Download Liver Function and Alpha-1 – An Overview as a PDF.

To diagnose Alpha-1, first an AAT level test is done.  Alphas have a low level of AAT in the blood. If your blood level is low, then genetic tests are needed to find out which abnormality is present in the AAT gene. If you don’t have a confirmed diagnosis of Alpha-1, ask your health care practitioner to test you.

AAT levels and your liver function

Your liver makes large quantities of Alpha-1 antitrypsin protein (AAT) and releases it into the blood. People who carry two abnormal genes for Alpha-1 produce an abnormal AAT protein. (The abnormal genes that can cause liver disease are usually “Z” genes. The “M” gene isn’t abnormal.)

Your liver cells can’t release abnormal AAT protein. The AAT builds up in the liver, causing low levels of AAT in the blood. Those low levels cause lung damage in Alpha 1. And, the buildup of Z protein in the liver causes liver damage.

Since most of the research into Alpha-1 liver disease has been performed on the Z protein, we will use Z as the basis for this guide. There are many other types of AAT gene variants that can cause Alpha-1. Some may have slightly different mechanisms.

Key learnings:

• Lung damage in Alpha 1 appears to be directly related to a low blood level of AAT
• A buildup of abnormal AAT protein in the liver causes liver damage

To understand how Alpha-1 affects your liver, it helps to understand how your liver functions under normal conditions.

What does normal liver function look like?

Synthetic function: It’s your body’s filter and distribution center.

Your liver makes many proteins and other substances your body needs to function. It also makes many components of the liquid, non-cellular portion of your blood. These substances help with:

• normal blood clotting
• getting energy to your body when you exercise or fast
• the distribution of salts, fluid, and nutrients through your bloodstream

Digestive Function: It helps you get nutrients from food.

Blood passes through your liver when it leaves your intestines. Nutrients from food are processed, stored, and distributed to other parts of the body.

Your liver also produces a substance called bile, which is stored in your gallbladder. When you eat, the bile drains into your intestine through the bile duct. It mixes with food to help with fat digestion and nutrient absorption.

Most of the bile moves into your blood, which transports it back to your liver. Your liver cells actually recycle the bile, for future use. Bile left behind in your intestine gives your stool its brown color.

Your liver has its very own unique blood supply called the “portal circulation.” This carries blood from the intestines and stomach to the liver and spleen. Portal circulation is a factor in some liver diseases.

Excretory Function: It’s a waste-removal system.

Your liver helps remove waste from the body by

• Cleaning toxins from the food you eat as blood from your intestines passes through it
• Processing some wastes into useful substances.
• Transferring other wastes into bile, which drains into the intestine and passes out in your stool.
• Clearing some drugs and medicine from your bloodstream, sending them out of your body in bile or urine.

For more in-depth information on this topic, please visit the Big Fat Reference Guide (BFRG). If you are enrolled in AlphaNet’s Subscriber Portal, you can access the BFRG here.

Download Liver Function and Alpha-1 – An Overview as a PDF.

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Newborns with severe liver problems are often treated in a hospital setting. But, many children and adults with milder liver disease receive outpatient care after their initial diagnosis.

Download Outpatient Care for Alpha-1 Liver Disease as a PDF.

Your initial outpatient visit after a diagnosis of Alpha-1-related liver disease should focus on evaluating and treating existing problems and preventing new complications. Your doctor will do a thorough medical history and a physical exam, and order some tests.

If your physical exam reveals issues like low weight, poor childhood growth, or signs of abnormal blood flow (portal hypertension), they may order other tests. They’ll also prescribe vitamins or other strategies to help you get the calories and nutrients you need.

If you haven’t gotten hepatitis A and B vaccines, you’ll start getting these shots at this visit. Your doctor will check for signs of lung disease since Alpha-1 increases your risk for it.

Outpatient care — follow-up visits

Once your doctor has a clear picture of your liver health, they’ll make a plan for regular monitoring. If they find problems, they can refer you to a specialist.

Your doctor will do basic liver blood tests once a year, for

• AST/ALT
• Bilirubin
• Alkaline phosphatase (Alk phos)
• GGT
• LDH
• PT/PTT
• Albumin

Every few years, you’ll need specialized tests for liver cancer. Your risk is small, but regular testing may protect you in the long run.

What if you have more severe liver disease?

If you show signs of more severe liver disease, you should see a liver specialist with specific knowledge of Alpha-1. They’ll monitor you closely for signs of liver disease.

For more in-depth information on this topic, please visit the Big Fat Reference Guide (BFRG). If you are enrolled in AlphaNet’s Subscriber Portal, you can access the BFRG here.

Download Outpatient Care for Alpha-1 Liver Disease as a PDF.

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Download Targeted Treatment for Alpha-1 Related Liver Problems as a PDF.

Targeted treatment for poor digestive function

Ensure proper nutrition.

Treatments for babies and children focus on ensuring normal growth and nutrition. If oral feeding is an issue, they may need a feeding tube. Poor growth and problems with oral feedings in infants with Alpha-1 are common. They even occur in infants without serious liver problems.

Boost fat digestion.

If you can’t digest fat, you may lack critical vitamins. This can lead to major health problems.

Targeted treatment for poor excretory function

Stop severe itching.

Low bile flow makes life unpleasant, because it causes severe itching. That can have a big impact on sleep, school and work, and quality of life.

Treatments include:

• Antihistamines to block itching
• Oral medicines to remove excess bile
• Drugs to increase bile flow

Reduce ammonia build-up.

Severe liver damage causes waste products to build up in your blood. This may make you feel sleepy and confused. But, you can take medicine to flush waste products from your intestines.

Targeted treatment for poor synthetic function

Reduce fluid buildup.

Low blood albumin levels may lead to fluid build up and swelling. When it happens in your belly, it’s called ascites.

Your healthcare practitioner may recommend a range of treatments to reduce fluid buildup:

• A low-salt diet. (Not recommended for children.)
• Drugs to remove excess fluid from your body (diuretics)
• Draining the fluid with a needle (paracentesis)
• IV albumin (injecting albumin into the blood)

Boost blood clotting.

Your liver makes many proteins, including some clotting proteins. When you have liver disease, you may have low levels of these clotting proteins. If your clotting issues stem from poor digestion, taking vitamin K may help.

Targeted treatment for cirrhosis & portal hypertension

Some Alphas with cirrhosis and portal hypertension live normally for decades without other health problems. However, others may have swelling and fluid build-up (ascites). We discussed treatment for those symptoms earlier.

Avoid or limit certain drugs.

Patients with portal hypertension should avoid aspirin, acetaminophen, ibuprofen, and other non-steroidal anti-inflammatory drugs (NSAIDS). These drugs may lead to serious bleeding in liver disease patients. If you have mild to moderate liver disease, talk to your healthcare practitioner. You may be able to take small doses.

Reduce severe bleeding.

Portal hypertension (high blood pressure in the portal vein) may lead to severe bleeding from the esophagus (the tube connecting your throat and stomach), stomach, intestines, or rectum.

Treatments include:

• Endoscopic surgery (inserting a flexible tube with a camera)
• Medicine (oral and IV)
• Blood transfusions
• Shunt surgery
• Transjugular intrahepatic portosystemic shunt (TIPS)

Targeted treatment for infections

Chronic liver disease can weaken your immune system. Therefore, your healthcare practitioner should watch for signs of infection. Call your healthcare practitioner if you have a fever with any of these other symptoms:

• abdominal pain
• vomiting
• diarrhea
• bleeding
• jaundice

Liver disease patients can develop severe infections. They may occur in the blood, liver, or built-up fluid in the belly. Your healthcare practitioner may treat these infections with oral or IV antibiotics.

For more in-depth information on this topic, please visit the Big Fat Reference Guide (BFRG). If you are enrolled in AlphaNet’s Subscriber Portal, you can access the BFRG here.

Download Targeted Treatment for Alpha-1 Related Liver Problems as a PDF.

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• You don’t feel well.
• Your health has changed.
• You’re concerned about a specific problem or symptom.
• You’re expecting a child, and are concerned about genetic risks

Download Seeing Your Healthcare Practitioner About Alpha-1 Liver Disease as a PDF.

Whatever your reason for seeking medical care, knowing what to expect can help your first visit go smoothly.

Typically, your first visit will include a medical history, a physical exam, and some lab tests. These will help determine if there’s a problem with your liver function.

First, your doctor will take your medical history

Your doctor usually starts by checking your health history for signs of liver problems that may have gone unnoticed. They’ll start by asking about your health — and the health of family members. They’re looking for things like:

• Jaundice (yellow skin and eyes) as an infant, child, or adult
• Surgeries or hospitalizations
• Gallstones or kidney stones
• Blood transfusions
• Serious injuries
• Significant health events

Risk factors for liver disease

During your visit, your doctor will review risk factors that can have a big influence on liver health, like

• cancer
• immune diseases
• alcohol and drug use
• exposure to toxic chemicals at work
• medicines, herbs, and dietary supplements
• exposure to Hepatitis A, B, or C

Note: They’ll also ask if you’ve gotten vaccinations for Hepatitis A and B

Next, your doctor will ask about symptoms

Your doctor will want to know about specific symptoms that point to liver problems:

• Diarrhea: Common in adults and children with abnormal bile flow and fat digestion.
• Itching: Common in patients with significant liver disease. When your liver doesn’t remove waste products from the blood, they build up within your skin and cause itching.
• Abdominal pain, indigestion, or vomiting: Common in patients with liver disease.
• Unusual bleeding: May be related to poor vitamin K absorption or poor liver synthetic function.
• Sleepiness or lack of alertness: May be caused by “portal hypertension,” which is a type of high blood pressure in the portal vein.
• Blood in vomit or stool: May be caused by “portal hypertension,” which is a type of high blood pressure. It happens when scar tissue in your liver disrupts blood flow between your intestine and your liver. Other symptoms of portal hypertension include a swollen, bloated belly.

Other ways Alpha-1 affects your body

If your liver is unhealthy, your body may not get the nutrients it needs. This affects your skin and hair. Cuts and scrapes may take a long time to heal. Your hair may be dry or dull.

Your doctor can order lab tests to assess your nutritional status. They can also take key measurements to assess whether you’re getting the nutrients you need, including:

• Height and weight
• Body fat percentage
• Lean muscle mass
• Body Mass Index (BMI)

Alpha-1, alcohol, and your liver:  Any history of potential liver problems will include questions about how much alcohol you consume. Heavy drinking is the leading cause of liver problems in the world.

Finally, your doctor will give you a physical exam

During your physical exam, your doctor will look for specific signs of liver disease. These include:

Rashes and signs of scratching: As mentioned earlier, the build-up of waste in the skin often causes itching.

Jaundice: A build-up of a waste product called bilirubin can give your skin and eyes a yellowish color. Newborns often have jaundice that’s unrelated to Alpha-1 liver disease. Their livers aren’t mature enough to handle the bilirubin caused by the breakdown of red blood cells. If your baby is born with jaundice, there are tests to find out what’s causing it.

Clusters of veins: Some patients with liver disease have unusual clusters of veins on their skin, but very few other symptoms. Portal hypertension can also cause large, blood-filled veins near the belly button.

Swelling in the feet and hands: Liver problems may cause abnormal fluid and salt retention. This may lead to swelling of the hands and feet.

Other signs of liver disease

A change in heart and lung function: Liver-related problems can affect both your heart and lungs.

Enlarged or painful liver: Your doctor can learn a lot about your liver health by examining your abdomen. They can feel if it’s gotten bigger. It may be painful to the touch or feel rough through the skin. It may be harder than normal or have an unusual shape. Any of these findings might be a sign of liver disease.

A swollen abdomen: Your abdomen may be swollen for a number of reasons. Abnormal blood flow due to portal hypertension may cause your spleen to swell. Fluid, called ascites, can also build up in your abdomen. Ascites are a sign of pretty severe liver disease. Your doctor can feel it during your physical exam.

Hemorrhoids: Enlarged and painful blood vessels around your anus and rectum may point to portal hypertension.

After taking your medical history and doing a physical exam, your doctor will most likely order blood tests. Doing so will help them get a complete picture of your liver health.

For more in-depth information on this topic, please visit the Big Fat Reference Guide (BFRG). If you are enrolled in AlphaNet’s Subscriber Portal, you can access the BFRG here.

Download Seeing Your Healthcare Practitioner About Alpha-1 Liver Disease as a PDF.

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Download Liver Transplant – Who Should Get One and Why as a PDF.

You may have heard about “living-related donor” transplants. In these procedures, relatives donate a piece of their liver. This type of transplant doesn’t work well for people with Alpha-1 for a number of reasons:

1. Alpha-1 is a genetic disease, so close relatives may share the condition.
2. Most centers won’t transplant a liver from an Alpha-1 related donor. They’re concerned that the liver will be at increased risk of injury in the future. And, the donor might also be at increased risk of liver disease.

Most people with Alpha-1 get their new livers from an unrelated organ donor, once the donor has been declared brain-dead.

Preparing for a liver transplant

Your body’s immune system sees the transplanted organ as a foreign “invader,” and it may attack it. There are a number of things that must be done to help your new liver survive and thrive.

First, tests must be performed to ensure that your cells and blood type are a good match to the donor’s. Next, you’ll have to take powerful medicines to lower your immune system. This is intended to prevent your body from rejecting your new liver.

Of course, a weak immune system can put you at risk of serious infections. You’ll have to be careful for the rest of your life.

Liver transplants save lives

Successful liver transplantation can provide decades of healthy life. Plus, your new, healthy liver makes normal quantities of normal AAT. Essentially, liver transplantation cures Alpha-1! However, you’ll still have abnormal AAT genes. That means you can pass them to any future children.

So, if liver transplants are so great, why doesn’t everyone with Alpha-1 have one? There are several reasons.

1. There aren’t enough donor livers available.
2. Liver transplants are complicated surgeries and carry a high risk of death.

Waiting for a liver transplant

As mentioned above, needing a liver transplant and getting one are two different things. To start the process, you must be evaluated at a liver transplant center.

At the center, they’ll test your bilirubin, PT, and creatinine to assess the severity of your liver disease. Based on the results, they’ll assign you a Model for End-State Liver Disease (MELD) score. Your score will fall between 6 and 40, with 6 being less ill and 40 being gravely ill. Children get Pediatric End-stage Liver Disease (PELD) scores.

When a donor liver becomes available, centers look at a range of criteria to decide who gets it. The patient with the highest MELD or PELD score and a good tissue match usually receives the liver. However, “Status 1 patients,” whose liver has suddenly failed may be moved to the top of the transplant list.

What might prevent a transplant?

There are several things that can prevent you from receiving a liver transplant, even if your liver disease is severe. You can’t have a transplant if you have:

• cancer in another part of your body
• serious heart, lung, or nerve disease
• active alcohol or illegal drug abuse
• an active, severe infection
• problems following your treatment plan

And, since people with Alpha-1 liver disease may also have lung disease, this may be a roadblock to getting a liver transplant.

For more in-depth information on this topic, please visit the Big Fat Reference Guide (BFRG). If you are enrolled in AlphaNet’s Subscriber Portal, you can access the BFRG here.

Download Liver Transplant – Who Should Get One and Why as a PDF.

The post Liver Transplant: Who Should Get One and Why appeared first on AlphaNet.

Download Alpha-1 Liver Disease – Causes, Treatments, and More as a PDF.

Silverman et al. NEJM

Do all Alphas develop liver disease?

Some Alphas never develop liver disease. Sometimes these people have an unusual form of Alpha-1 — the Null deficiency. We assume they don’t get a buildup of abnormal AAT protein because they don’t make AAT in their livers. Other individuals seem to handle the AAT polymers without getting scarring in the liver.

About 2% of children born with Z-type Alpha-1 develop liver failure and need a liver transplant before age two. Research suggests their liver’s inability to handle protein build-up leads to damage.

Most infants born with two Z genes have abnormal liver function tests during this same time period. But, if they don’t develop severe disease, their tests usually return to normal as they get older.

Adults and Alpha-1 liver disease

Most adults with Alpha-1 won’t develop significant liver disease. If liver disease does occur, it is often very mild and chronic. It may remain stable for years. However, some adults develop liver disease suddenly and quickly need a liver transplant. So far, there’s no way to predict whether you’ll have mild or severe liver disease.

Studies have shown that people over 65 with Alpha-1 have liver scarring that can be seen under the microscope. This is true even when their liver function tests are normal. This suggests that all or most people with Alpha-1 have ongoing, low levels of liver injury throughout their lives.

Fortunately, your liver can tolerate this type of injury and still function normally.

We don’t know all the reasons why some people have higher levels of liver damage. But we know that environmental factors and genetic factors play a role.

Treatments for AAT associated liver disease

There is no specific treatment for Alpha-1 liver disease. But there are many treatments that help the outcome of all liver diseases that can be used. They focus on preventing complications from chronic liver disease. And, if liver problems arise, they treat them quickly.

Lifestyle risk factors

Obesity is the #1 lifestyle risk factor for liver disease. The “metabolic syndrome” occurs when obesity causes diabetes, high blood pressure, and increased cholesterol. The result is a fatty liver that is not tolerated well in Alpha-1.

What does the future hold?

This is an exciting time for new drug therapies that target Alpha-1 liver disease. Drugs are in clinical trials that stop AAT production in the liver. Other drugs help to get AAT out of the liver cell. At the present time, these treatments are only available through clinical trials.

Researchers are also working on diagnostic tests to help detect liver damage earlier.

For more in-depth information on this topic, please visit the Big Fat Reference Guide (BFRG). If you are enrolled in AlphaNet’s Subscriber Portal, you can access the BFRG here.

Resources

For additional information about Alpha-1 and Alpha-1-related disease check out these resources:

Alpha-1 Foundation
www.Alpha1.org
877-228-7321

AlphaNet
www.bfrg.alphanet.org
800-577-2638

American Liver Foundation
www.liverfoundation.org
866-455-4837

UNOS – United Network for Organ Sharing
unos.org
800-292-9548

NIDDK – National Institute of Diabetes and Digestive and Kidney Diseases
www2.niddk.nih.gov
301-451-4524
800-891-5389 (digestive)

Download Alpha-1 Liver Disease – Causes, Treatments, and More as a PDF.

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Download Lab Tests for Liver Health and Function as a PDF.

General lab tests for liver health

There are many diagnostic tests that provide general information about liver health — or point to specific diseases. Let’s look at some common blood tests for liver health.

AST and ALT (formerly called SGOT and SGPT) levels: If your healthcare practitioner orders a panel of liver function tests (LFTs), it will include these two tests. AST and ALT are chemicals or enzymes found normally within liver cells. They usually leak into your blood very slowly. But, if your liver cells are irritated or damaged, they’ll leak out faster. You’ll have more AST and ALT in your blood. The higher the level, the more injury to your liver.

Babies with Alpha-1 may have higher levels of AST and ALT. But, in most cases, the level returns to normal by the time they’re two years old. Adults with Alpha-1 commonly have elevated levels of AST and ALT. In general, these tests do not suggest major problems of scarring in the liver unless other tests are also abnormal. If the liver injury happens slowly over time, it may go unnoticed.

Alkaline phosphatase (alk phos) and gamma-glutamyl transferase (GGT) levels: These chemicals are normally found within the cells of the bile ducts. These are tubes that drain the bile from the liver to the intestine. A higher level of these chemicals can be a sign of injured bile duct cells.

Platelet count: Low platelet count is often the first abnormal test for Alphas with liver diseases. It’s part of the complete blood count (CBC).

Liver disease can affect many other organs of your body. Your healthcare practitioner may order a test to look at other body systems. This might include:

Alpha-fetoprotein: Some patients with cancer, including liver cancer, have high levels of alpha-fetoprotein in their blood. Since Alpha-1 is a risk factor for liver cancer, this test may help catch it early.

Tests of specific liver functions

While some tests look at your general liver function, the following lab tests look at specific functions of the liver.

Lab tests for synthetic function

These tests usually measure the blood levels of substances that your liver produces.

Albumin: This protein helps move salts and nutrients throughout your body.

INR– this is a measure of blood clotting that can uncover liver problems. Some drugs affect INR, so tell your healthcare practitioner about any drugs you take regularly.

Lab tests for digestive function

Bile from your liver is critical for the normal digestion and absorption of fat-soluble vitamins. Measuring levels of fat-soluble vitamins in your blood is a good test of your liver’s digestive function. It can show if you’re getting the nutrients you need. Healthcare practitioners sometimes look at blood levels of vitamins A, D, and E, especially in children.

Patients with serious liver disease often have low levels of vitamin K, another fat-soluble vitamin. Vitamin K plays a key role in blood clotting. If you are very low in vitamin K, you may have serious bleeding. But, a milder lack of vitamin K may only show up on INR test results.

Lab tests for excretory/detoxification function

Your liver helps your body rid itself of toxins. So, testing your blood for levels of specific waste products can uncover liver problems.

Blood bilirubin: Measuring blood bilirubin levels is a common method used to assess liver function. Your liver eliminates bilirubin through bile.

There are several types of bilirubin in your blood. Levels of certain types will be too high if your liver isn’t functioning normally. Other types of blood bilirubin aren’t related to liver function.

Ammonia: High ammonia levels can be a sign of severe liver disease. When your body digests proteins, it releases ammonia into the blood. Normally, your liver breaks the ammonia into less toxic compounds. But, a failing liver will allow ammonia to move into your bloodstream. If your ammonia levels get too high, you may start showing symptoms. These include unusual sleepiness, changes in thinking and personality, and tremors (shaking).

Other diagnostic tests

Your healthcare practitioner may order other types of tests to get a full picture of your liver health.

CT scans (“CAT” scans) or ultrasounds: These imaging tests create pictures of your liver. They can reveal birth defects, gallstones, and liver tumors. Unfortunately, these tests are not very good at measuring the amount of liver scar or fat unless the changes are advanced.

Endoscopy: An endoscopy can help your healthcare practitioner see abnormal blood vessels associated with portal hypertension. They can also reveal other intestinal problems caused by liver disease. A special endoscopic procedure, called ERCP, can be used to evaluate the bile ducts and even treat gallstones.

During an endoscopy, a technician passes a flexible, lighted tube equipped with a mini TV through your mouth or rectum. Then, they can directly examine your stomach or intestines.

Biopsy: Liver biopsies are used to obtain a sample of liver cells to examine under a microscope. After sedating you, the technician inserts a needle directly into your liver. Then, they remove a sample about the size of a toothpick. Biopsies may be valuable for understanding your liver problems. However, it’s an invasive procedure, and there is a small but real risk of complications.

A liver biopsy is the most accurate way to diagnose Alpha-1 liver disease. Researchers are studying other kinds of tests to see if they can take the place of liver biopsy.

For more in-depth information on this topic, please visit the Big Fat Reference Guide (BFRG). If you are enrolled in AlphaNet’s Subscriber Portal, you can access the BFRG here.

Download Lab Tests for Liver Health and Function as a PDF.

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