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Alpha 1 Anti Trypsin Deficiency
Alpha 1 antitrypsin deficiency is a genetic condition that compromises lung and liver function. At GastroDoxs in Houston, Dr. Nghia Nguyen provides expert diagnostics, personalized treatments, and support. Discover how early detection and tailored care can enhance health and longevity.
Dr. Nghia Nguyen, DO, is a board-certified gastroenterologist providing advanced digestive care in the Greater Houston area. He earned his medical degree from the Texas College of Osteopathic Medicine and completed both his Internal Medicine residency and Gastroenterology fellowship at the University of Texas at Rio Grande Valley. Dr. Nguyen specializes in treating conditions such as acid reflux, irritable bowel syndrome (IBS), inflammatory bowel disease (IBD), and liver disorders.
Common Causes and Risk Factors
Genetic inheritance of two abnormal AAT genes (one from each parent)
Family history of alpha-1 antitrypsin deficiency
Cigarette smoking, which accelerates lung damage
Occupational or environmental exposure to lung irritants (dust, chemicals)
Age - symptoms most often begin between ages 20 and 50
Signs and Symptoms
Shortness of breath, even with mild activity
Chronic cough, often productive of mucus
Wheezing or a persistent “whistling” sound when breathing
Fatigue or reduced exercise tolerance
Jaundice (yellowing of the skin or eyes) indicating possible liver involvement
Abdominal swelling or discomfort due to liver enlargement
How Dr. Nghia Nguyen Diagnoses Alpha 1 Anti-Trypsin Deficiency?
Dr. Nguyen uses a step-by-step approach:
Medical History
He reviews your respiratory and liver‐related symptoms, family history of AAT deficiency, smoking history, and other risk factors.
Blood Tests
We measure your circulating AAT protein level and perform genotype analysis to identify the specific SERPINA1 mutations.
Lung Function Tests
Spirometry and full pulmonary function testing assess airflow obstruction and gas exchange efficiency.
Imaging Studies
Chest CT scan evaluates emphysematous changes and the pattern of lung damage.
Abdominal ultrasound or CT scan screens for liver fibrosis, steatosis, or cirrhosis.
Advanced Testing (if needed)
In select cases, a liver biopsy or elastography may be performed to quantify liver inflammation and fibrosis.
Treatment
Our Team offers a full range of care for alpha 1 anti-trypsin deficiency.
1. Lifestyle and Diet Changes
Stop smoking to protect your lungs
Eat a healthy diet - lean protein, fruits, vegetables, and whole grains
Exercise regularly - light activities such as walking or swimming
Stay up to date on vaccines - flu and pneumonia shots
2. Medications
Augmentation therapy to replace AAT protein and slow lung damage
Bronchodilators to open airways and ease breathing
Liver support medications, if liver function is affected
3. Minimally Invasive or Advanced Procedures
Bronchoscopy for airway evaluation and treatment guidance
Lung volume reduction in select cases to remove damaged tissue
Liver transplant evaluation in collaboration with Houston transplant teams
Dr. Nghia Nguyen, DO, is a board-certified gastroenterologist providing advanced digestive care in the Greater Houston area. He earned his medical degree from the Texas College of Osteopathic Medicine and completed both his Internal Medicine residency and Gastroenterology fellowship at the University of Texas at Rio Grande Valley. Dr. Nguyen specializes in treating conditions such as acid reflux, irritable bowel syndrome (IBS), inflammatory bowel disease (IBD), and liver disorders.
Frequently Asked Questions
What is alpha 1 anti-trypsin deficiency?
Alpha 1 anti-trypsin deficiency is a genetic disorder that causes low levels of the AAT protein, which normally protects your lungs and liver from damage.
What are the common symptoms?
Patients often experience shortness of breath, chronic cough with mucus, wheezing, fatigue, and in some cases jaundice or abdominal swelling when the liver is involved.
What causes this condition?
You inherit two faulty copies of the AAT gene—one from each parent—which leads to reduced or dysfunctional AAT protein in your bloodstream.
How is it diagnosed?
Diagnosis involves blood tests to measure AAT levels and check genetic variants, lung function tests to assess breathing capacity, and imaging (CT scan or ultrasound) to evaluate organ damage.
What treatment options are available?
Treatment may include augmentation therapy (infusions of AAT protein), bronchodilators to open airways, liver support medications, lifestyle modifications, and in select cases minimally invasive procedures or transplant evaluation.
Can lifestyle changes help manage the disease?
Yes. Quitting smoking, following a balanced diet, staying active, and keeping up with vaccinations (flu, pneumonia) can slow disease progression and reduce complications.
Is there a cure for AAT deficiency?
While there is no cure yet, early diagnosis and a personalized care plan from Dr. Nguyen can help you manage symptoms, protect your lungs and liver, and improve quality of life.
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