Alpha-1 antitrypsin deficiency

Alternative names:

AAT deficiency

Symptoms:

• shortness of breath
• shortness of breath with mild exertion
• unintentional weight loss
• wheezing
• yellow skin, jaundice

Additional symptoms that may be associated with emphysema or cirrhosis:

• thirst, excessive
• fatigue
• lightheadedness or fainting occurs with upright posture
• ankle, feet, and leg swelling
• slow, sluggish, lethargic movement
• skin rash or lesion on the hands or feet, redness
• paleness
• headache
• vision abnormalities
• dry mouth
• increased front-to-back diameter of the chest (barrel shaped chest)
• abnormal breathing pattern, exhalation takes more than twice as long as inspiration
• rapid heart rate (tachycardia) when rising to a standing position
• vomiting blood
• vomiting containing coffee ground material
• abdomen, swollen or increased abdominal circumference (girth)
• bloody or dark black or tarry bowel movements (melena)
• breast development in males
• impotence
• confusion
• impaired ability to concentrate
• daytime sleepiness
• difficulty falling asleep or staying asleep (insomnia)
• awakening from sleep not rested
• agitation
• fluctuating mood
• irritability or poor temper control
• difficulty paying attention (attention deficit)
• impaired judgment
• memory loss
• hallucinations

Signs and tests:

Prenatal tests can indicate this deficiency before birth. Physical examination reveals a barrel-shaped chest and edema (accumulation of fluid in the tissues). Listening to the chest with a stethoscope (auscultation) reveals wheezing.

• arterial blood gases
• alpha-1 antitrypsin
• chest x-ray
• pulmonary function test

This disease may also alter the results of a protein electrophoresis - serum test.