Family Histtory of Liver Disease

Has anyone heard of or been tested for a hereditary gene mutation called alpha1 antitrypsin? I stumbled on this genetic condition ( I work in the field of genetics) while doing some research and I was shocked to learn that my family history points to this gene mutation- relatives have the following: COPD, RA, jaundiced babies, elevated c reactive protein, elevated liver enzymes but not liver failure and 2 liver related deaths, and emphysema all on the same side of the family. Has anyone heard of or been tested for this? Apparently MDs are not familiar enough to notice the seemingly unrelated diseases and symptoms. But the prevelance is 1 in 1000 for the less severe version which is when only 1 gene copy is affected.  Any insight would be appreciated

[eureka254]

Mutation testing for alpha-1 antitrypsin deficiency is readily available, but result interpretation could be tricky, for as you noted most physicians are not familiar with the disease.  It is best to review your family history with a genetic counselor and to see if testing is appropriate. Quest Diagnostics has several versions of AAT testing available, including genotype testing:

http://www.questdiagnostics.com/hcp/testmenu/jsp/showTestMenu.jsp?fn=15340.html&labCode=MET

Hope that helps some.