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Alpha 1 Anti Trypsin Deficiency
At GastroDoxs in Houston, Dr. Scott specializes in diagnosing and treating Alpha-1 Antitrypsin Deficiency, a genetic disorder that can harm your lungs and liver. With personalized care, advanced testing, tailored treatments, we help you breathe easier and protect your health.
Dr. Scott Liu, MD, is a board-certified gastroenterologist with over six years of experience and a background in military medicine. He earned his medical degree from the University of Maryland, Baltimore, completed his Internal Medicine residency at Naval Medical Center Portsmouth, and finished his Gastroenterology fellowship through the National Capital Consortium. Dr. Liu provides comprehensive care for a broad range of digestive conditions, including abdominal pain, acid reflux, liver disease, chronic diarrhea, and colon cancer screening. He is a member of the American College of Gastroenterology and is known for his disciplined, patient-focused approach and clear communication.
What Is Alpha 1 Antitrypsin Deficiency?
Alpha 1 antitrypsin deficiency (A1AT) is a genetic disorder affecting a protein made by the liver that protects your lungs and liver from damage. When you don't make enough A1AT, you're at risk of developing lung disease or liver problems.
Common Causes and Risk Factors
Inheritance of one faulty A1AT gene from each parent
Family history of A1AT deficiency
Smoking, which accelerates lung damage
Exposure to dust, fumes or Houston's air pollution
Signs and Symptoms
Shortness of breath or wheezing
Frequent cough or repeated lung infections
Pain or swelling in the liver
Tiredness and low energy
Yellowing of the skin or eyes (jaundice)
How Dr. Scott Diagnoses This Condition?
Dr. Scott uses a step-by-step approach:
Medical History and Exam
He reviews your alcohol intake and asks you to describe your epigastric pain-its onset, location, intensity, and any factors that worsen or relieve it. He also assesses for jaundice, abdominal swelling, and other physical signs of liver injury.
Blood Tests
We check liver enzymes (AST, ALT), bilirubin, albumin, and platelet count to gauge liver function and inflammation. Additional labs may include a complete blood count and coagulation profile.
Imaging Studies
Abdominal Ultrasound - evaluates liver size, texture, fatty infiltration, and detects fluid in the abdomen (ascites).
FibroScan (Transient Elastography) - measures liver stiffness to identify fibrosis or cirrhosis.
Advanced Testing (if needed)
When non-invasive tests are inconclusive, a liver biopsy can confirm the degree of inflammation, fibrosis, or cirrhosis and help guide treatment decisions.
Treatment
Our Team offers a full range of care for Alpha 1 antitrypsin deficiency.
1. Lifestyle and Diet Modifications
Smoking cessation support tailored to A1AT patients
Nutrition guidance to support lung and liver health
Advice on avoiding air irritants and using protective masks
Customized exercise plans to boost respiratory function
2. Medications
A1AT protein replacement therapy to restore protective levels
Macrolide antibiotics to reduce lung inflammation
Anti-inflammatory medicines for improved breathing relief
3. Minimally Invasive or Advanced Procedures
Bronchoscopy to evaluate and monitor airways
Lung volume reduction procedures for severe emphysema
Liver transplant evaluation for advanced liver disease
Dr. Scott Liu, MD, is a board-certified gastroenterologist with over six years of experience and a background in military medicine. He earned his medical degree from the University of Maryland, Baltimore, completed his Internal Medicine residency at Naval Medical Center Portsmouth, and finished his Gastroenterology fellowship through the National Capital Consortium. Dr. Liu provides comprehensive care for a broad range of digestive conditions, including abdominal pain, acid reflux, liver disease, chronic diarrhea, and colon cancer screening. He is a member of the American College of Gastroenterology and is known for his disciplined, patient-focused approach and clear communication.
Frequently Asked Questions
What causes alpha 1 antitrypsin deficiency?
A1AT deficiency is a hereditary condition. You inherit one abnormal SERPINA1 gene from each parent, leading to low alpha-1 antitrypsin levels.
How is A1AT deficiency diagnosed?
Diagnosis involves measuring A1AT protein in your blood, genetic testing to confirm gene variants, breathing tests (spirometry), and imaging or biopsy if needed.
Can lifestyle changes help slow disease progression?
Yes. Quitting smoking, avoiding environmental irritants, eating a balanced diet, and staying active all support lung and liver health.
Is alpha 1 antitrypsin deficiency contagious?
No. A1AT deficiency is not infectious-it's a genetic disorder passed down through families.
What treatment options are available?
Treatments include A1AT protein replacement therapy, macrolide antibiotics to reduce lung inflammation, and other anti-inflammatory medications; advanced procedures are available for severe cases.
Will I need a liver transplant?
A liver transplant is reserved for patients with advanced liver disease who do not respond to medical or minimally invasive treatments; Dr. Scott will evaluate your individual needs.
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