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Alpha 1 Anti Trypsin Deficiency

Alpha 1 Antitrypsin Deficiency (AATD) is an inherited disorder impairing protective A1AT protein production, causing progressive lung and liver damage. GastroDoxs Houston's Dr. Bharat Pothuri provides comprehensive evidence based diagnostics, personalized treatments and advanced therapies tailored to each patient's needs.

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Bharat Pothuri

About the Expert

Dr. Bharat Pothuri is a board-certified gastroenterologist and the founder of GastroDoxs. 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.

Common Causes and Risk Factors

  • Inherited mutations in the SERPINA1 gene
  • Family history of lung or liver disease
  • Cigarette smoking, which accelerates lung damage
  • Age (symptoms often begin between 30 and 50 years)
  • Northern European ancestry (higher carrier rates)

Signs and Symptoms

  • Often minimal or absent in early stages
  • Shortness of breath or wheezing, especially with exertion
  • Chronic cough or frequent respiratory infections
  • Persistent fatigue or reduced exercise tolerance
  • Yellowing of the skin or eyes (jaundice)
  • Swelling of the legs or abdomen in advanced liver disease

Expert Treatment for Alpha 1 Anti Trypsin Deficiency by Dr. Bharat Pothuri

Step 1: Medical History and Exam

Dr. Pothuri reviews your family and health history. He listens to your lungs and checks for liver enlargement.

Step 2: Blood Test for A1AT Levels

A simple blood draw is done to measure A1AT (Alpha-1 Antitrypsin) protein levels.

Step 3: Genetic Testing

If low A1AT levels are detected, a DNA test confirms mutations in the SERPINA1 gene.

Step 4: Imaging and Lung Function Tests

Chest X-rays, CT scans, and spirometry assess lung damage. Liver ultrasound or FibroScan helps check for liver disease.

Dr. Bharat Pothuri
Treatment

Our Team offers a full range of care for Alpha 1 Antitrypsin Deficiency.

1. Lifestyle and Diet Tips

  • Quit smoking - slows progression of lung damage
  • Balanced diet rich in fruits, vegetables, and lean protein
  • Regular exercise program to maintain strength and lung function
  • Up-to-date flu and pneumonia vaccinations to prevent infections

2. Medications

  • Augmentation therapy - IV infusions of A1AT protein to boost levels
  • Inhalers and corticosteroids - ease breathing and reduce inflammation
  • Liver support medications - manage symptoms if liver is affected

3. Minimally Invasive and Advanced Procedures

  • Endoscopic lung volume reduction - removes damaged lung tissue
  • Bronchoscopic valve placement - redirects airflow to healthier lung areas
  • Liver transplant - for patients with end-stage liver disease
1.5K

Patients Treated

Dr. Pothuri has treated more than 1.5K patients, helping individuals improve their digestive health and overall well-being through expert, personalized care.

20Y

Years of Experience

With over 20 years of experience, GastroDoxs has been a trusted provider of gastroenterology care, focusing on delivering the best outcomes for patients

Bharat Pothuri

About the Author

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.

Frequently Asked Questions

What is the life expectancy with AATD?

It varies by individual. Early diagnosis, quitting smoking, and appropriate treatments can significantly improve long-term outcomes.

Can genetic testing detect AATD in children or newborns?

Yes. Genetic testing can identify AATD variants at any age, including newborn screening and testing in asymptomatic family members.

Can liver damage from AATD be reversed?

Mild to moderate liver injury may stabilize or improve with treatment and lifestyle changes. Advanced cirrhosis may require transplantation.

Are there clinical trials or new treatments for AATD?

Yes. Several Houston clinics and research centers are evaluating novel augmentation therapies, gene editing, and small-molecule drugs.

Will Medicare cover augmentation therapy?

Most Medicare and private plans provide at least partial coverage for A1AT augmentation infusions. Our billing team assists with benefit verification.

How should I prepare for my first visit?

Bring any prior test results (blood work, imaging), a current medication list, and details of your family history of lung or liver disease.

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