Alpha 1-antitrypsin deficiency: Description, Causes and Risk FactorsAbbreviation: A1ATD.1-antitrypsin deficiency.Alpha 1-antitrypsin is a glycoprotein produced by the liver. Its primary function is to protect the lungs from neutrophil elastase, which is an enzyme that digests the phagocyte cells and bacteria to promote healing.Alpha 1-antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin (AAT) in the blood. A1ATD occurs in approximately 1 in 2,500 individuals. This condition is found in all ethnic groups; however, it occurs most often in whites of European ancestry.Alpha 1-antitrypsin deficiency is one of the most common genetic disorders, found throughout the world but more common in some countries than others. The inheritance pattern is slightly more complex than previously understood. In each of our cells we have two copies of the gene that controls A1AT (Alpha-1 antitrypsin) production. In order to be affected by Alpha-1 antitrypsin deficiency deficiency, a person must inherit a faulty gene from one or both of their parents. This is called an autosomal co-dominant inherited condition. If you inherit two faulty genes you have a 90% chance of abnormal levels of Alpha-1 antitrypsin deficiency. If you inherit one faulty gene you are still at risk of lung and liver damage with 40% of these people having abnormal A1AT levels.Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha 1-antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin.Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha 1-antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. Without enough functional alpha-1 antitrypsin, neutrophil elastase destroys alveoli and causes lung disease. Abnormal alpha-1 antitrypsin can also accumulate in the liver and damage this organ.Although, there are various alleles of the gene and several phenotypes, the phenotypes associated with emphysema are PiSZ, PiZZ and PiNull. The Null gene is one that produces no detectable level of alpha -1 antitrypsin. Patients with Null-Null phenotype are at increased risk for developing emphysema, yet do not suffer liver damage greatly.Symptoms:Symptoms alpha 1-antitrypsin deficiency may include the following:Symptoms of severe liver disease (cirrhosis).
Shortness of breath with and without exertion, and other symptoms of chronic obstructive pulmonary disease (COPD).
Unintentional weight loss.
Diagnosis alpha 1-antitrypsin deficiency:Most patients with alpha 1-antitrypsin deficiency have shortness of breath, chronic cough and abnormal liver function tests. Based on above findings, if there is suspicion of alpha-1-antitrypsin deficiency, then its presence can be detected by serum protein electrophoresis. Since alpha-1 antitrypsin is the predominant glycoprotein responsible for the a1 globulin band on routine protein electrophoresis, that band is absent in its deficiency. Serum protein electrophoresis is also recommended in relatives of a patient with diagnosed alpha-1 antitrypsin deficiency or if there is a family history of early emphysema especially in non-smokers.The protease inhibitor (Pi) phenotyping system classifies the variants by letters in the alphabet. The slowest moving glycoprotein is labeled PiZ, while faster moving protein complexes can be identified by earlier letters in the alphabet. Patients with alpha-l-antitrypsin levels of 11um/L or less are at increased risk of emphysema.The following tests may also help in diagnosis:Alpha 1-antitrypsin blood test.
Arterial blood gases.
Graded exercise test
CT scan of the chest.
Lung function test.
Treatment of Alpha 1-antitrypsin deficiency:There is no cure for Alpha-1 antitrypsin deficiency, but there are ways to prevent or reduce health problems related to Alpha-1. People with alpha 1-antitrypsin deficiency should do the following important things:Get hepatitis A and B vaccinations.
Get regular physical exams by a doctor.
Get regular medical tests as suggested by their doctors, such as blood tests and liver ultrasound exams or other X-ray tests (for example, liver CT scans).
Stay away from tobacco smoke and heavy air pollution.
Don't drink alcohol.
Eat a balanced diet and maintain a healthy weight.
Speak to your doctor before using any herbal, vitamin or other therapies.
In patients with emphysema, antiinflammatory steroids and bronchodilators are the treatment of choice. Oxygen therapy may be required in patients' with resting PaO2 < 55m Hg or O2 saturation <85%, cor pulmonale, resting PaO2>55mHg or O2 saturation >85%who desaturate to PO2<55mHg or O2 saturation<85% with exercise.Surgery in the form of lung volume reduction by removing damaged portions of the lung is recommended in patients unresponsive to medical treatment. However, there is a high mortality with this surgery. There are also chances of air leaks and infection developing after the surgery. If this surgery works, it may help for a year.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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