Alpha-1 Antitrypsin Deficiency (AATD)
Metabolic, Biliary Atresia & Related Diseases
Alpha1-antitrypsin deficiency is an inborn genetic disorder that affects 1 in 2500 individuals. It increases susceptibility to lung disease in adults (emphysema), and liver disease in both children and adults. It is one of the main causes of neonatal cholestasis, and can lead to chronic liver injury and cirrhosis. PiZZ is the classic form of severe alpha1-antitrypsin deficiency, while combinations of other genetic variants are often less damaging.
To confirm the diagnosis, your doctor can prescribe a blood test assessing the serum level of the protein and the analysis of the serum phenotype. A genetic analysis is performed to complete the diagnosis. A liver biopsy is not required to establish the diagnosis, but can be performed in order to characterize the stage of the liver disease or to confirm the diagnosis in case of atypical presentation.
Concerning the liver disease, the management is essentially preventive (limited alcohol consumption, avoid overweight and prevent viral hepatic infections (hepatitis A and B vaccination, prevention of hepatitis C). A treatment with ursodeoxycholic acid can be used. In case of cirrhosis, the follow-up should be provided by a hepatologist in order to manage the complications of portal hypertension (monitoring and prophylactic treatment of gastroesophageal varices, treatment of ascites, monitoring of liver carcinoma). In case of decompensated cirrhosis, a liver transplantation may be considered.
The pulmonary disease requires a follow-up by a pneumologist. In addition to the treatment of chronic obstructive pulmonary disease/and or emphysema (bronchodilators, oxygen), it may require an intravenous augmentation with alpha1-antitrypsin.