About Alpha 1 Antitrypsin Deficiency
Learn about the disease, illness and/or condition Alpha 1 Antitrypsin Deficiency including: symptoms, causes, treatments, contraindications and conditions at ClusterMed.info.
Alpha 1 Antitrypsin Deficiency
Alpha 1 Antitrypsin Deficiency |
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Alpha 1 Antitrypsin Deficiency InformationAlpha-1 antitrypsin deficiency definition and facts**Facts medically reviewed by Charles P. Patrick, MD, PhD
Alpha-1 antitrypsin deficiency treatment and management guidelinesTreatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy.[3][4] Bronchodilators and inhaled steroids can help open the airways and make breathing easier.[4]Intravenous augmentation therapy (regular infusion of purified, human AAT to increase AAT concentrations) has been recommended for people with established fixed airflow obstruction (determined by a specific lung function test).[3] This therapy raises the level of the AAT protein in the blood and lungs.[4]Lung transplantation may be an appropriate option for people with end-stage lung disease. Liver transplantation is the definitive treatment for advanced liver disease.[3]When present, panniculitis may resolve on its own or after dapsone or doxycycline therapy. When this therapy does not help, it has responded to intravenous augmentation therapy in higher than usual doses.[3]All people with severe AATD should have pulmonary function tests every 6 to 12 months. Those with ATT serum concentrations 10% to 20% of normal should have periodic evaluation of liver function to detect liver disease. People with established liver disease should have periodic ultrasounds of the liver to monitor for fibrotic changes and liver cancer (hepatocellular carcinoma).[3]Yearly vaccinations against influenza and pneumococcus are recommended to lessen the progression of lung disease. Vaccination against hepatitis A and B is recommended to lessen the risk of liver disease. People with AATD should avoid smoking and occupations with exposure to environmental pollutants.[3]Parents, older and younger siblings, and children of a person with severe AATD should be evaluated to identify as early as possible those who would benefit from treatment and preventive measures.[3]Management guidelines
Chart of signs and symptoms of lung and liver disease caused by AATDThe Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies.Signs and Symptoms of Alpha-1 Antitrypsin DeficiencySigns and SymptomsApproximate number of patients (when available)EmphysemaVery frequent (present in 80%-90% of cases)Hepatic failure (liver failure)Very frequent (present in 80%-90% of cases)Hepatitis (liver inflammation or infection)Frequent (present in 30%-79% of cases)An abnormally enlarged liver (hepatomegaly)Frequent (present in 30%-79% of cases)Jaundice (signs of a liver problem)Frequent (present in 30%-79% of cases)Cirrhosis (a complication of liver disease)Occasional (present in 5%-29% of cases)Autosomal recessive inheritanceCOPD (chronic obstructive pulmonary disease)Shortness of breath (Dyspnea)Elevated hepatic transaminasesLiver cancer (hepatocellular carcinoma) FDA approved treatment medications for AATDThe medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.Alpha1-Proteinase Inhibitor (Human) (Brand name: Prolastin) - 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. How common is alpha-1 antitrypsin deficiency?Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a lung condition called chronic obstructive pulmonary disease (COPD). COPD can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 antitrypsin deficiency is often never diagnosed. Some people with alpha-1 antitrypsin deficiency are misdiagnosed with asthma. What gene mutations cause alpha-1 antitrypsin deficiency?Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency.The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin. This protein protects the body from being damaged by a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (such as lung tissue) if not carefully controlled by alpha-1 antitrypsin. Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin protein or an abnormal form of the protein that cannot control neutrophil elastase. Uncontrolled, neutrophil elastase destroys alveoli, which can lead to emphysema. The abnormal form of alpha-1 antitrypsin can also accumulate in the liver and may damage this organ. What is alpha-1 antitrypsin deficiency (AATD)?Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become damaged, making breathing hard. Age of onset and severity of AATD can vary based on how much ATT an affected person is missing. In adults, symptoms may include shortness of breath; reduced ability to exercise; wheezing; respiratory infections; fatigue; vision problems; and weight loss. Some people have chronic obstructive pulmonary disease (COPD) or asthma. Liver disease (cirrhosis) may occur in affected children or adults. Rarely, AATD can cause a skin condition called panniculitis.[1] AATD is caused by mutations in the SERPINA1 gene and is inherited in a codominant manner.[2] Treatment is based on each person's symptoms and may include bronchodilators; antibiotics for upper respiratory tract infections; intravenous therapy of AAT; and/or lung transplantation in severe cases.[1][3] What tests diagnose AATD?AATD may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age.Confirming the diagnosis involves a blood test showing a low serum concentration of the alpha-1 antitrypsin (AAT) protein, and either:
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:
Where can I find information about treatment for alpha-1 antitrypsin deficiency?These resources address the management of alpha-1 antitrypsin deficiency and may include treatment providers.
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