D2I2.
genetic

Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin is a disorder that may result in lung disease or liver disease. Onset of lung problems is typically between 20 and 50 years of age. This may result in shortness of breath, , or an increased risk of lung . may include obstructive disease (COPD), , , or panniculitis.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Shortness of breath, , yellowish skin

Causes — why it happens

  • · in the SERPINA1 gene

How it's found

  • ·Based on symptoms, blood tests, tests

Treatment

  • ·Medications, lung , liver transplant

Complications

  • ·COPD, , , panniculitis

Outlook

  • ·Life expectancy ~50 years (smokers), nearly normal (non-smokers)
Plain-language summary adapted from Wikipedia. Not medical advice.