When Should I See A Healthcare Provider About Alpha
Contact your healthcare provider if you or your child experiences symptoms of Alpha-1. If you or your child has unexplained lung or liver disease, your doctor may want to do a blood test to see if Alpha-1 is the cause. Always contact your healthcare provider if you or your child develops new or worrisome signs or symptoms of disease.
What Is Alpha 1
Alpha 1-proteinase inhibitor is a protein that occurs naturally in the body and helps prevent breakdown of tissues in the lungs. People who lack this protein because of a genetic deficiency can develop damage to the air sacs in the lungs .
Alpha 1-proteinase inhibitor is used to treat alpha 1-antitrypsin deficiency in people with symptoms of emphysema.
Alpha 1-proteinase inhibitor will not cure alpha 1-antitrypsin deficiency, and may not slow the progression of emphysema.
Alpha 1-proteinase inhibitor may also be used for purposes not listed in this medication guide.
What’s The Prognosis And Life Expectancy For A Person With Aatd
The prognosis of a genetic condition includes its likely course, duration, and outcome. When health professionals refer to the prognosis of a disease, they may also mean the chance of recovery however, most genetic conditions are life-long and are managed rather than cured.
Disease prognosis has multiple aspects, including:
- How long a person with the disorder is likely to live
- Whether the signs and symptoms worsen or are stable over time
- Quality of life, such as independence in daily activities
- Potential for complications and associated health
The prognosis of a genetic condition depends on many factors, including the specific diagnosis and an individual’s particular signs and symptoms. Sometimes the associated genetic change, if known, can also give clues to the prognosis. Additionally, the course and outcome of a condition depends on the availability and effectiveness of treatment and management approaches. The prognosis of very rare diseases can be difficult to predict because so few affected individuals have been identified. Prognosis may also be difficult or impossible to establish if a person’s diagnosis is unknown.
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Gene Structure And Common Mutations
Alpha-1-antitrypsin is a 394 amino acid, 52kDa, acute-phase glycoprotein synthesised by the liver and macrophages and present in the plasma at a concentration of 1.53.5g/l. It functions as an inhibitor of a range of proteolytic enzymes, but its primary role is to inhibit the enzyme neutrophil elastase. 1-Antitrypsin is subject to genetic variation resulting from mutations in the 12.2kb, 7-exon gene at q3131.2 on chromosome 14. Over 75 allelic variants have been reported and classified using the protease inhibitor nomenclature that assesses 1-antitrypsin mobility in isoelectric focusing analysis. Normal 1-antitrypsin migrates in the middle and variants are designated AL if they migrate faster than M, and NZ if they migrate more slowly. The most clinically relevant variants are the S and Z alleles and the uncommon Null alleles that result from point mutations that introduce premature stop codons.
How Is It Used
Alpha-1 antitrypsin testing is used to help diagnose alpha-1 antitrypsin deficiency as the cause of early onset emphysema or chronic obstructive pulmonary disease when a person does not have obvious risk factors such as smoking or exposure to lung irritants such as dust and fumes. It may also be used when someone has asthma that obstructs his or her breathing, even after treatment.
Testing is also used to help diagnose the cause of persistent jaundice and other signs of unexplained liver injury. This is done primarily in infants and young children but may be done in people of any age.
Testing may also be used to help determine whether a person who has a family history of alpha-1 antitrypsin deficiency has one or two copies of the SERPINA1 gene.
Three types of AAT tests are commonly available. One or more of these may be used to evaluate an individual:
Gene sequencing is uncommon for AAT but may be necessary to identify rare alleles and obtain an accurate diagnosis.
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this Section Provides General Information On The Entry
|< p> This subsection of the ‘Entry information’ section provides one or more accession number. These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary accession number’.< p> < a href=’/help/accession_numbers’ target=’_top’> More…< /a> < /p> Accessioni||P17987Primary accession number: P17987Secondary accession number: E1P5B2, Q15556, Q5TCM3|
|< p> This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification . The version number for both the entry and the < a href=”http://www.uniprot.org/help/canonical%5Fand%5Fisoforms”> canonical sequence< /a> are also displayed.< p> < a href=’/help/entry_history’ target=’_top’> More…< /a> < /p> Entry historyi||Integrated into UniProtKB/Swiss-Prot:|
Before Taking This Medicine
You should not use alpha 1-proteinase inhibitor if:
you’ve had a severe allergic reaction to an alpha 1-proteinase inhibitor or
you have an IgA deficiency or antibody against IgA.
Tell your doctor if you have ever had:
chronic obstructive pulmonary disease , or other breathing disorder.
Tell your doctor if you are pregnant or breastfeeding.
Not approved for use by anyone younger than 18 years old.
Alpha 1-proteinase inhibitor is made from donated human plasma and may contain viruses or other infectious agents. Donated plasma is tested and treated to reduce the risk of contamination, but there is still a small possibility it could transmit disease. Ask your doctor about any possible risk.
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Looking For Reference Ranges
You may be able to find your test results on your laboratorys website or patient portal. However, you are currently at Lab Tests Online. You may have been directed here by your labs website in order to provide you with background information about the test you had performed. You will need to return to your labs website or portal, or contact your healthcare practitioner in order to obtain your test results.
Lab Tests Online is an award-winning patient education website offering information on laboratory tests. The content on the site, which has been reviewed by laboratory scientists and other medical professionals, provides general explanations of what results might mean for each test listed on the site, such as what a high or low value might suggest to your healthcare practitioner about your health or medical condition.
The reference ranges for your tests can be found on your laboratory report. They are typically found to the right of your results.
If you do not have your lab report, consult your healthcare provider or the laboratory that performed the test to obtain the reference range.
For more information, please read the article Reference Ranges and What They Mean.
When Is It Ordered
Alpha-1 antitrypsin testing may be ordered when:
- An infant has jaundice that lasts for more than a week or two, an enlarged spleen, fluid accumulation in the abdomen , persistent itching , and other signs of liver injury
- Someone of any age has COPD, raised, tender skin spots that form ulcers , a vascular disease called granulomatosis with polyangiitis, or unexplained airway widening
- A person younger than 40 years of age develops wheezing, a chronic cough or bronchitis, is short of breath after exertion, and/or shows other signs of emphysema this is especially true when the person is not a smoker, has not been exposed to known lung irritants, and when the lung damage appears to be located low in the lungs.
- Someone has a close relative with alpha-1 antitrypsin deficiency
- An individual has an affected family member and wants to know the likelihood of having an affected child
In their 2003 guidelines, the American Thoracic Society recommends AAT testing when individuals are diagnosed with certain conditions such as:
- Emphysema at a young age and/or no obvious risk factors for the disease, such as smoking
- Granulomatosis with polyangiitis
- Unexplained bronchiectasis
The Alpha-1 Foundation also recommends offering AAT testing and genetic counseling to individuals with close or extended family carrying an abnormal AAT gene.
this Section Provides Information About The Protein And Gene Name And Synonym And About The Organism That Is The Source Of The Protein Sequence
names & Taxonomyi
|cellular organisms Eukaryota Opisthokonta Metazoa Eumetazoa Bilateria Deuterostomia Chordata Craniata Vertebrata Gnathostomata Teleostomi Euteleostomi Sarcopterygii Dipnotetrapodomorpha Tetrapoda Amniota Mammalia Theria Eutheria Boreoeutheria Euarchontoglires Primates Haplorrhini Simiiformes Catarrhini Hominoidea Hominidae Homininae Homo|
|< p> This subsection of the < a href=”http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection”> Names and taxonomy< /a> section is present for entries that are part of a < a href=”http://www.uniprot.org/proteomes”> proteome< /a> , i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.< p> < a href=’/help/proteomes_manual’ target=’_top’> More…< /a> < /p> Proteomesi|
Protein Function And Interactions
AAT protein inactivates elastase. Without AAT protein, elastase attacks stretchy proteins in lung tissue, causing damage to the lungs.
The most important job of alpha-1 antitrypsin protein is to protect the lungs from a protein called neutrophil elastase.
Elastase is made naturally by immune cells. When we breathe in irritantsthings like dust, smoke, viruses, or chemicalsimmune cells travel to the lungs and begin releasing elastase. Elastase breaks down invading bacteria and viruses, thus protecting us from infection.
If no AAT protein is present, elastase will also attack a structural protein called elastin. In the lungs, elastin is essential for helping tissue expand and contract as we breathe. As elastin is broken down, holes form in delicate lung tissue, making breathing difficult.
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Treating And Managing Alpha
To manage their health, people with Alpha-1 can use a combination of lifestyle behaviors and medical approaches. Lifestyle behaviors are aimed at keeping the body as strong and healthy as possible. Medical approaches are aimed at preventing and managing infections, and easing symptoms.
Carriers of one disease-causing allele may have a higher-than-average risk for lung and liver disease. But usually it also takes an unhealthy environmental factorsuch as obesity or cigarette smokingfor disease to develop. Carriers should follow the recommended lifestyle behaviors below and stay up-to-date on their vaccinations. Carriers should also talk to their doctors if they see warning signs of disease.
- Limit tobacco smoke and air pollution. Lung irritants cause inflammation and block the protective effects of AAT.
- Develop an exercise program. A stronger body has more stamina.
- Limit drinking alcohol. This is especially important in people who have alleles that can affect the liver.
- Eat a nutritious diet.
What Causes Aat Deficiency
AAT deficiency is an inherited condition. AAT deficiency happens when one or both parents pass on to their children an abnormal version of a gene that regulates the production of the AAT protein. Depending on the condition of the inherited genes, a persons AAT levels may be normal, reduced or absent. When a person inherits an abnormal gene from each parent, it increases the severity of disease.
Not every individual with AAT deficiency develops emphysema, a type of COPD. People with AAT deficiency are at an increased risk of developing lung disease early in life if they smoke, are exposed to secondhand smoke, work or live in a dusty environment, have a family history of emphysema, have a personal history of asthma,, or a history of repeated lung infections.
Symptoms And Features Of Alpha
Many people with Alpha-1 develop emphysema . The tiny air sacs in the lungs, called alveoli, are damaged. This makes the air spaces in the lungs larger, decreases the surface area of the lungs, and makes breathing difficult. Some people with Alpha-1 make a version of AAT protein that builds up inside of liver cells .
The effects of Alpha-1 can be very different from person to person. The effects depend mostly on the specific gene variants that a person has.
The main feature of Alpha-1 is damage to the tiny air sacs in the lungs. When the alveoli are damaged, the lungs have a harder time taking in oxygen. This can cause shortness of breath, coughing, or wheezing. Over time, people with Alpha-1 may develop lung diseases, such as asthma, emphysema, chronic bronchitis, or COPD . Lung disease can appear as early as age 30. These conditions are life-threatening, with symptoms that get worse over time.
Certain SERPINA1 gene variants can also cause liver damage. These alleles code for a sticky version of AAT protein that builds up in liver cells. Liver problems include liver cancer, liver failure, and cirrhosis . Liver symptoms can appear at any time, affecting infants, children, and adults.
In rare cases, hard and painful lumps may form under the skin. This is called panniculitis.
What Are The Complications Associated With Alpha
Complications of Alpha-1 depend on the disease it causes:
- Lungs: If you develop lung disease, complications may include emphysema or bronchiectasis .
- Liver: If Alpha-1 causes liver disease, you may experience swelling of your abdomen and legs, have a higher risk of infections, or develop liver scarring or cancer.
- Skin: In rare cases, some people with Alpha-1 develop a skin disease called panniculitis. This condition can cause painful red lumps in the skin. The lumps may break open and discharge liquid or pus.
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Fda Approved Treatment Medications For Aatd
The medication listed below have been approved by the Food and Drug Administration as orphan products for treatment of this condition.
Alpha1-Proteinase Inhibitor – Manufactured by Grifols United States: FDA-approved indication: For chronic replacement therapy of individuals having congenital deficiency of alpha1- proteinase inhibitor with clinically demonstrable panacinar emphysema.
this Section Provides Information On The Quaternary Structure Of A Protein And On Interaction With Other Proteins Or Protein Complexes
< p> This subsection of the < a href=”http://www.uniprot.org/help/interaction%5Fsection”> ‘Interaction'< /a> section provides information about the protein quaternary structure and interaction with other proteins or protein complexes .< p> < a href=’/help/subunit_structure’ target=’_top’> More…< /a> < /p> Subunit structurei
Component of the chaperonin-containing T-complex , a heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter .
Interacts with PACRG .
Interacts with GBA .
Interacts with DLEC1 .
|PS00751, TCP1_2, 1 hitPS00995, TCP1_3, 1 hit|
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Causes Of Aat Deficiency
Alpha-1 antitrypsin deficiency runs in families. If you have it, you got it from faulty genes that both your parents passed down to you.
Some people get the genes but don’t have any symptoms. Or they have a mild version of the disease.
That buildup in your liver causes liver disease. The shortage of AAT protein in your bloodstream leads to lung disease.
Risk Of Developing Liver Disease
For unknown reasons, only 15 per cent people with alpha-1 antitrypsin deficiency will show signs of liver disease in childhood. Of that group, about half will recover but they continue to be deficient in alpha-1 antitrypsin, putting them at risk for future complications of the disease, including lung, liver and skin disease in adulthood. The remaining 50 per cent of these children will develop worsening liver fibrosis and are at risk of liver cirrhosis and liver failure during childhood.
Adults may also develop signs of liver inflammation and liver damage later in life as the result alpha-1 antitrypsin deficiency.
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How Should I Use Alpha 1
Follow all directions on your prescription label and read all medication guides or instruction sheets. Use the medicine exactly as directed.
Alpha 1-proteinase inhibitor is injected into a vein, usually once per week.
Your first dose may be given in a medical setting where any serious side effects can be quickly treated.
Ask your doctor or pharmacist if you don’t understand how to use an injection.
Be sure you understand how to properly mix the powder form of alpha 1-proteinase inhibitor with a liquid and how to store the mixture.
Glassia is a liquid form of alpha 1-proteinase inhibitor that is not mixed with a diluent.
Prepare an injection only when you are ready to give it. Call your pharmacist if the medicine looks cloudy, has changed colors, or has particles in it.
Do not reuse a needle or syringe. Place them in a puncture-proof “sharps” container and dispose of it following state or local laws. Keep out of the reach of children and pets.
Doses are based on weight. Your dose may change if you gain or lose weight.
Store Aralast, Prolastin, or Zemaira at cool room temperature, away from moisture and heat. Use within 3 hours after mixing.
Store Glassia in the original carton in the refrigerator. Take the medicine out of the refrigerator and let it reach room temperature before preparing your dose.
Once Glassia has reached room temperature, you must use it within 1 month. Do not return it to a refrigerator.