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Alpha 1-Antitrypsin Deficiency
Taxonomy Code: YF-3000.0410
An inherited disorder that can cause liver disease in children and liver and/or lung disease (emphysema) in adults. Earliest symptoms are generally shortness of breath following mild activity, reduced ability to exercise and wheezing. Other signs may include unintentional weight loss, recurring respiratory infections, fatigue and rapid heartbeat upon standing. Individuals with the deficiency are also at risk of developing a type of liver cancer called hepatocellular carcinoma; and in rare cases, may develop a skin condition called panniculitis which is characterized by hardened skin with painful lumps or patches. The signs and symptoms of the condition and the age at which they appear vary among individuals.
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Liver Disease (YF-3000.4700)
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Emphysema (YF-3000.2800)
Cirrhosis of the Liver (YF-3000.1790)