adopt a balanced diet, avoid smoke and environmental pollutants, engage in gentle exercise, stay up to date on vaccinations, and follow your care plan.
Yes. Genetic screening is available for family members, including children, to identify AATD early and begin monitoring or treatment if needed.
No. While some patients develop liver disease (cirrhosis, fibrosis), others may experience only pulmonary issues or remain asymptomatic for years.
Specialist visits are typically recommended every 6-12 months, or more frequently if lung or liver assessments indicate progression.
Contact GastroDoxs in Jersey Village to schedule an appointment with a multidisciplinary team experienced in diagnosing and managing Alpha-1 Antitrypsin Deficiency.
