Alpha-1 Liver Disease: Diagnosis

What tests do I need to diagnose Alpha-1 liver disease?

To establish the diagnosis of Alpha-1 liver disease the doctor will perform these tests:

• Alpha-1 antitrypsin level, phenotype, and/or genotype in the blood

• Ultrasound or computed tomography of the liver to measure liver size, the blood flow within the liver and the echogenicity (Increased echogenicity means higher chance of scar formation, fatty accumulation or cirrhosis of the liver.)

• Biopsy or elastography to quantify the amount and distribution of the scar tissue in relationship to the other liver structures (hepatocytes, blood vessels, bile ducts).

People with Alpha-1 and one or two Z genes or other at-risk Alpha-1 genes with liver disease should be followed on an annual basis with:

• blood tests (liver panel, blood clotting tests, blood cell counts, renal function, tumor markers like alpha fetoprotein)

• liver ultrasound

• MELD score (a composite test based on blood test results) to determine the severity of liver disease

People with only Z gene and no liver disease can have a liver panel and liver ultrasound less frequently.