This open-label, phase 2 trial investigated the safety and efficacy of fazirsiran, an RNA interference therapeutic, in patients with liver disease associated with AAT deficiency. The Z allele produces a mutant AAT protein called Z-AAT, which accumulates in hepatocytes and can lead to progressive liver disease and fibrosis. The most trusted, influential source of new medical knowledge and clinical best practices in the world.Īlpha 1-antitrypsin (AAT) deficiency results from carriage of a homozygous SERPINA1 “Z” mutation (proteinase inhibitor ZZ). Information and tools for librarians about site license offerings. Valuable tools for building a rewarding career in health care. The authorized source of trusted medical research and education for the Chinese-language medical community. The most advanced way to teach, practice, and assess clinical reasoning skills. Information, resources, and support needed to approach rotations - and life as a resident. The most effective and engaging way for clinicians to learn, improve their practice, and prepare for board exams. NEW! Peer-reviewed journal featuring in-depth articles to accelerate the transformation of health care delivery.Ĭoncise summaries and expert physician commentary that busy clinicians need to enhance patient care. Your privacy and confidentiality are carefully protected.NEW! A digital journal for innovative original research and fresh, bold ideas in clinical trial design and clinical decision-making. They are sensitive to the physical and emotional aspects of these decisions. Genetic counsellors are trained to help you and your family make informed decisions. Help you learn about caring for a family member with a genetic disease, including getting referrals to specialists or joining support groups.Understand how your family history contributes to the development of a disease.Understand medical facts, including what causes diseases, how a diagnosis is made, and what you may be able to do to help you manage a disease.Genetic counselling can help you and your family: A genetic counsellor can help you make well-informed decisions. Genetic counsellors are trained to explain the test and its results, but you make the decision about whether to have the test. Ask to have genetic counselling before making a decision about testing. Information from genetic testing can have a big impact on your life. You receive the plasma through an IV, usually every 3 to 4 weeks for life. The plasma is made from the blood of many donors and is treated to reduce the chance of spreading an infectious disease. It is not clear that this treatment is any better than avoiding smoke and other lung-damaging chemicals. This is usually given only to people who have very low levels of AAT in their blood. The only treatment available for the lack of the protein is plasma containing alpha-1 antitrypsin. You may also need medicines and other treatments to help you breathe easier and stay as healthy and strong as you can. Exercise can improve your stamina and overall health. You also may want to avoid alcohol because of the risk of liver damage. Also try to avoid dust and workplace chemicals. Treatment for alpha-1 antitrypsin deficiency involves avoiding substances-especially cigarette smoke-that could harm your lungs. Some people who carry the changed gene may have very mild symptoms of the deficiency. The good copy of the gene you received from your other parent is enough to tell your body how to properly make alpha-1 antitrypsin. If you receive only one changed gene, you do not have the disease but are a carrier. To have this condition, you have to get the changed gene from both parents. There are many kinds of possible changes in this gene, but only a few cause problems. AAT deficiency is a rare disorder and is the only known genetic (inherited) factor that increases your chances for developing emphysema.Īlpha-1 antitrypsin deficiency is caused by a change, or mutation, in the gene that tells the body how to make alpha-1 antitrypsin. Some types of abnormal AAT can also damage the liver. These people are more likely to have lung diseases and will get them at a younger-than-normal age (30 to 40 years old). Some people do not make enough of this protein or they make an abnormal type of AAT, either of which can cause AAT deficiency. It helps protect the lungs from diseases such as emphysema and chronic obstructive pulmonary disease (COPD). Alpha-1 antitrypsin (AAT) is a protein normally found in the lungs and the bloodstream.
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