What was the cause of Alpha 1 Anti Trypsin Deficiency?
Alpha 1 Anti Trypsin Deficiency is an inherited disease due to mutation of SERPINA1 gene which causes less of the alpha-1 antitrypsin protein to be produced or active.
How is AATD diagnosed?
Diagnosis involves blood tests to establish the concentration of alpha-1 antitrypsin, screening of genetic mutations of SERPINA1, and lung volumes to establish respiratory impact.
What is the ICD-10 code for AATD?
The J96.1 (acute and chronic respiratory failure) is the most commonly used ICD-10 code to be applied in the respiratory issues related to AATD and help to ensure sufficient medical records and billing.
Can AATD affect the liver?
Yes. The resultant protein malforming alpha-1 antitrypsin may accumulate in the liver leading to inflammation, fibrosis, cirrhosis or liver failure in the long run.
When would I recommend a visit to a gastroenterologist in Houston?
You will desire to see a specialist in case of jaundice(yellowing of the skin or eyes), unexplainable abdominal swelling, liver pain, or abnormal liver functional tests.
Is AATD curable?
No cure of AATD exists but the cure of the disease involves protein augmentation therapy and lifestyle changes that slow-down the progression of the disease and control the symptoms.
How often would augmentation therapy be used?
The rigorous course of augmentation therapy is typically being carried out intravenously with the aid of an infusion either weekly or every two weeks based on the recommendations of your physician and the concentration of the amount of protein in your organism.
Can lifestyle modification be applied in the treatment of AATD?
Absolutely. In order to preserve the state of lungs and liver, one may quit smoking, avoid second-hand smoking and air pollutants, maintain normal weight, and exercise.
Should family members be tested on AATD?
Yes. AATD is a genetic disease and the genetic sizing and analysis of close relatives play an important role in identifying carriers or the disease among close relatives at tender age.
And where do I find one of the AATD professionals in Houston?
Book the Alpha 1 experts of GastroDoxs in Houston. We offer in-depth evaluation, genetic therapy and individualized treatment regimes.
Medically Reviewed by
Dr. Bharat Pothuri, MD, FACG
| Updated 03-17-2026