α1-antitrypsin (AAT) deficiency is an autosomal codominant genetic disorder that causes lung, liver, and skin disease.
Lung disease in AAT deficiency can develop after the 3rd decade ...
Highly variable presentation in neonates and young children
Most infants develop cholestatic jaundice, hepatosplenomegaly, poor feeding, and poor weight gain.
Jaundice typically improve...
There is no specific treatment for the liver disease associated with AAT deficiency.
Management involves supportive care to try to prevent complications of chronic liver disease.
Patients with...
Annual liver and pulmonary function testing
Surveillance for hepatocellular carcinoma in PiZZ patients is suggested, but consensus on frequency a...
Miranda E, Pérez J, Ekeowa UI, et al. A novel monoclonal antibody to characterize pathogenic polymers in liver disease associated with alpha1-antitrypsin deficiency. Hepatology. ...
273.4 Alpha-1-antitrypsin deficiency
E88.01 Alpha-1-antitrypsin deficiency
30188007 alpha-1-Antitrypsin deficiency (disorder)
Q: Do all patients with presumed AAT require liver biopsy for diagnosis?
A: No. A liver biopsy is not required for diagnosis but may help be performed to support it.
Q: Are PAS-positive, diastase-re...
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