Alpha-1 Antitrypsin Deficiency (AATD)

An Alpha-1 Antitrypsin Deficiency (AATD) is a genetic disorder that is a hereditary and a metabolic disease which decrease the production of A1AT and may cause in lung disease or liver disease.

• AKA: Alpha-1 Antitrypsin (A1AT) Deficiency.
• Context:
  • It leads to an Alpha-1 Antitrypsin decreased activity in the blood and lungs as well as the deposition of excessive abnormal A1AT protein in liver cells.
• Example(s):
  • …
• Counter-Example(s):
  • SERPINA1.
• See: Glycoprotein, Hepatocyte, Chronic Liver Disorders, Chronic Obstructive Pulmonary Disease (COPD), Cirrhosis, Fibrosis, Respiratory Disorder, Emphysema, Bronchiectasis), Panniculitis, Vasculitis, Protein Electrophoresis, Pulmonology, Medical Genetics, Genetic Disorder, Protein, Liver, Lung Allele, Recessive.

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References

2021a

• (Wikipedia, 2021) ⇒ https://en.wikipedia.org/wiki/Alpha-1_antitrypsin_deficiency Retrieved:2021-12-15.
  • Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. Onset of lung problems is typically between 20 and 50 years of age. This may result in shortness of breath, wheezing, or an increased risk of lung infections. Complications may include chronic obstructive pulmonary disease (COPD), cirrhosis, neonatal jaundice, or panniculitis.

    A1AD is due to a mutation in the SERPINA1 gene that results in not enough alpha-1 antitrypsin (A1AT). Risk factors for lung disease include tobacco smoking and environmental dust. The underlying mechanism involves unblocked neutrophil elastase and buildup of abnormal A1AT in the liver. It is autosomal co-dominant, meaning that one defective allele tends to result in milder disease than two defective alleles. The diagnosis is suspected based on symptoms and confirmed by blood tests or genetic tests.

    Treatment of lung disease may include bronchodilators, inhaled steroids, and, when infections occur, antibiotics. Intravenous infusions of the A1AT protein or in severe disease lung transplantation may also be recommended. In those with severe liver disease liver transplantation may be an option. Avoiding smoking is recommended. Vaccination for influenza, pneumococcus, and hepatitis is also recommended. Life expectancy among those who smoke is 50 years while among those who do not smoke it is almost normal. The condition affects about 1 in 2,500 people of European descent. Severe deficiency occurs in about 1 in 5,000. In Asians it is uncommon. About 3% of people with COPD are believed to have the condition. Alpha-1 antitrypsin deficiency was first described in the 1960s.

2021b

• (Orphanet, 2021) ⇒ https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=60 Retrieved:2021-12-15.
  • QUOTE: A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.

2021c

• (MedlinePlus, 2021) ⇒ https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/ Retrieved:2021-12-15.
  • QUOTE: Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.

    People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 25 and 50(...)

2021d

• (NIH, 2021) ⇒ https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency Retrieved:2021-12-15.
  • QUOTE: Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that causes an increased risk of having chronic obstructive pulmonary disease (COPD), liver disease, skin problems (panniculitis), and inflammation of the blood vessels (vasculitis). Lung (pulmonary) problems almost always occur in adults, whereas liver and skin problems may occur in adults and children.[ The age symptoms begin and severity of symptoms can vary depending on how much working alpha-1 antitrypsin protein (AAT) a person has. Symptoms may include shortness of breath and wheezing, repeated infections of the lungs and liver, yellow skin, feeling overly tired (fatigue), rapid heartbeat when standing, vision problems, and weight loss. However, some people with AATD do not have any problems(...)

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2021

• (Wikipedia, 2021) ⇒ https://en.wikipedia.org/wiki/Alpha-1_antitrypsin_deficiency Retrieved:2021-12-15.
  • Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. Onset of lung problems is typically between 20 and 50 years of age. This may result in shortness of breath, wheezing, or an increased risk of lung infections. Complications may include chronic obstructive pulmonary disease (COPD), cirrhosis, neonatal jaundice, or panniculitis.

    A1AD is due to a mutation in the SERPINA1 gene that results in not enough alpha-1 antitrypsin (A1AT). Risk factors for lung disease include tobacco smoking and environmental dust. The underlying mechanism involves unblocked neutrophil elastase and buildup of abnormal A1AT in the liver. It is autosomal co-dominant, meaning that one defective allele tends to result in milder disease than two defective alleles. The diagnosis is suspected based on symptoms and confirmed by blood tests or genetic tests.

    Treatment of lung disease may include bronchodilators, inhaled steroids, and, when infections occur, antibiotics. Intravenous infusions of the A1AT protein or in severe disease lung transplantation may also be recommended. In those with severe liver disease liver transplantation may be an option. Avoiding smoking is recommended. Vaccination for influenza, pneumococcus, and hepatitis is also recommended. Life expectancy among those who smoke is 50 years while among those who do not smoke it is almost normal. The condition affects about 1 in 2,500 people of European descent. Severe deficiency occurs in about 1 in 5,000. In Asians it is uncommon. About 3% of people with COPD are believed to have the condition. Alpha-1 antitrypsin deficiency was first described in the 1960s.