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 Cypress, our Alpha 1 Anti-Trypsin specialists are committed to delivering personalized, comprehensive care for both lung and liver health. From rapid genetic testing and clear diagnosis to tailored treatment plans and ongoing support, we guide you every step of the way. Don't wait-book your appointment today and take control of your AATD journey with expert care close to home.
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.
Alpha 1 Anti Trypsin Deficiency is a genetic disorder in which the body doesn't produce enough A1AT protein, resulting in potential lung and liver damage over time.
Common symptoms include shortness of breath, coughing or wheezing, frequent chest infections, jaundice (yellowing of the skin or eyes), abdominal pain or swelling, and persistent fatigue.
Diagnosis is made through blood tests that measure A1AT levels or via a cheek swab for genetic analysis to identify mutations in the SERPINA1 gene.
Yes. Insufficient A1AT protein can accumulate in the liver, leading to liver inflammation, fibrosis, cirrhosis, or even liver failure if left untreated.
Individuals with AATD often experience chronic obstructive pulmonary disease (COPD) symptoms such as difficulty breathing, frequent infections, and accelerated lung decline-especially if they smoke.
Yes. Smoking significantly accelerates lung damage in people with AATD, leading to earlier onset and more severe respiratory problems.
Treatments include inhalers or bronchodilators, oxygen therapy, and augmentation therapy (A1AT protein infusions) for lung protection. Liver care may involve regular monitoring, nutritional support, and medications for symptoms.
Early evaluation by an AATD specialist is recommended if you have unexplained lung or liver symptoms, a family history of AATD, or an abnormal A1AT test result to prevent serious complications.
Absolutely. Quitting smoking, following a balanced diet, engaging in gentle exercise, and maintaining a healthy weight can all slow disease progression and improve quality of life.
GastroDoxs in Cypress offers local AATD specialists, quick testing and diagnosis, personalized care plans, and full support for both lung and liver health.
