Information displayed below is a subset of the entire knowledge base and may be incorrect, or incomplete intensionally or inadvertently. If you detect a serious error or want access to the complete knowledge base, please contact us.

Description

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that affects the lungs and liver. It is caused by a deficiency of the protein alpha-1-antitrypsin (AAT), which is produced in the liver and helps protect the lungs from damage. People with AATD are at an increased risk of developing lung diseases such as emphysema and chronic obstructive pulmonary disease (COPD). They may also be at risk of developing liver disease, including cirrhosis. AATD is inherited in an autosomal recessive pattern, meaning that both parents must pass on a defective gene in order for the child to be affected. Treatment for AATD typically involves lifestyle changes, such as quitting smoking, and medications to help manage symptoms.

Synonyms

• alpha-1-antitrypsin deficiency

Basic Lab Tests (measurements)

• serum
  •      cholate
  •      aspartate aminotransferase
  •      lactate dehydrogenase
  •      apolipoprotein A-I
  •      cholesterol ester
  •      protein
  •      triglyceride
  •      alanine aminotransferase
  •      potassium
  •      alpha-1-antitrypsin
  •      bicarbonate
  •      chenodeoxycholate
  •      cholesterol
  •      total alkaline phosphatase
  •      chloride
  •      albumin
  •      apolipoprotein B
  •      bile acids
  •      direct bilirubin
  •      neopterin
  •      bilirubin
  •      calcium
  •      alpha-2-macroglobulin
  •      apolipoprotein A-II
• urine
  •      bilirubin
  •      bile acids
• whole blood
  •      leukocytes
  •      hemoglobin
  •      hematocrit
  •      platelets

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: