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Alpha-1 Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency

Alpha–1 antitrypsin deficiency (AATD) is a common genetic inherited autosomal-codominant disorder.

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In many cases, signs and symptoms of AAT deficiency do not show up before the individual is above the age of 30 years. However, some individuals who smoke tend to develop symptoms in their early 20s. AAT deficiency gravely affects the functioning of the lungs and the liver. The signs and symptoms include the following:

Weight Loss
  • Coughing, wheezing, shortness of breath, chest infection, fatigue and unexplained weight loss are some of the grave symptoms of this genetic disorder.[symptoma.com]
  • Symptoms of AAT deficiency include Shortness of breath and wheezing Repeated lung infections Tiredness Rapid heartbeat upon standing Vision problems Weight loss Some people have no symptoms and do not develop complications.[medlineplus.gov]
  • Unexplained weight loss and chronic respiratory infections associated with fever and rapid heart rate are additional findings that may be reported. As the lung disease advances, emphysema will develop.[texasliver.com]
  • Other common symptoms include: Unintentional weight loss Vision changes Fatigue Repeated respiratory infections Rapid heartbeat when standing Barrel-shaped chest A1AD also can cause other conditions and patients may experience symptoms associated with[cedars-sinai.edu]
  • BACKGROUND: The benefits of pulmonary rehabilitation (PR) on fatigue-resistant skeletal muscle fibre type I have been found to be smaller in COPD patients with alpha-1 antitrypsin deficiency (AATD) than in those without AATD.[ncbi.nlm.nih.gov]
  • Coughing, wheezing, shortness of breath, chest infection, fatigue and unexplained weight loss are some of the grave symptoms of this genetic disorder.[symptoma.com]
  • Individuals with alpha-1 antitrypsin deficiency usually experience respiratory symptoms, including shortness of breath following mild activity, reduced ability to exercise, wheezing, coughing, recurring respiratory infections, fatigue, and rapid heartbeat[chop.edu]
  • The most common adverse reactions during PROLASTIN-C LIQUID clinical trials in 5% of subjects were diarrhea and fatigue, each of which occurred in 2 subjects (6%). Please see full Prescribing Information for PROLASTIN-C LIQUID.[prolastin.com]
  • There was no correlation between decline in gas transfer and FEV1 for those with COPD, although a weak relationship existed for those without (r 0.218; P CONCLUSION: These data confirm differing individual rates of lung function decline in alpha-1-antitrypsin[ncbi.nlm.nih.gov]
  • […] recommendations similar to those in the joint statement by the European Respiratory Society and the American Thoracic Society, but the former group capped the age of screening in patients with COPD at 65 years, based on a review of available screening studies (weak[doi.org]
Intravenous Administration
  • For nearly three decades, treatment has been available to individuals with emphysema caused by AATD, but this therapy-augmentation of plasma and tissue alpha-1 antitrypsin levels by intravenous administration of human plasma-derived protein-was approved[ncbi.nlm.nih.gov]
  • Aysel ÜNLÜSOY AKSU, Alfa 1 Antitripsin Eksikliği Olan Çocukların Karaciğer Tutulumları ve Genetik Özellikleri, Turkish Journal of Pediatric Disease, 10.12956/tchd.539080, (1-5), (2019).[doi.org]
  • Coughing, wheezing, shortness of breath, chest infection, fatigue and unexplained weight loss are some of the grave symptoms of this genetic disorder.[symptoma.com]
  • If recurrent episodes of cough are most prominent, patients may be treated with multiple courses of antibiotics and evaluated for sinusitis, postnasal drip, or gastroesophageal reflux.[emedicine.medscape.com]
  • Patients with alpha 1-antitrypsin (AAT) deficiency, like those with asthma and chronic obstructive pulmonary disease, usually present with dyspnea, wheeze, and cough.[ncbi.nlm.nih.gov]
  • Patients with emphysema experience difficulty breathing, a hacking cough, and a barrel shaped chest.[chop.edu]
  • Dyspnea is the symptom that eventually dominates AATD (84%). [1] Similar to other forms of emphysema, the dyspnea of AATD is initially evident only with strenuous exertion. Over several years, it eventually limits even mild activities.[emedicine.medscape.com]
  • Here, we report the case of a 36-year-old Korean woman with AAT deficiency who visited the emergency department of our hospital for the treatment of progressive dyspnea that had begun 10 years ago. She had never smoked.[ncbi.nlm.nih.gov]
  • We report a case of panniculitis occurring in a 34-year-old woman with severe AATD following the extravasation of clarithromycin infused intravenously for treatment of community-acquired pneumonia. Resolution occurred with conservative management.[ncbi.nlm.nih.gov]
  • In addition, annual flu and pneumonia shots are especially important for patients with the disease, as respiratory infections can cause lung damage.[cedars-sinai.edu]
  • Complications may include pneumothorax, pneumonia, acute exacerbation of airflow obstruction, and respiratory failure.[emedicine.medscape.com]
  • You may be asked to get a pneumonia vaccine every 5 years and flu vaccine every year. If you have lung disease – If you smoke, you must stop smoking—call the Lung HelpLine at 1-800-LUNGUSA to get help quitting.[foundation.chestnet.org]
Decreased Breath Sounds
  • A physical examination may reveal a barrel-shaped chest, wheezing, or decreased breath sounds.[nlm.nih.gov]
  • Hyperinflation results in barrel chest, increased percussion note, decreased breath sound intensity (see breath sound assessment video, below), and distant heart sounds. Breath sound assessment.[emedicine.medscape.com]
  • For example, AATD may be suspected when a physical examination reveals a barrel-shaped chest, or, when listening to the chest with a stethoscope, wheezing, crackles or decreased breath sounds are heard.[genome.gov]
Sputum Production
  • Symptoms The initial symptoms of Alpha 1 antitrypsin deficiency include: Chronic cough Sputum production Wheezing If patients present with wheezing, they're often told that they have asthma.[1stclassmed.com]
  • Less common associations are panniculitis and an increase in the association of cytoplasmic antineutrophil cytoplasmic antibody‒positive vasculitis. [5] The initial symptoms of alpha1-antitrypsin deficiency include cough, sputum production, and wheezing[emedicine.medscape.com]
  • Symptoms by affected organ: Lungs Shortness of breath , excessive cough with phlegm/sputum production, wheezing. These symptoms can persist and lead to a decrease in exercise capacity and a persistent low energy state or tiredness.[foundation.chestnet.org]
  • COPD is characterized by coughing, shortness of breath, sputum production, rapid breathing, wheezing, and weight loss due to the energy required for labored breathing.[en.wikibooks.org]
Failure to Thrive
  • Other symptoms may include enlarged liver, bleeding, an abnormal accumulation of fluids within the abdominal cavity (ascites), feeding difficulties, and poor growth or failure to thrive.[rarediseases.org]
  • Other symptoms may include: Elevated liver enzyme levels Dark urine and pale stools Itching Enlarged liver Bleeding Feeding problems Poor growth or failure to thrive Diagnosis of Alpha-1 Antitrypsin Deficiency If your child has symptoms of alpha-1 antitrypsin[rileychildrens.org]
Chronic Abdominal Pain
  • We report a patient with Pi-SS phenotype alpha 1-antitrypsin deficiency and chronic pancreatitis complicated by recurrent pancreatic pseudocysts and chronic abdominal pain.[ncbi.nlm.nih.gov]
Pulsus Paradoxus
  • Jaundice in the newborn period can be physiologic and is often due to benign causes.[ncbi.nlm.nih.gov]
  • Infants who develop jaundice secondary to alpha-1 antitrypsin deficiency usually have resolution of the jaundice within the first year of life.[rileychildrens.org]
  • Jaundice : what conditions can be associated with jaundice? Last updated 01.10.2014[netdoctor.co.uk]
  • : Jaundice Ascites (accumulation of fluid in the abdomen) Portal hypertension (increased blood vessel pressure in the portal vein) Although there is no cure for this condition, treatments can help to reduce symptoms associated with alpha-1 antitrypsin[columbiasurgery.org]
  • […] birth including jaundice, swelling of the abdomen, and poor feeding In some children, the signs of alpha-1 antitrypsin deficiency do not become apparent until early childhood or adolescence when they may develop hepatitis, enlarged spleen, ascites, pruritus[en.wikibooks.org]
  • Alpha-1 antitrypsin testing may be requested when a newborn or infant has jaundice that lasts for an extended period of time (more than a week or two), an enlarged spleen, ascites (fluid accumulation in the abdominal cavity), pruritus (itching), and other[labtestsonline.org.au]


The condition of AATD is usually diagnosed when an individual complains of shortness of breath or is suffering from lung or liver disorders. Lung and liver disease are the preliminary features of AATD.

Blood test to determine the levels of AAT is carried out. In addition, a phenotype blood test is also done to assess the presence of the causing gene. Several other diagnostic tests such as lung functioning tests known as spirometry are done to evaluate the functioning ability of the lungs.

Imaging studies that include an X-ray and CT scan of the chest is also done to further understand the capacity of the lungs. CT scan of the chest would reveal whether the patient has emphysema and its degree of severity. Liver function tests may also be done in order to assess the functioning of the organ.

Pulmonary Infiltrate
  • Then, in May, 2002, she started to present cough, fever and bilateral leg pain and was diagnosed as having CSS on the basis of her past history of allergic rhinitis, pulmonary infiltration, eosinophilia and the presence of antineutrophil cytoplasmic antibody[webview.isho.jp]
Hepatocellular Carcinoma
  • Cirrhosis and hepatocellular carcinoma then result in some patients.[ncbi.nlm.nih.gov]
  • Hepatocellular carcinoma screening is also needed (more common in males than in females). Liver failure may require transplantation.[patient.info]
  • carcinoma, not always associated with cirrhosis PiMZ: intermediate plasma levels of AAT (expression of alleles is autosomal codominant) Pi null: rare variant with no detectable serum AAT PiS: low serum AAT but no disease AAT deficiency variants: secretory[pathologyoutlines.com]
Liver Biopsy
  • A repeat liver biopsy confirmed the presence of a second hereditary disease. This is a unique concurrence of two uncommon genetic disorders.[ncbi.nlm.nih.gov]


So far there is no known treatment plan to cure this genetic disorder. Treatment methods are designed to effectively manage the disease condition and slow down the progression of the disease. Medications form the primary basis of the treatment program. The individual is put on drugs such as a steroids and bronchodilators to help manage the inflammation and flare-ups of emphysema. Antibiotics may also have to be prescribed if the individual is also suffering from infection of the chest. Theophylline that works as a bronchodilator is also prescribed to patients. Augmentation therapy with intravenous alpha-1 antitrypsin protein may afford some benefits for patients with low levels of AAT below 11 µM [8].

Surgery is often the last resort when the patients with COPD develop bullae characterized by large air–filled sacs. Liver transplantation may be required among patients with cirrhosis due to AAT deficiency [9].

Immunizations shots are also given to individuals with emphysema. Some individuals may also be advised to undergo home oxygen therapy. Individuals with recurrent bouts of emphysema may benefit from this. Portable oxygen cylinders are available and oxygen is supplied either through tubes or masks.


The prognosis of the disease condition varies with the degree of symptoms and the pace at which the disease progresses. However, with prompt diagnosis and effective treatment regime, individuals are thought to recover well. The progression of the disease can be arrested and the symptoms put to rest. Since this is an inherited disease condition, it cannot be cured but managed well with appropriate treatment.


If timely diagnosis and treatment is not initiated, then AAT deficiency can bring along life threatening complications. These include:


Alpha–1 antitrypsin deficiency is a genetic disorder. If a child inherits two AAT genes from both the parents, then he is said to have developed the AAT deficiency.

The faulty AAT gene that is known to cause the genetic disorder is known as PiZ. Now, if the child inherits one normal AAT gene and one faulty AAT gene (Piz) then he would not suffer from AAT deficiency. However, in such cases, there is a possibility that the child transfers the faulty PiZ gene to the next generation.


About 1.1 million individuals across the globe fall prey to this genetic disease. Earlier it was thought that AAT deficiency is only the disease of Caucasians. However, with in depth research it was revealed that this inherited genetic disorder exists amongst all racial groups. It has also been estimated, that about 3.1 million Americans suffer from COPD.

Of these about 1.9% individuals suffer from COPD as a result of AAT deficiency. Statistics have also revealed that about 1 in every 3000 to 5000 individuals of UK suffer from AAT deficiency. Of the 100,000 person with AAT deficiency in the world only less than 10% are identified clinically [5].

The median time from the instance the symptoms were observed to the time of clinical diagnosis is 8 years making mortality rate for symptomatic patients very high [6].

Sex distribution
Age distribution


AAT deficiency is an inherited autosomal disorder that occurs due to mutations in a specific gene that is known to alter the configuration of the alpha–1 antitrypsin molecule. This specific gene is named as SERPINA1 and is located in the long arm of chromosome 14. Alteration of the configuration of AAT prevents its release from the hepatocytes causing a significant decrease in its serum levels. This sequence of events gives rise to the condition related to AAT deficiency.


AAT being an inherited disorder has no prevention. However, early detection of this disease can help in better management of the disease condition. If parents suffer from the same, then diagnosis of their children at an early age can help early initiation of treatment. Making small changes in lifestyle can go a long way in better management of the disease condition. The following practices can be adopted:

  • The practice of smoking cigarettes should be discontinued. It not only aggravates the existing condition but also speeds up the development of signs and symptoms of the disease.
  • Alcohol should be avoided as it would further aggravate the condition in individuals suffering from liver disease as a secondary complication of AAT.
  • The administration of pneumococcal and influenza vaccination have significantly lowered the incidence of emergency room visits of AAT deficient patients with clinical emphysema [10].


Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that occurs due to absence of alpha–1 antitrypsin (AAT) enzyme. This heritable disorder predisposes an individual to fall prey to an array of clinical diseases especially early onset emphysema [1]. However, the lungs and the liver are the two main organs that are severely affected. The effects of AATD are not evident until one is of 30 years of age [2].

There is no cure to this disease. The symptoms can however be managed with an effective treatment regime. An estimated 1-5% of adults with chronic obstructive pulmonary disease (COPD) may have AAT deficiency [3]. Although adults AATD cases are more predisposed to emphysema, cases of children with AAT deficiency presenting with emphysema symptoms may occur rarely [4].

Patient Information


Alpha-1 antitrypsin (AATD) deficiency is an inherited genetic disorder caused due to deficiency of the alpha–1 antitrypsin. This disorder generally affects the lungs and liver of the individual. So far there is no cure to this disease, but with appropriate treatment regime, the symptoms can be managed and the progression of the condition slowed down.


Two faulty genes of AATD are responsible for the causation of the disease condition. These faulty genes are known as PiZ. If the individual inherits one faulty gene and one normal then he would not develop AATD; however he may pass on the faulty gene to his children.


AATD generally presents lung and liver disorders. Coughing, wheezing, shortness of breath, chest infection, fatigue and unexplained weight loss are some of the grave symptoms of this genetic disorder.


The condition is usually diagnosed through blood tests that detect the level of alpha–1 antitrypsin. In addition spirometry is also done to assess the lung functioning. Imaging studies that include X-ray and CT scan of the chest are done to evaluate emphysema.


Treatment of AATD includes medications that are given to control the wheezing and coughing problem. Antibiotics and steroids are administered to combat the infection and bring down the inflammation.



  1. Stoller JK, Aboussouan LS. A review of a1-antitrypsin deficiency. Am J Respir Crit Care Med. Feb 1 2012; 185(3):246-59.
  2. Kauppi P, Jokelainen K. Alpha-1 antitrypsin deficiency. Duodecim. 2011; 127(18):1911-8 (ISSN: 0012-7183)
  3. Marciniuk DD, Hernandez P, Balter M, Bourbeau J, Chapman KR, Ford GT, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. Mar-Apr 2012; 19(2):109-16.
  4. Stoller JK, Lacbawan FL, Aboussouan LS. Alpha-1 Antitrypsin Deficiency. 1993
  5. Greene DN, Elliott-Jelf MC, Straseski JA, Grenache DG. Facilitating the laboratory diagnosis of a1-antitrypsin deficiency. Am J Clin Pathol. Feb 2013; 139(2):184-91.
  6. Bornhorst JA, Greene DN, Ashwood ER, Grenache DG. A1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. Chest. Apr 2013; 143(4):1000-8.
  7. Serapinas D, Obrikyte V, Vaicius D, Balciuviene R, Valavicius A, Sakalauskas R. Alpha-1 antitrypsin deficiency and spontaneous pneumothorax: possible causal relationship. Pneumologia. 2014; 63(1):32-5 (ISSN: 2067-2993)
  8. Campos MA, Lascano J. a1 Antitrypsin deficiency: current best practice in testing and augmentation therapy.Ther Adv Respir Dis. Jul 9 2014
  9. Carey EJ, Iyer VN, Nelson DR, Nguyen JH, Krowka MJ. Outcomes for recipients of liver transplantation for alpha-1-antitrypsin deficiency–related cirrhosis. Liver Transpl. 2013; 19(12):1370-6 (ISSN: 1527-6473)
  10. Köhnlein T, Janciauskiene S, Welte T. Diagnostic delay and clinical modifiers in alpha-1 antitrypsin deficiency. Ther Adv Respir Dis. 2010; 4(5):279-87 (ISSN: 1753-4666)

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Last updated: 2019-07-11 20:11