Alpha-1 Antitrypsin Deficiency

May 15, 2019

Alpha-1 Antitrypsin Deficiency
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Alpha-1 Antitrypsin Deficiency is a congenital disease, which can cause serious liver or lung disease. It is also referred to as AAT deficiency. It has no cure but with treatment, breathing and liver problems can be managed.

Causes of Alpha 1-Antitrypsin Deficiency

AAT is congenital which means it is passed on to the future generation from one’s parents. Some people may have the genes but not the symptoms, or they could display a mild version of it. The broken genes you inherit from your parents might result in a low level of this protein deficiency in your blood.

Instead of entering your bloodstream, it can cause a build-up in your liver. By accumulating in your liver, liver disease sets in. When there is a deficiency of AAT protein in the bloodstream, lung disease results.

Symptoms of Alpha 1-Antitrypsin Deficiency

Patients of AAT usually show signs of having these conditions:

  • Emphysema
  • Hepatic failure
  • Hepatitis
  • An abnormally enlarged liver
  • Jaundice
  • Cirrhosis
  • Autosomal recessive inheritance
  • COPD

Normally, people do not know they have this disease until they are adults, usually between the ages of 20 years and 40. They usually feel breathless when exercising, could wheeze when breathing and have a lung infection. They could also exhibit these signs:

  • Fatigue
  • Fast heartbeats when standing
  • Weight loss
  • Jaundice
  • Swollen stomach or legs
  • Blood traces in cough


The doctor may ask questions regarding breathlessness, weight loss, jaundice, cold or a lung infection. He will check for signs of wheezing and proper lung functioning. The tests you will have to undergo include:

  • Blood tests
  • Chest X-ray
  • Liver biopsy

Alpha 1-Antitrypsin Deficiency Treatment

There’s no permanent cure for AAT deficiency, but there are ways by which you can increase the level of AAT protein in the blood, which will safeguard you against further lung damage. In medical terms, this is called augmentation therapy.

Augmentation therapy or replacement therapy consists of getting reinforcements of AAT protein that are drawn from the blood of healthy donors. This treatment is given once a week. It is syringed into the body and can be done either in the clinic or at home.

Through augmentation therapy, the damage to the lungs is stopped, though it cannot reverse or heal earlier damage. This treatment is lifelong.

Depending on the patient’s condition after treatment, the doctor will decide if he needs medication that the patient can breathe into his lungs using an inhaler or a bronchodilator.

Lifestyle Habits

  • Quit smoking, take a pneumonia vaccine and an annual flu shot.
  • Do exercises that strengthen the lungs
  • Eat nutritious food containing Vitamins E, D and K.
  • Keep away from pollutants like smoke and dust; wash your hands often so that you don’t catch an infection.
  • Reduce your alcohol intake
  • Babies with this deficiency should take a specially prepared milk formula containing extra vitamins.


Why Rela Hospital


A deficiency of AAT could set anyone back, considering it is congenital and there’s little you can do about it. Add to this the fact that children too can be caught in its web—this makes this condition all the more dangerous and pitiable too.

But that’s where things don’t come to an end. On the contrary, they begin for specialists like us at the Dr Rela Hospital, Chennai, India. Our 450-bedded hospital, set on a 36-acre area provides all the modern facilities of a hospital including state-of-the-art medical technology, internationally trained and experienced surgeons and related team members. Together, with their joint experience, they have built a dedicated Paediatric liver disease treatment hospital in Chennai in the Dr Rela Hospital.

This hospital is committed to treating patients of all kinds of liver disease and in all stages of the disease. This includes Alpha-1 Antitrypsin Deficiency Treatment, which affects infants and children too.

We are fortunate to have our hospital helmed by a world-renowned liver specialist in Prof. Dr. Mohamed Rela. Under his stewardship, our hospital has earned a huge name for itself and people now know Dr Rela as the Paediatric  liver transplant surgeon in India. Not surprising, as he uses innovative and modern surgical techniques for specific conditions and has saved the lives of many who have come here. It is these people who go back home calling our hospital the Best paediatric liver surgery hospital in Chennai.

To know more about us and how we work, call +91 9384681770 for an appointment.

Disclaimer: We recommend consulting a Doctor before taking any action based on the above shared information.



HPB Surgery & Liver Transplantation

HPB Surgery & Liver Transplantation

Liver Disease & Transplantation

Liver Disease & Transplantation

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