Alpha 1 Anti Trypsin Deficiency and Expert Treatment with Dr. Bharat Pothuri.
Step 1: Historical and physical examination.
The family and health history of the patient are discussed by Dr. Pothuri. He hears your lungs and searches your liver enlarging.
Step 2: Group Test of A1AT Levels.
Blood draw is performed to analyze A1AT (Alpha-1 Antitrypsin) level of protein.
Step 3: Genetic Testing
In case of low levels of A1AT, mutations in SERPINA1 gene are verified by the means of a DNA test.
Step 4: Lung Function Tests and Imaging.
The damage of lungs is evaluated by chest X-rays, CT-scans, and spirometry. Liver ultrasound/FibroScan is used to screen liver disease.
Frequently Asked Questions
How many years can you live with AATD?
It varies by individual. By the early diagnosis and smoking cessation combined with proper treatments, the long-term results may be greatly improved.
Does genetic test identify AATD in children or newborns?
Yes. Any form of genetic testing is able to recognize variants of AATD in people of any age, such as screening in newborn and testing in asymptomatic relatives.
Is there reversible liver damage related to AATD?
Light to moderate liver damage can be stabilized or cured through treatment and lifestyle modification. Severe cirrhosis can be transplantated.
Is there any clinical trial or novel treatment of AATD?
Yes. Some clinics and research centers in Houston are testing new types of augmentation therapies, gene editing, and also small-molecule drugs.
Is the augmentation therapy covered by Medicare?
The A1AT augmentation infusions have at least partial coverage under most Medicare and other private plans. Our billing department aids in checking of benefits.
What can I do in preparation of my initial visit?
With you: any previous testing (blood tests, radiographs) records, a list of your current drugs, and information about your family history of lung or liver disease.