Alpha-1 Liver Disease Q&A


By Jeffrey H. Teckman, MD
Associate Professor of Pediatrics’and Biochemistry and Molecular Biology, St. Louis University School of Medicine Director, Gastroenterology and Hepatology, Cardinal Glennon Children’s Medical Center St. Louis, MO

Your questions about Alpha-1 liver disease are invited (email, and Dr. Teckman will answer them here as time allows.

Score drives liver transplant allocationplus

Q: My cousin recently died from Alpha-1 Antitrypsin Deficiency because he didn’t receive a liver transplant in time. Part of the problem was that his MELD score was rarely high enough for him to be the next in line for a transplant. Is this typical? What can be done to take other numbers into account in the MELD scoring system?

A. I’m sorry for the loss and stress. This is a difficult process.

The Model for End-Stage Liver Disease, or MELD, is a scoring system used by the United Network for Organ Sharing (UNOS) to assess the severity of chronic liver disease and prioritize allocation of liver transplants. In general, MELD drives transplant allocation. There is a process to make exceptions, but the real issue is that there are many more people waiting for organ transplants than there are organs available. Our research focus is to PREVENT the need for transplantation. Trying to make disease-based changes in the allocation system is not likely to happen, but people will continue to pay attention to justified exception requests.

Diabetes drugs in Alpha-1 liver diseaseplus

Q: I need an opinion about diabetes management for those with Alpha-1 liver disease. I was diagnosed with Alpha-1 in 2004. My phenotype is SZ. A liver biopsy in 2004 showed stage II fibrosis with grade one inflammation.

I have recently been diagnosed with Type II diabetes. My internist has placed me on 500 mg Metformin, Lisinopril and a statin drug. She is aware of the Alpha-1 diagnosis.

Metformin is contraindicated for patients with liver disease. As a result, the internist wants to monitor my liver enzymes monthly. She also placed me on a restricted diet that I adhere to.

The other alternative for oral medications is the sulfonylureas. These drugs also carry precautions about liver disease. Although oral medications and diet satisfactorily control my blood glucose, I’d like to discuss with my internist substituting insulin therapy because of the liver disease.

A: I really can’t give you a definite answer about specific medications for you. I don’t have your records, and of course, I haven’t seen you.

In general, doctors are cautious with such medications in someone with a known liver issue, but that doesn’t mean they couldn’t be safely used. You doctor sounds aware and has instituted a monitoring plan. What does the liver specialist say?

Lots of medications will list some kind of liver disease warning. In most cases this just means cautious monitoring, although in some cases it means “don’t use.” The doctor’s recommendations must be individualized to take into account the other health concerns of the patient.

Sorry I can’t be more specific. Stay engaged with your doctors, who sound like they are monitoring you carefully.

Can Alpha-1 recur after a liver transplant?plus

Q: Can Alpha-1 come back after a liver transplant?

My adult son, who received a liver transplant two years ago due to Alpha-1, is now having severe liver symptoms. Does the disease remain forever? Or could it be a different underlying problem? He will soon undergo a biopsy, but, some other information would be helpful.

A: No. After a liver transplant, the patient no longer has Alpha-1. However, an organ transplant of any kind is not a “cure.” It is really trading one problem, such as Alpha-1, for another. Having an organ transplant requires ongoing medical monitoring and continued medications. Often, there are other medical complications as time goes on. The hope is that the complications of the transplant are less than the original disease.

MZ genotype does not explain elevated liver enzymesplus

Q: My father, an Alpha with the ZZ genotype, had a liver transplant in March and I gave birth the same month.

In May I completed a physical for life insurance and was denied coverage because all of the four liver enzymes were elevated. My bilirubin is still in the normal range.

I went to a gastroenterologist and he re-ran the tests. He tested for hepatitis A, B and C, auto-immune hepatitis, hemochromatosis and celiac disease. My levels all remained elevated, at twice and three times the normal range. Three months later, I have just been retested. Some levels went down and others went up.

This specialist wants to see me yearly for monitoring and chalks up my elevated enzyme levels to Alpha-1. Does this seem right? I am 31, an Alpha-1 carrier, and never had any problems except autoimmune thyroid disease.

A: Without direct knowledge of the patient or the tests which have been done, I can’t say for sure if the evaluation is appropriate or not. However, based on what you said, it seems unlikely that the liver test elevations are related to your being a carrier for Alpha-1. About 2 percent of all Americans are MZ for Alpha-1, but 2 percent of all women do NOT have this kind of thing after pregnancy. I would suggest further evaluation, as there is a small chance that another serious condition is present that would need treatment.

Can an Alpha-1 child play contact sports?plus

Q: We found out our oldest son has Alpha-1 (ZZ) when he was about a year old. He is now going on 10 and is interested in sports. Are there limitations that we should consider in letting him play certain sports?

He currently plays baseball but is getting interested in some contact sports, which makes us nervous. Is this out of the question? He also has two younger brothers who love to “roughhouse” with him. Should we be stopping this or can he be a normal kid and wrestle around with them?

A: In general, children with Alpha-1 are unrestricted in terms of sports or other activity.

They should avoid secondhand smoke and should be told not to smoke themselves. Regular play in very dusty environments (haylofts, for example), should be discouraged. Any sport is fine, with regular gear, such as bike helmets.

If a person develops severe liver disease and the spleen becomes enlarged, then the doctor may caution against certain contact sports, but this must be individualized and is based on that particular child’s situation.

Liver disease and an FZ phenotypeplus

Q: I am 52 years old and found out I had liver cirrhosis one year ago. Three months ago I found out I have Alpha 1 Antitrypsin Deficiency (FZ). My doctor has never heard of the FZ genotype and is not sure of the progression of the gene. I have progressed rapidly in my liver failure and now have almost all of the symptoms of liver failure.

I would like information on the FZ phenotype.

A: The FZ phenotype is not generally thought to be associated with liver disease.

I recommend repeat testing; an alpha-1 serum level through the Alpha-1 Lab of Mark Brantly, MD, at the University of Florida; and further consultation with your physician. There is no diet recommendation specific for Alpha-1 liver disease, other than a generally healthful diet and avoiding obesity.

For information on the repeat testing I have suggested, contact the University of Florida lab at 1-866-284-2708 or

I’m sorry I can’t give specific recommendations for your condition. That would require much more specific information, such as a medical exam and detailed medical records.

Frightening abdominal swelling in baby with Alpha-1plus

Q: My nephew has been diagnosed with Alpha-1 (ZZ). Just before he turned three months old, he was hospitalized. He was originally diagnosed with biliary atresia but this was ruled out after a needle biopsy. At this time, he also developed severe abdominal swelling — 54cm — but was released from the hospital despite the swelling. Additional blood tests confirmed Alpha-1.

Approximately three weeks later he was admitted to the hospital again after developing a fever and additional swelling — to 60cm. In addition, he had developed a hernia which led to swelling in the scrotum as well.

While the fever quickly returned to normal and a sample of the fluid in his abdomen was tested and no infection was found, no other explanation for the swelling was identified. An MRI found no noticeable liver damage. He was released with a still swollen abdomen and put on Lasix to reduce swelling.

It has been over a month and the swelling is unchanged. In addition, he has an elevated platelet count. The doctors have offered no hint as to why there is so much swelling, since there is apparently little to no actual liver damage. Do you have any thoughts on what may be causing the excessive swelling? Is there somewhere else that they should be looking for damage?

We would appreciate your thoughts. Thank you.

A: It sounds like this has been very stressful and frightening for you and your family.

Unfortunately, I’m not sure how much help I can be from this distance. Abdominal swelling can have many causes, and while this could be related to the known Alpha-1, there is also the chance of another process going on.

I would have to review the test results directly and likely see the child to really be able to make sense of such a difficult case. Is a liver specialist seeing the child? I would encourage your family to fully discuss each test with his doctors, as that might lead to a clearer picture in everyone’s mind of his problems.

I hope he’s better soon.

Mycobacterium “drug cocktail” calls for liver monitoringplus

Q: I am an asymptomatic ZZ Alpha who has been diagnosed with bronchiectasis. I have no symptoms; this was a follow-up to my brother’s diagnosis as an asymptomatic ZZ when he and his wife were doing genetic testing before having a child. The pulmonologist believes, but does not know at this point (until bronchoscopy) that the pathogen is mycobacterium avium.

I am concerned that the “drug cocktail” given to treat mycobacterium avium bronchiectasis includes two drugs with known liver toxicity.

I have not had a liver profile done yet and do not know if I have Alpha-1-related liver disease. But, regardless, does the Alpha-1 preclude me from getting the drug cocktail needed to kill this bacterium? I am very anxious about this, particularly because I’m only 50 years old, and until two weeks ago, thought I was very healthy.

A: I agree with all of these concerns. Yes, there might be a need for drugs which could be hard on the liver. Other Alphas have received multi-drug treatment for mycobacterium infections, however. Monitoring the liver during treatment will be needed. I suggest seeing a liver specialist before any such treatment begins.

Blood test is the only sure way to diagnose Alpha-1plus

Q: I have Hepatitis C. My allergy doctor did a blood test and I tested positive for Alpha-1. I however went to a lung doctor and he tested my lungs and advised me he thought I was only a carrier. I have gained 20 pounds in the last year, mostly in my abdomen, and I am very concerned.

A: A blood test for Alpha-1 is simple and highly reliable. No lung specialist, however skilled, can tell just by a medical exam or lung function test whether you have Alpha-1 or are a carrier. A follow-up blood test to verify the first result would be reasonable. You can contact the Alpha-1 Foundation Research Registry at the Medical University of South Carolina, which offers a free and confidential finger stick test you can do at home: You can email or call toll-free 1-877-886-2383.

If you have Alpha-1, it would be wise to see a liver specialist about your sudden weight gain in the abdomen, since this can be a symptom of liver disease.

Carriers do NOT become Alphas as they get olderplus

My dad had Alpha I (ZZ) and died 12 years ago from liver damage (according to his doctors, it was because of all the medicine he was on).

I was tested eight years ago and found to be a carrier. My doctor said as long as I don’t smoke, I should be fine. My question is, do the AAT levels ever change over time? Is this something I should get retested?

A: The AAT (alpha-1 protein) levels of a “carrier” do NOT gradually drop over time. A carrier never becomes an Alpha as the years go by, because this depends on the genes you were born with. (A carrier typically has the MZ genotype; an Alpha typically the ZZ genotype.)

Carriers are generally healthy and free of disease. There is some evidence of small increases in risk of lung and liver disease, but this is probably uncommon. (About 2 percent of all Americans are MZ. It’s a big club.)

If you are MZ and have some other kind of liver problem, a liver infection, or alcoholism, for example, there is some concern that the MZ person might get worse liver damage than an MM person. However, this is still being studied.

There is no reason to retest an MZ person. Yes, alpha-1 blood levels fluctuate up and down somewhat in everyone—but the person’s phenotype doesn’t change, so monitoring blood levels really is not needed in most situations.

Don’t know what it means? Ask your doctor firstplus

Q: My recent blood tests came back normal except my Alpha 1 was 2.8L and my Alpha 2 was 13.4L. Is that worthy of further inquiry? I was reading your article pertaining to liver disease and it was very informative. I do have pain in my right side/ back at times and in my left side/ back at times and more frequently.

A: It’s worthy of inquiry—to your doctor! Sorry, these numbers just aren’t enough information to have any meaning. It’s always important to ask your doctor when you have a question about the meaning of a lab test.

Treating high cholesterol in an Alpha-1 carrierplus

Q: What is a safe alternative to take for a high cholesterol reading (total cholesterol 330) if you are a “carrier” (MZ)?

A: Being a so-called carrier, MZ for Alpha-1, is very common. About 2 percent of all Americans are MZ. In general, MZ people are normal and healthy. There are rare situations in which some MZ people seem to have health problems related to carrying the one Z alpha-1 gene, but this is by far the exception and not the rule. No change in medical care is recommended, or needed as far as we know, for MZ people compared to any other healthy person. Therefore, MZ people should take whatever medications and treatments that they need. If the doctor recommends a certain medicine that requires some kind of monitoring, then the monitoring for an MZ person should be the same as for anyone else.

Could sibling stem cells cure Alpha-1 liver disease?plus

Q: I have a son who has developed Alpha-1 liver disease. I am told he will need a transplant eventually. There have been so many stories lately about stem cells from a healthy sibling’s umbilical cord curing genetic disorders. Is that a possibility for Alpha-1 patients?

A: Unfortunately, at present we have no cure for Alpha-1. There is a lot of research going on. We are testing potential treatments in test tubes, in animals, and gathering information from patients through activities like the Alpha-1 Research Registry and the “CLiC” study. In the past there have been trials of experimental treatments for the liver disease in humans, although no such tests are going on now. Techniques to “re-grow” the liver with stem cells or special techniques called gene therapy are being studied, but so far they have never been shown to be effective and safe in humans. Many researchers are working on questions like this, so if we continue to support research, we may have better options in the future.

Is there a diet for liver disease?plus

Q: What is the role of nutrition in Alpha-1 liver disease?

A: In some situations when people have very severe liver problems, doctors restrict salt and protein. This is very individual, and patients must talk to their doctors on a case-by-case basis. But for most people, there is no special “Alpha-1 diet.” It is important to eat a diet moderately low in fat and salt and rich in vegetables, fruits, lean meats, fish, etc. Abstaining from alcohol consumption is important for people with any kind of liver disease. A healthy weight level is also important. Obesity is bad for the liver; if lung or liver disease is severe, it can be a challenge to keep from losing too much weight. Some people may need supplemental feedings, or other special arrangements, if, for example, they are waiting for an organ transplant.

Discuss low blood platelet counts with doctorplus

Q: I am 37 years old and I have Alpha-1. Recently, my doctor found the level of platelets in my blood was too low (around 100,000 instead of at least 150,000). Could this be related to Alpha-1? (In particular with liver-associated complications?) To what extent should I worry about this low level of platelets?

A: Platelets are small blood cells which help with blood clotting. If the liver becomes damaged, from Alpha-1 or any cause, scar tissue can build up. If scar tissue in the liver becomes extensive, this is called “cirrhosis.” Cirrhosis can become so severe that blood flow through the liver becomes partly blocked. Since all of the blood from the intestines and some internal organs goes through the liver on the way to the heart, any blockage in that flow can be a problem.

Sometimes the blood can “back up” into the spleen (another organ in the abdomen) or into the intestines. This is called “portal hypertension.” Portal hypertension can result in swelling of the spleen (“splenomegaly”), bleeding into the stomach or intestines, or fluid accumulation in the abdominal cavity (“ascites”). Another possible result of portal hypertension is that platelets, and sometimes white blood cells, will get stuck in the spleen. There are still plenty in the person’s body, but they are not circulating freely, so tests show a low blood count. Since I don’t know your specific situation, I don’t know if this is what is going on in your case. However, this is a common problem in various kinds of liver disease. I suggest you discuss this with your doctor.

Changes in elevated liver enzyme levels can’t be predictedplus

Q: I am an Alpha, diagnosed SZ, and have raised liver enzyme levels. My questions:

1. Does the fact that I have raised enzyme levels mean that they will continue to rise to the point of serious liver damage, or can they remain stable but high? I have had an MRI and it has shown up clear for scarring, and the liver is a normal size.

2. I am curious how a new liver “cures” the condition. Is it because the liver has a different genetic makeup and thus knows how to produce the correct antitrypsin?

3. I currently have pretty severe pain due to another medical issue. I have been prescribed Codant (which in Ireland is codeine without paracetamol). Will Codant, or indeed Lyrica (active ingredient is pregabalin) cause further damage to the liver? Can you tell me what the ingredients are in Advil, Aleve and Motrin, so that I can make sure that I don’t take similar medicine here in Ireland. I know we call things by different names in Europe and the USA.

A: These basic questions have been addressed in recent replies to questions. I’ll briefly summarize those replies.

1. What will happen to your liver enzyme levels cannot be predicted. Liver disease and scar formation can progress slowly or rapidly, depending on the situation, but we are not able to accurately predict for any individual person, how much progression they are likely to have. That’s why consistent follow-up with a doctor who is familiar with the liver is important for all Alpha-1 patients.

2. Yes, if a person with Alpha-1 gets a liver transplant, then the new liver (because of its genetic makeup) makes the normal type of AAT and releases the normal amount into the blood. Therefore, after a liver transplant, an Alpha will not have worsening lung problems due to Alpha-1. However, a transplant is not really a cure. It is trading one health problem for another; after organ transplants, people need continued medical monitoring, medicines, and follow-up tests for life.

3. It’s very important for you to discuss pain killers with a doctor who understands the liver and Alpha-1. Especially, please talk to your doctor about what constitutes a “non-steroidal anti-inflammatory drug.”

Also, please share the previous posts with your doctor and the doctor can contact me if there are further questions.

Will child develop lung disease after liver transplant?plus

Q: My niece is two years old and we just found out that she has Alpha-1. She already has cirrhosis of the liver and needs a transplant. If the transplant is successful, will she be able to lead a normal life? Or will the disease most likely affect her lungs as well?

A: In normal people, the liver makes very large amounts of normal alpha-1 protein (AAT). The AAT is then released from the liver into the blood. Some AAT is made in other parts of the body, but the liver does about 75%. In Alpha-1, the liver makes an abnormal type of alpha-1 protein that is not released into the blood. The liver is damaged by the buildup of the abnormal AAT, and the lungs are open to damage because there is too little AAT in the blood.

If a person with Alpha-1 gets a liver transplant, then the new liver makes normal AAT and releases the normal amount into the blood. Therefore, after a liver transplant, an Alpha will not have worsening lung problems due to Alpha-1. If it is an adult who already has lung damage, that is generally not reversed, just stabilized. The goal of any organ transplant is for the person to lead a normal life. However, a transplant is not really a cure. It is trading one health problem for another; after organ transplants, people need continued medical monitoring, medicines, and follow-up tests for life. The expectation, though, is that the transplant will provide a much greater quality of life and usually a longer life.

Some questions call for first-hand medical examplus

Q: I am a female ZZ Alpha, 54, with lung, liver and autoimmune disease. My recent liver biopsy showed Stage 2 inflammation, scarring and fatty liver (even though my liver blood work is normal except when taking antibiotics). My hepatologist suggested Ursodiol. The hepatologist said that the scarring is not yet cirrhosis, but my Meld score is around 10 and at 14 they can do transplant evaluation.

My question: Since I have autoimmune disease and inflammation every day, would this make the staging of my liver disease go from 2 to 3 faster? Is there any way of telling how fast the Alpha-1 liver stages go, as opposed to other liver diseases?

2nd Question: I noticed quite a few unfavorable side effects of Ursodiol. Is it important that I take this drug as directed? Would it slow down the progression of the liver disease? If I am in Stage 2, when will Stage 3 begin? I have heard liver staging can be quicker in Alpha-1 patients.

A: These are good questions. Unfortunately, they are really too detailed for this format. I really can’t give personal, medical advice with so little information, no medical records, and most importantly, no firsthand look at the patient! Liver disease and scar formation can progress slowly or rapidly, depending on the situation – but we are not able to accurately predict for anyone just how rapidly their disease will progress. That’s why consistent follow-up with a doctor who is familiar with the liver is important for all Alpha-1 patients. Talk to your doctor about your medication questions. If the answers don’t seem right to you, consider a second opinion.

You are in a situation in which different doctors do different things, and there are no perfect answers. You need to be comfortable with the doctor who is going to help you through this. Ursodiol is commonly used, but yes, some people are limited by its side effects. We think Ursodiol might be helpful in some situations in Alpha-1, but there are no definitive medical studies to prove it is beneficial – so its use tends to vary from doctor to doctor. These are excellent and thoughtful questions, which I suggest you explore fully with your doctor before you determine if you need to consult another source.

High cholesterol uncommon with cirrhosis, but possibleplus

Q: My sister passed away of cirrhosis after being diagnosed with Alpha-1 (SZ). She did not drink alcoholic beverages at all, but she relied on Tylenol a lot, and was on medication for cholesterol, high blood pressure, and allergies. One of the doctors was surprised to learn that she was on cholesterol medicine. He said that people with liver disease rarely have cholesterol problems. Is that true?

A: It is uncommon for adults with liver disease to have high cholesterol, but not impossible. Alpha-1 liver disease is often very slow to develop, so high cholesterol might become a problem before the liver is badly damaged.

What are the dangers of pain relievers for Alphas?plus

Q: What effects does Tylenol/acetaminophen have on someone with Alpha-1? I know taking any medication is hard on your liver, but is there any clinical data available proving or disapproving more damage by Tylenol than other pain relievers (Advil, Aleve)?

A: Acetaminophen (Tylenol) taken as an overdose can hurt anyone’s liver. However, if it is taken in normal doses, according to instructions, it is not harmful to the normal liver and is acceptable for people with Alpha-1 (ZZ or SZ) or carriers (MZ) to take occasionally. In studies with animals with Alpha-1 liver disease, the class of drugs called non-steroidal anti-inflammatory drugs (NSAIDS), which includes ibuprofen, Advil, Aleve, Motrin, and others, was harmful to the Alpha-1 liver. There appears to be a special sensitivity to damage in the Alpha-1 liver from this type of drug. It may cause more of the bad alpha-1 protein to build up in the liver, at least in an animal with Alpha-1. No such studies have ever been done in humans, and they never will be – since it would be unwise and unethical to give an Alpha-1 patient a drug which might hurt them, to see how much harm it would do. These drugs are also harmful to the normal liver in overdose, just as acetaminophen is. Based on this information, I tend to recommend that Alpha-1 patients take acetaminophen (Tylenol) products for occasional pains and fever and avoid the ibuprofen class of drugs. However, not all authorities agree with this. It is important to read labels — because acetaminophen (Tylenol) and ibuprofen (or other NSAIDS) are ingredients in many combination over-the-counter products, and people can mistakenly take them, or overdose unintentionally if they aren’t careful.

Can you inherit Alpha-1 from just one parent?plus

Q: If you inherit a defective gene from each parent, then you actually have Alpha-1. If you only inherit one defective gene from just one parent, you are a carrier. If one parent has Alpha-1, can they pass on the whole thing? Or just the S or the Z? If one parent has an S or a Z gene, does each of the offspring inherit it – or is it just hit or miss if you get it, like eye color, hair color, etc.?

A: Everyone has two Alpha-1 genes; one they get from mom, one they get from dad. When a child is conceived, the child gets one of the parent’s two genes at random. This is random for each conception. Therefore two parents who are both MZ will have a 25% chance with EACH conception of having a ZZ child (there is a 50% individual chance of each parent giving the Z gene, and 50% of 50% is overall 25%). So no, you cannot inherit two Alpha-1 genes from just one of your parents; and yes, it’s completely random (“hit or miss”) whether you get a single S or Z gene from a parent, exactly like eye or hair color.

What liver symptoms justify Alpha-1 testing?plus

Q: What liver symptoms should be present for a physician to order testing of a patient for Alpha-1?

A: Since testing for Alpha-1 involves a simple blood test that poses no physical risk to the patient, many physicians recommend testing any patient with an unexplained problem that might possibly be Alpha-1 – for example, a newborn with “prolonged, obstructive jaundice.” This is NOT the common baby jaundice, the yellow color commonly treated with lights. This would be a more serious kind of jaundice that a doctor might check with a preliminary blood test. Any infant, child or adult with unexplained liver enlargement, cirrhosis (fibrosis or scar tissue in the liver), elevated transaminases (LFTs, or blood tests that measure liver inflammation), or unexplained obstructive jaundice should be tested.

“Unexplained” means there is no evidence of a physical injury to the liver — hepatitis infection, alcoholism, or other significant liver disease – though a person could have Alpha-1 along with any of these conditions. It’s rare to have two liver diseases together, but not impossible. Any adult who has liver cancer, but without another major risk factor like alcoholism, should be tested. Many pediatricians who specialize in the evaluation of children with unexplained poor growth, will often check for Alpha-1 if more common tests yield no explanation.

In addition, any young or middle-aged person with “destructive” lung disease should be tested. This means lung disease that causes permanent scarring to the lungs, not merely asthma – unless the asthma can’t be completely reversed with good therapy. Many lung specialists test all such patients, regardless of age.

Finally, “first-degree relatives” of newly-diagnosed patients should be offered informative counseling and testing, if they wish. This means children, brothers, sisters, and parents. Any more distant relatives who have symptoms like the ones mentioned above should also be offered counseling and testing.

To me, “testing” means an alpha-1 level and a “phenotype” test or “genotype” test. Many doctors will just get the AAT protein level and if normal, go no further. However, this could miss some patients or carriers in certain situations.

The risks to Alphas in alcoholic beveragesplus

NOTE from Dr. Teckman: I’m often unable to give a clear “yes” or “no” response to certain questions – like many tough questions we all face in life. Other physicians might very well give different answers to the two questions below.

Q: For an Alpha (ZZ), what is the risk of liver disease from drinking alcoholic beverages?

A: There is no specific information about the risk of alcohol consumption in an Alpha with the ZZ phenotype. Excessive alcohol use can cause serious liver damage in people with previously healthy livers. Therefore, it is probably prudent to recommend very low, infrequent, or even zero alcohol consumption, even in healthy ZZ Alphas. If liver disease is already present, it’s best to abstain from alcoholic beverages altogether.

Are Alpha-1 carriers at risk for liver disease?plus

Q: Are Alpha-1 carriers (MZ or MS genotype) at risk for developing liver disease?

A: 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 “carriers”. In general, we do not consider carriers 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 carriers. These studies had a number of flaws – the carriers 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 “carrier” 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 carrier. 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, carriers 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 carrier, 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.