"if CRP is > 8 mg/L and AAT ≥1.1 g/L, re-testing when CRP is normal or proceeding to genotyping is recommended 30"
"Alpha-1-antitrypsin (AAT) deficiency is an autosomal codominant genetic disorder that increases the risk of respiratory and hepatic disease."
"The estimated prevalence is 1 in ~2000 (range 2000-4000) individuals with European ancestry 30 and is considered the most common genetic mutation in the White population 28. It is reported to be uncommon in people of Asian descent ref. Approximately 90% of individuals with severe AAT deficiency remain undiagnosed 28."
"The classic presentation of the AAT deficiency is dyspnoea in the 4th to 5th decades 29."
"AAT is a protein that prevents enzymes such as elastase from degrading normal host tissue. It is mostly (90%) secreted by hepatocytes into the blood circulation 30."
"AAT is an acute phase reactant, rising 2-3x during an acute inflammatory response, which could mask a moderate-to-severe AAT deficiency 30"
"AAT is an acute phase reactant, rising 2-3x during an acute inflammatory response, which could mask a moderate-to-severe AAT deficiency 30"
"if CRP is > 8 mg/L and AAT ≥1.1 g/L, re-testing when CRP is normal or proceeding to genotyping is recommended 30"
"PiSS: moderate-to-severe AAT deficiency 30"
"PiZZ: severe AAT deficiency at high risk of developing emphysema 26"
"PiMZ: mild AAT deficiency; at some risk of developing lung and liver disease if other risk factors are present 29"
"PiSZ: moderate-to-severe AAT deficiency 29"
"Many conditions are associated with AAT deficiency:"
"chronic obstructive pulmonary disease (COPD): up to 2% of patients with COPD have severe AAT deficiency 30"
"PiMM: normal individuals 26"
"PiSS: moderate-to-severe AAT deficiency 30"
"PiZZ: severe AAT deficiency at high risk of developing emphysema 26"
"PiMS: minimally or not clinically significant 30"
"PiMZ: mild AAT deficiency; at some risk of developing lung and liver disease if other risk factors are present 29"
"PiSZ: moderate-to-severe AAT deficiency 29"
Expected headings
"Associations"
"Thoracic manifestations"
"Plain radiograph and CT"
"Nuclear medicine"
"Abdominal manifestations"
"Complications"
";"
"PiMZ: mild AAT deficiency; at some risk of developing lung and liver disease if other risk factors are present 29"
"basal predominance, in contradistinction to centrilobular emphysema, which shows apical predominance; the two conditions can coexist in smokers"