Alpha 1 Anti Trypsin Deficiency (AATD) is an inherited disorder caused by a mutation in the SERPINA1 gene. It results in low levels of the alpha-1 antitrypsin protein, which normally protects your lungs from damage and prevents abnormal protein buildup in your liver.
Symptoms often don't appear until adulthood. When they do, you may notice:
AATD is a genetic condition that can be influenced by lifestyle and environmental factors:
At GastroDoxs in Houston, we combine expert diagnostics, personalized treatment plans, and compassionate support to manage your AATD effectively. From genetic counseling and protein augmentation therapy to ongoing lung and liver monitoring, our dedicated specialists are here to guide you every step of the way. Don't wait, book your appointment today and partner with Houston's trusted AATD care team for long-term health and peace of mind.
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 caused by a hereditary mutation in the SERPINA1 gene, which leads to decreased production or function of the alpha-1 antitrypsin protein.
Diagnosis involves blood tests to measure alpha-1 antitrypsin levels, genetic screening for SERPINA1 mutations, and lung function tests to assess respiratory impact.
The most commonly used ICD-10 code for AATD-related respiratory issues is J96.1 (acute and chronic respiratory failure), which helps ensure accurate medical records and billing.
Yes. Misfolded alpha-1 antitrypsin protein can accumulate in the liver, leading to inflammation, fibrosis, cirrhosis, or even liver failure over time.
You should schedule a consultation if you experience jaundice (yellowing of the skin or eyes), unexplained abdominal swelling, liver pain, or abnormal liver function tests.
There is currently no cure for AATD, but treatments such as protein augmentation therapy and lifestyle modifications can slow disease progression and manage symptoms.
Augmentation therapy is typically administered via intravenous infusion once a week or every two weeks, depending on your doctor's recommendations and your protein levels.
Absolutely. Quitting smoking, avoiding secondhand smoke and air pollutants, maintaining a healthy weight, and exercising regularly can help protect lung and liver health.
Yes. Since AATD is inherited, genetic counseling and testing for close relatives are important to identify carriers or affected individuals early.
Contact GastroDoxs to book an appointment with our experienced Alpha 1 specialists in Houston. We offer comprehensive evaluation, genetic counseling, and personalized care plans.
