The risk of chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. disease in MZ carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. is much less than that of people with Alpha-1 [ZZs]. Research suggests that chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. liver disease might appear in MZ carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. only when the liver has been damaged first by something else. Things that could harm the liver are a virus, such as hepatitis B or C, or a chemical such as alcohol.
The Liver and Alpha-1 Antitrypsin Deficiency – Alpha-1 Foundation
This is a question that everybody asks that I don’t know the answer to, or we don’t know yet but hopefully we will sometime soon. What is the risk if I am a carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. or if my child is a carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick.? We know there is some risk but how big that risk is hard but we think it’s probably at least two times normal or the normal population’s risk for liver disease. What’s been very well described in the MZ population is they are often diagnosed with fatty liver and so the two are probably associated with each other in some way. You can often see the Alpha-1 globules accumulate on the liver biopsy even in a person with MZ, so I believe that the association is real. And the question is how do you screen for it? How do you test for it? What do you do?
Alpha-1 Antitrypsin Deficiency 101; Liver Disease (37min video – 32min mark) – Virginia Clark, MD Associate Program Director, Transplant Hepatology Fellowship Assistant Professor of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of FloridaWell the same way you would for a ZZ you would probably just need monitoring once a year.
People with an MZ or MS genotype – one normal gene, M, and one abnormal gene, Z or S – are often referred to as heterozygotes or “carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick.”. In general, we do not consider carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. to be at risk for developing liver disease. Liver disease usually becomes an issue only if a person has both abnormal genes, termed ZZ or SZ. However, some controversial research studies have been done which raised the possibility of liver problems in carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick.. These studies had a number of flaws – the carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. were found because they had problems. It is difficult to know why these health problems began or how many other heterozygous people were in good health – and never went to the doctor. In fact, several of these studies included large numbers of heterozygous patients who also were infected with hepatitis B virus or hepatitis C virus. This prevented any definite conclusions.
This does not rule out the possibility that in some case an Alpha-1 “carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick.” who has some other factor, such as a hepatitis viral infection, could lead to liver injury that would not otherwise occur; but it would certainly be a rare event. Moreover, in such a situation, it would be very difficult for a physician to say for sure what the cause was of any resulting liver dysfunction. This is especially true when one considers that approximately 1 in every 35 Americans is a carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick.. Clearly, the occurrence of liver disease is much less common than 1 in 35 persons. Also, in most cases of liver disease, a cause such as a toxin or infection can be easily identified, leaving only a small minority of cases previously unexplained.
Therefore, carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. are usually not considered at risk for developing liver disease. If a person does develop liver disease, and it is discovered that he is a carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick., then this should not be assumed to be the final explanation for the disease. An evaluation by a physician who specializes in liver problems should be performed to look for other causes of liver disease that would be much more likely, and possibly more treatable.
Jeffrey H. Teckman, MD – Alpha-1 Liver Disease Q&A – Alpha-1 Foundation