I recently found out that I have a genetic deficiency for Alpha-1 Antitrypsin (I got the blood test for it because my sister found out she has it).
From www.alpha1.org/whatisalpha1/a1facts.php :
"Alpha-1 Antitrypsin Deficiency or Alpha-1 is a genetic (inherited) condition that may result in serious, chronic lung and/or liver disease at various ages in life (children and adults). Disease is caused by an abnormal alpha1 protein that is mainly produced by the liver. Alpha-1 is diagnosed by a blood test.
Alpha-1 is often misdiagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD). How are the lungs affected? The abnormal alpha-1 protein is trapped in the liver, causing a deficiency of the protein that would normally circulate in the blood and protect the lungs from many types of damage. The main result may be emphysema (destruction of supporting structures/air sacs within the lung), even in adult, never smokers. Despite treatments, including protein replacement, adults may require a lung transplant due to severe emphysema.
Liver disorders are caused by the accumulation of the abnormal alpha-1 protein within the liver cells. The effects of such accumulation can range from abnormal liver function tests without symptoms to severe, symptomatic scarring (cirrhosis of the liver) and, rarely, liver cancer. Children and adults may require a liver transplant if the liver is severely affected.:
It is estimated that 1 in 2500 Americans are affected by it. From what I understand there's not much you can do it about it except make healthy lifestyle changes.
While this isn't good news for me, it could be worse. According to my doctor "Your phenotype is M. The second allele could not be idenified. It is not Z and not S. It may be M/Null, but can't be proved." (see the table at http://www.alpha1.org/whatisalpha1/howdiagnosed.php )
This may explain why it took me 28 weeks to get to undetected and relapsed after 92 weeks of tx. Or not. I did recently rule out insulin resistance as a factor in my relapse.
Anyone out there in the same boat, or heard or read about anyone in the same boat?
smaug