Definitions for alpha 1-antitrypsin deficiency
al·pha 1-an·tit·rypsin de·fi·cien·cy

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1. alpha 1-antitrypsin deficiency

   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.

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1. Alpha 1-antitrypsin deficiency

   Alpha 1-antitrypsin deficiency is a genetic disorder that causes defective production of alpha 1-antitrypsin, leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. There are several forms and degrees of deficiency, principally depending on whether the sufferer has one or two copies of the affected gene because it is a codominant trait. Severe A1AT deficiency causes panacinar emphysema or COPD in adult life in many people with the condition, as well as various liver diseases in a minority of children and adults, and occasionally more unusual problems. It is treated by avoidance of damaging inhalants, by intravenous infusions of the A1AT protein, by transplantation of the liver or lungs, and by a variety of other measures, but it usually produces some degree of disability and reduced life expectancy.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. alpha 1-Antitrypsin Deficiency

   Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN, leading primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. (From Scriver, Beaudet, Sly, & Valle, The Metabolic and Molecular Bases of Inherited Disease, 7th ed, p4125)

How to pronounce alpha 1-antitrypsin deficiency?

1. Alex

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   David

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   Mark

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   Daniel

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   Libby

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   Mia

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   Karen

   Australian

   Hayley

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   Natasha

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   Neerja

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   Oliver

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How to say alpha 1-antitrypsin deficiency in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of alpha 1-antitrypsin deficiency in Chaldean Numerology is: 8

2. Pythagorean Numerology

   The numerical value of alpha 1-antitrypsin deficiency in Pythagorean Numerology is: 7

Examples of alpha 1-antitrypsin deficiency in a Sentence

1. Marie Budev:

   Joyce Smith said. She had a second chance at life. She knew she had the second chance and she was lucky to have that. For much of her earlier life in Massachusetts, Mellady was hobbled by a mysterious lung condition. Then, in her late 30s, she tested positive foralpha-1 antitrypsin deficiency, a genetic disorder. The inherited condition predisposes people to lung conditions like chronic obstructive pulmonary disease and the emphysema Mellady developed before her transplant. The condition is caused by a lack of a protein in the blood called alpha-1 antitrypsin, which protects the lungs from inflammation. When Melladys lungs were replaced in 2007, doctors at theCleveland Clinicsaid they were among the worst they had ever seen, functioning at 15 percent of capacity. Over the next 13 years, Mellady served as an inspiration for other patients about to undergo similar transplants, a source of support for their relatives and a wealth of information for doctors studying her condition. She ended up living more than twice as long on her new lungs as the average 6.3 years for lung transplant patients. Dr. Marie Budev, the medical director of Cleveland Clinics lung and heart-lung transplant program, oversaw Melladys care and said Marie Budev was the first person from the program who died of COVID-19 and second to test positive. In this December 2016 photo provided by Joyce Smith, Joanne Mellady and Joyce Smith dog Oscar sled down the driveway of Joyce Smith home in Washington, N.H. Mellady, who received a double lung transplant in 2007, died of the coronavirus on March 30, 2020. Joyce Smith was 67. That scared Budev because transplant recipients are seen as particularly vulnerable to the virus because of the drugs they take that suppress their immune systems, making them more susceptible to infections. Five other people who have had lungs transplanted by the clinic have been infected by the virus and one more has has died. Marie Budev said Melladys death was devastating because she had become a testament to the possibilities of how to live life to the fullest after receiving an organ transplant. Marie Budev knew this was a lease on life that Marie Budev had gotten, Marie Budev said. Mellady participated in several research projects in Boston related to Marie Budev condition and was active in groups looking for a cure for alpha-1 antitrypsin deficiency and who supportedorgan donation. Marie Budev was just blooming with excitement to help others and help the field of medicine especially transplantation.

References

1. ^ Wikipedia
   https://en.wikipedia.org/wiki/Alpha_1-Antitrypsin_Deficiency
2. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=alpha 1-antitrypsin deficiency