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Alpha 1 Anti Trypsin Deficiency

Cypress GastroDoxs is a team of specialists that provides total screening and individual care of the Alpha-1 AntiTtrypsin Deficiency and primarily depends on the latest diagnostic technology to care about the patients of the Cypress community and provide the professionalism of lung and liver health in a timely, caring, and dedicated manner.

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Texas Medical Board
Harris County Medical Society
American College of Gastroenterology
American Society for Gastrointestinal Endoscopy
Memorial hermann
Houston Methodist leading Medicine
HCA Houston Healthcare
Bharat Pothuri
Symptoms

What Is Alpha 1 Anti Trypsin Deficiency?

Alpha 1 Anti trypsin Deficiency (AATD) is a symptom inherited disorder and it is caused due to the insufficient production of the protective protein alpha-1 antitrypsin. The insufficient amount of this protein may cause destruction of lung tissue in the long run and non-functional protein proceeds to accumulate in the liver resulting to dysfunction of the organs.

Common Symptoms

The AATD symptoms are not so obvious, however, as the disease advances, you can observe:

  • Even on the light activity shortness of breath
  • Processional cough or recurring pneumonia
  • Weakness of muscles or energy
  • Liver stagnation leading to the yellowing (jaundice) of the skin or eyes
  • Abdominal swelling or pain

Causes

AATD is produced as a result of hereditary mutations of SERPINA1 gene. Key points include:

  • Defective SERPINA1 gene results in the synthesis of defective alpha-1 antitrypsin protein
  • The protein deposits on the liver cells in form of misfold make the liver cells susceptible to inflation or cirrhosis
  • Small amounts of the circulating protein lead to destruction of the lung tissue leading to the risk of emphysema
  • Two parents have to inherit a faulty type of a gene to become severely deficient
Treatment

Treatment Options for Alpha 1 Anti Trypsin Deficiency in Cypress

Treatment includes personalized care for lungs, liver, and overall support:

  • Inhalers / bronchodilators: Open up airways so that a shortness of breath is relieved
  • Oxygen therapy: It is directed towards improving the functioning of the lungs by supplying oxygen
  • Protein infusions (augmentation therapy): Adds to the lack of protein to cover the lung tissue
  • Periodic liver examinations: on a regular basis, liver blood tests and liver pictures made up of liver lobe enzymes and structure
  • Nutrition programs: Individual nutrition guidance to help in the healthy maintenance of liver functioning
  • Medications of liver symptoms: Drugs are used to deal with fluid retention, pain jaundice
  • Smoking Cessation: Smoking cessation process will reduce the harmfulness of the lungs and enhance the outcome
  • Light activity: Light exercises, that include the tightening of respiratory muscles and improving the endurance
  • Food habits: Proper, balanced food with plenty of fruits and vegetables, low protein and whole grains
  • Genetic screening of the family members: Profiling the family members at tender age to direct the view and control

Why Choose GastroDoxs in Cypress?

The specialists of our Alpha 1 Anti-Trypsin department at gastro dosx at Cypress will be specialized in offering personalized and holistic services to the health of the lungs and liver. We do it one step at a time, and you, as expedited genetic tests and definitive diagnosis, as an individual plan of treatment and support. Wait-book-your-appointment Not wait-book-your-appointment this day and experience the best that AATD has to offer you, with the professionals in mind, in the neighborhood of your home.

1.5K

Patients Treated

We've successfully 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

Alpha 1 Anti Trypsin Deficiency (AATD)?

Alpha 1 Anti Trypsin Deficiency is a genetic illness in which the body fails to produce enough of A1AT protein which ultimately leads to destruction of the lungs and liver.

What are the typical signs or symptoms of AATD?

The typical symptoms are the shortness of breath, coughing and wheezing, numerous chest infections, jaundice (yellowing of the skin or eyes), abdominal pain, or swelling and chronic fatigue.

How is AATD diagnosed?

Diagnosis is undertaken through blood tests in order to determine the concentration of the A1AT or a cheek swab to determine genetic mutation of SERPINA1 gene mutation.

Is AATD a precipitator of hepatic complication?

Yes. Lack of A1AT protein may accumulate into the liver and inflame the liver leading to fibrosis, cirrhosis or liver failure under no treatment.

What are the pulmonary complications that are correlated with AATD?

The typical AATD symptoms, including difficulties in breathing, recurrent infections and speedy lung destruction are likely to dominate among the AATD sufferers especially in the event the sufferers are smokers.

Does smoking affect AATD?

Yes. AATD results in the formation of lung damage at a faster and inferior rates and to a greater extent in smokers.

What do we know about AATD treatment?

They are treated through inhalers or bronchodilators, oxygen administration, and preservation of the lung (augmentation therapy) through A1AT protein infusion. Treatment may be administered to the liver through routine check ups, feeds and symptomatic drugs.

When is it necessary to have a specialist regarding the case of AATD?

To avoid serious complications, it is suggested that an AATD specialist visits them as soon as possible with an unexplainable result of lungs or liver, or abnormal A1AT test.

Is Life-style change an effective approach in AATD?

Absolutely. Quitting of smoking, eating well, moderate exercise and good health will slow disease and increase the lifespan.

What is the Cypress location of the AATD care?

GastroDoxs in Cypress provides AATD, rapid test and diagnosis, personal care of course and full support of the lung and liver health to the local professionals.

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