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Alpha-1 Antitrypsin Deficiency (AAT Deficiency)

Alpha-1 antitrypsin deficiency, or AAT deficiency, is a condition that raises your risk for certain types of lung disease, especially if you smoke. NIH - National Heart, Lung, and Blood Institute

Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (an-tee-TRIP-sin) deficiency, or AAT deficiency, is a condition that raises your risk for lung disease (especially if you smoke) and other diseases.

Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma) - often when they're only in their forties or fifties. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe.

A small number of people who have AAT deficiency develop cirrhosis (sir-RO-sis) and other serious liver diseases.

Cirrhosis is a disease in which the liver becomes scarred. The scarring prevents the organ from working well. In people who have AAT deficiency, cirrhosis and other liver diseases usually occur in infancy and early childhood.

A very small number of people who have AAT deficiency have a rare skin disease called necrotizing panniculitis (pa-NIK-yu-LI-tis). This disease can cause painful lumps under... Read more about Alpha-1 Antitrypsin Deficiency

What works? Research summarized

Evidence reviews

Intravenous alpha‐1 antitrypsin augmentation therapy for treating patients with alpha‐1 antitrypsin deficiency and lung disease

Alpha‐1 antitrypsin deficiency is an inherited disorder that can cause lung disease. It affects about 1 in 1600 to 5000 people. Those with lung disease suffer from shortness of breath, reduced ability to exercise and wheezing. People who smoke are more seriously affected and have a greater risk of dying from the disease. We reviewed the benefits and harms of treating patients who have the form of the disease that affects the lungs with alpha‐1 antitrypsin extracted from human plasma. We found two randomised trials (total 140 patients) comparing this treatment with placebo for two to three years. All patients were ex‐smokers or had never smoked but had the genetic problem that carried a high risk of developing lung problems. Neither trial reported on the number of lung infections, hospital admissions or death from the disease. The studies found no difference between the two groups in quality of life or in number of exacerbations of the disease. The lung function deteriorated slightly less measured by CT scan, but slightly more measured by forced expiratory volume in one second. Therapy with alpha‐1 antitrypsin cannot be recommended, in view of the lack of evidence of clinical benefit and the high cost of treatment.

Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis

The authors concluded that augmentation therapy slowed lung function decline in patients with alpha1-antitrypsin deficiency, with patients with moderate obstruction (forced expiratory volume in one second of 30 to 65%) most likely to benefit. Much of the review was well-conducted, but reliance upon predominantly non-randomised studies of unknown quality made it difficult to confirm the reliability of these conclusions.

Chronic Obstructive Pulmonary Disease: Management of Chronic Obstructive Pulmonary Disease in Adults in Primary and Secondary Care [Internet]

This guideline offers best practice advice on the identification and care of patients with chronic obstructive pulmonary disease (COPD). It aims to define the symptoms, signs and investigations required to establish a diagnosis of COPD. It also aims to define the factors that are necessary to assess its severity, provide prognostic information and guide best management. It gives guidance on the pharmacological and non-pharmacological treatment of patients with stable COPD, and on the management of exacerbations. The interface with surgery and intensive therapy units (ITU) are also discussed.

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Summaries for consumers

Intravenous alpha‐1 antitrypsin augmentation therapy for treating patients with alpha‐1 antitrypsin deficiency and lung disease

Alpha‐1 antitrypsin deficiency is an inherited disorder that can cause lung disease. It affects about 1 in 1600 to 5000 people. Those with lung disease suffer from shortness of breath, reduced ability to exercise and wheezing. People who smoke are more seriously affected and have a greater risk of dying from the disease. We reviewed the benefits and harms of treating patients who have the form of the disease that affects the lungs with alpha‐1 antitrypsin extracted from human plasma. We found two randomised trials (total 140 patients) comparing this treatment with placebo for two to three years. All patients were ex‐smokers or had never smoked but had the genetic problem that carried a high risk of developing lung problems. Neither trial reported on the number of lung infections, hospital admissions or death from the disease. The studies found no difference between the two groups in quality of life or in number of exacerbations of the disease. The lung function deteriorated slightly less measured by CT scan, but slightly more measured by forced expiratory volume in one second. Therapy with alpha‐1 antitrypsin cannot be recommended, in view of the lack of evidence of clinical benefit and the high cost of treatment.

Terms to know

Cirrhosis
Scarring and permanent injury to the liver, usually the result of chronic, long term damage.
Genetic
Inherited; having to do with information that is passed from parents to offspring through genes in sperm and egg cells.
Liver
The largest abdominal organ. The liver carries out many important functions, such as making important blood proteins and bile, changing food into energy, and cleaning alcohol and poisons from the blood.
Lungs
One of a pair of organs in the chest that supplies the body with oxygen, and removes carbon dioxide from the body.
Pulmonary Emphysema (Emphysema of the Lung)
A chronic lung disease characterized by an abnormal increase in the size of the air spaces, resulting in labored breathing and caused by exposure to toxic chemicals.
Skin
The outer covering of the body that protects it from the environment.

More about Alpha-1 Antitrypsin Deficiency

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Also called: Alpha-1-antitrypsin deficiency, Alpha-1-proteinase inhibitor deficiency, A-1ATD, A1AD

Other terms to know: See all 6
Cirrhosis, Genetic, Liver

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