Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency- This is a medical condition in which there is a deficiency of the protein Alpha-1 Antitrypsin, which is present in blood which may make an individual prone to many different diseases, especially of the lungs and liver. In this article, we will read in detail about the various causes, symptoms, and treatment of Alpha-1 Antitrypsin deficiency.

Alpha-1 Antitrypsin Deficiency

What Is Alpha-1 Antitrypsin Deficiency?

  • Alpha-1 Antitrypsin Deficiency is a hereditary medical condition.1
  • Genetic mutation causes accumulation of mutant Z protein in liver cells.2
  • The higher concentration of Z protein causes following diseases:
    • Liver hepatitis
    • Cirrhosis
    • Hepatocellular carcinoma
  • The disease advances and results in depressed levels of a protein called Alpha-1 Antitrypsin in the blood, which makes an individual prone to numerous diseases.
  • Some of the common pathological conditions due to Alpha-1 Antitrypsin Deficiency are as follows:
    • Chronic obstructive pulmonary disease3
    • Cirrhosis4
    • Hepatoma 4
    • Rare occasions a skin condition called panniculitis.
  • Individuals already diagnosed with Wegener's Granulomatosis usually tend to have Alpha-1 Antitrypsin Deficiency.
  • The deficiency of Alpha-1 Antitrypsin results in substances, which break down proteins to attack different tissues in the body resulting in harmful changes in lungs in the form of emphysema and also in the liver and skin.

Causes Of Alpha-1 Antitrypsin Deficiency

Alpha- 1 Antitrypsin Deficiency-

  • The protein Alpha-1 Antitrypsin is normally released by specialized granules in a type of white blood cell called neutrophils.
  • This is usually a response to an inflammatory or infectious condition.
  • A deficiency of Alpha-1 Antitrypsin protein causes quick breakdown of proteins, especially in the structures of the lungs, which over time leads to emphysema.
  • This condition is exacerbated by smoking, certain occupational exposures, etc.

Genetic Disorder2

  • Homozygous genetic mutation of a1AT gene (called ZZ or PIZZ), which occurs in 1 in 2,000-3,500 births.
  • The mutant Z gene directs the synthesis of large quantities of the mutant Z protein in the liver.

Symptoms Of Alpha-1 Antitrypsin Deficiency

Some of the Alpha-1 Antitrypsin Deficiency Symptoms Include:

  • Shortness of breath
  • Wheezing
  • Rhonchi
  • Rales

The symptoms may be similar to those caused by respiratory infections which do not respond to usual treatments. Alpha-1 Antitrypsin Deficiency may also cause cirrhosis and liver failure. Alpha-1 Antitrypsin Deficiency is a major cause for liver transplant in infants.

Diagnosis Of Alpha-1 Antitrypsin Deficiency

Unrecognized Disease-

  • Alpha-1 Antitrypsin Deficiency is often difficult to diagnose because of symptoms, which signifies respiratory or hepatic disease.3
  • Alpha-1 Antitrypsin Deficiency is in many cases misdiagnosed as COPD of unclear etiology.
  • Respiratory and hepatic disease as combined or isolated if not responding to established treatment then further investigation should be conducted to rule out Alpha-1 Antitrypsin Deficiency.
  • Fewer than 10% of the estimated 100,000 Americans suffering with Alpha-1 Antitrypsin deficiency have been diagnosed currently.5

Alpha-1 Antitrypsin Deficiency Evaluation-

  • The first test to be performed is a serum Alpha-1 Antitrypsin level, which if depressed will confirm diagnosis of Alpha-1 Antitrypsin Deficiency.2
  • Detailed investigation with Alpha-1 Antitrypsin protein phenotyping and genotyping should also follow to confirm the diagnosis.

Liver or Lung Biopsy6

  • Liver or lung biopsy study is performed if diagnosis could not be confirmed with blood examination.

Treatments for Alpha-1 Antitrypsin Deficiency

Specific Therapy-

Alpha-1 Antitrypsin Therapy

  • In USA, people suffering from lung disorders due to Alpha-1 Antitrypsin Deficiency are treated with intravenous Alpha-1 Antitrypsin.
  • Alpha-1 Antitrypsin is derived from donated human plasma.
  • This therapy is aimed to stop progress of the disease and prevent any further complications.
  • The outcome of the treatment is not convincingly beneficial. Research data yet do not support that this treatment cures the disease

Symptomatic Treatment-

  • Symptomatic Treatment-
    • Respiratory Infection
      • NSAIDs for inflammation
      • Antibiotics for infection
  • Fever
    • NSAID for fever- Tylenol
  • Lung Function (Emphysema)-
    • Bronchodilator- Ipratropium and ventolin inhaler
    • Corticosteroid- Prescribed to treat acute exacerbations with increased cough and sputum.
  • Dyspnea (Short Of Breath)-
    • Theophylline
    • Preventing respiratory infection.

Pulmonary Rehabilitation-

  • Exercise to improve function of muscles assisting respiration or breathing.
  • Chest physical therapy
  • Nasal oxygen therapy
  • Psychological support.


1. α(1)-antitrypsin deficiency and inflammation.

Ekeowa UI1, Marciniak SJ, Lomas DA.

Expert Rev Clin Immunol. 2011 Mar;7(2):243-52.

2. Advances in alpha-1-antitrypsin deficiency liver disease.

Teckman JH1, Jain A.

Curr Gastroenterol Rep. 2014 Jan;16(1):367.

3. Recent advances in α-1-antitrypsin deficiency-related lung disease.

Brebner JA1, Stockley RA.

Expert Rev Respir Med. 2013 Jun;7(3):213-29; quiz 230.

4. Diagnosis and management of patients with α1-antitrypsin (A1AT) deficiency.

Nelson DR1, Teckman J, Di Bisceglie AM, Brenner DA.

Clin Gastroenterol Hepatol. 2012 Jun;10(6):575-80.

5. The challenge of detecting alpha-1 antitrypsin deficiency.

Stoller JK1, Brantly M.

COPD. 2013 Mar;10 Suppl 1:26-34.

6. Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis.

Dickens JA1, Lomas DA.

Drug Des Devel Ther. 2011;5:391-405.

Written, Edited or Reviewed By:


Last Modified On: May 2, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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