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Alpha-1 Antitrypsin Deficiency
Alternate Names : AAT Deficiency
DefinitionAlpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease.
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Overview, Causes, & Risk Factors
Alpha-1 antitrypsin deficiency results from a genetic defect. The mechanism that causes associated liver disease and emphysema in some people with this deficiency is not known, however some evidence suggests that it may be related to inflammation. Approximately 75% of adults with severe deficiency will develop emphysema, which often begins before 40 years of age. Smoking can increase risk.
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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Cirrhosis
• Emphysema
• Liver Disease
• Lung Disease
Tests & Exams
• Alpha-1 Antitrypsin
• Chest X-Ray
Other Topics
• Abdomen - Swollen
• Agitation
• Auscultation
• Bloody or Tarry Stools
• Breathing Difficulty
• Confusion
• Drowsiness
• Erection Problems
• Fainting
• Fatigue
• Foot, Leg, and Ankle Swelling
• Gynecomastia
• Headache
• Nausea and Vomiting
• Paleness
• Physical Examination
• Pulse - Bounding
• Rashes
• Sleeping Difficulty
• Thirst - Excessive
• Vision Problems
• Vomiting Blood
• Weight Loss - Unintentional
• Wheezing
Review Date : 5/7/2003
Reviewed By : David A. Kaufman, M.D., Pulmonary & Critical Care Medicine, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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