Liver Diseases

The liver is the largest internal organ in the human body and is responsible for many vital functions.  Most importantly, the liver cleans the blood of toxins, gives you energy, and produces bile for digestion. Like any other organ, disease can affect the liver. Liver disease may be caused by poor diet, excessive alcohol consumption, or taking large amounts of medications, as well as being hereditary. To learn more about liver disease, click on the tiles below.

Acute Hepatic Porphyria (AHP, also known as Acute Porphyria) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic (ongoing and sometimes lifelong) pain and other symptoms that interfere in their ability to live normal lives.

There are four types of AHP:

  • Acute Intermittent Porphyria (AIP – makes up ~80% of all cases)

  • Variegate Porphyria (VP)

  • Hereditary Coproporphyria (HCP)

  • ALAD Deficiency Porphyria (ADP)

AHP is a hereditary disease, meaning that it can be passed from parents to children. This can occur if either one or both parents carry the defective gene, depending on the AHP type. Men and women inherit the disease equally as often; however, women tend to suffer symptoms more often than men.

Alagille Syndrome is a genetic condition that causes narrowed and malformed bile ducts in the liver. Bile that cannot flow through the deformed ducts builds up in the liver and causes scarring. The scar tissue prevents the liver from working properly to eliminate wastes from the bloodstream.

What are the different types of alcohol-related liver disease?

Alcohol-related liver disease, as the name implies, is caused by excessive consumption of alcohol and is a common, but preventable, disease. For most people, moderate drinking will not lead to the disease. There are three main types of alcohol-related liver disease:


Fatty liver, also called steatosis, is the earliest stage of alcohol-related liver disease and the most common alcohol-related liver disorder. It is characterized by an excessive accumulation of fat inside liver cells, which makes it harder for the liver to function. Usually there are no symptoms, although the liver can be enlarged and you may experience upper abdominal discomfort on the right side. Fatty liver occurs fairly soon in almost all people who drink heavily. The condition will usually go away if you stop drinking.


Alcoholic hepatitis is an inflammation, or swelling, of the liver accompanied by the destruction of liver cells. Up to 35 percent of heavy drinkers develop alcoholic hepatitis, which can be mild or severe. Symptoms may include fever, jaundice, nausea, vomiting, abdominal pain and tenderness. In its mild form, alcoholic hepatitis can last for years and will cause progressive liver damage, although the damage may be reversible over time if you stop drinking. In its severe, acute form the disease may occur suddenly – after binge drinking for instance – and can quickly lead to life-threatening complications.


Alcohol-related cirrhosis is the most serious type of alcohol-related liver disease. Cirrhosis refers to the replacement of normal liver tissue with nonliving scar tissue. Between 10 and 20 percent of heavy drinkers develop cirrhosis, usually after 10 or more years of drinking. Anything that damages the liver over many years can lead the liver to form scar tissue. Fibrosis is the first stage of liver scarring. When scar tissue builds up and takes over most of the liver, it’s referred to as cirrhosis.

Alpha-1 antitrypsin is a protein made in the liver which plays an important role in preventing the breakdown of enzymes in various organs. Individuals with Alpha-1 have a genetic disorder that prevents their body from creating enough of this protein. This trait must be inherited from both parents (who are, by definition, carriers) in order to cause the disorder.

Your immune system normally attacks bacteria, viruses and other invading organisms. It is not supposed to attack your own cells; if it does, the response is called autoimmunity. In autoimmune hepatitis, your immune system attacks your liver cells, causing long-term inflammation and liver damage. Scientists don’t know why the body attacks itself in this way, although heredity and prior infections may play a role.

A tumor is an abnormal growth of cells or tissues. Some tumors are malignant, or cancerous, Others are benign, or noncancerous.  Noncancerous, or benign, liver tumors are common. They do not spread to other areas of the body, and they usually do not pose a serious health risk. 

One of the many functions of the liver is the production and transmittal of bile. Bile is the fluid necessary for the breakdown of food during the digestive process. The small tubes that conduct bile from the liver to the gallbladder to the intestines are “ducts”. Bile duct cancer (cholangiocarcinoma) is the formation of malignant (cancerous) tumors in these tubes or ducts.

Biliary atresia is a disease of the bile ducts that affects only infants. Bile is a digestive liquid that is made in the liver. It travels through the bile ducts to the small intestine, where it helps digest fats.  In biliary atresia, the bile ducts become inflamed and blocked soon after birth. This causes bile to remain in the liver, where it starts to destroy liver cells rapidly and cause cirrhosis, or scarring of the liver.

Budd-Chiari Syndrome is disorder in which veins carrying blood out of the liver become narrow and/or blocked due to blood clots. In a healthy person, blood normally flows from the intestines to the liver through the hepatic portal vein and then out of the liver through the hepatic veins and into the inferior vena cava, the large vein that flows back to the heart. When the blood cannot flow out of the liver in a normal manner, it backs up within the liver. When Budd-Chiari Syndrome occurs, the backed-up blood creates high blood pressure back to the portal vein. This condition is known as portal hypertension.

Cirrhosis is the scarring of the liver – hard scar tissue replaces soft healthy tissue. It is caused by swelling and inflammation. As cirrhosis becomes worse, the liver will have less healthy tissue. If cirrhosis is not treated, the liver will fail and will not be able to work well or at all.

Crigler-Najjar syndrome (CNS), is a rare, life-threatening inherited condition that affects the liver. CNS is characterized by a high level of a toxic substance called bilirubin in the blood (hyperbilirubinemia).

Bilirubin is produced during the normal process of breaking down of red blood cells. In order to be removed from the body, bilirubin goes through a chemical reaction in the liver where an enzyme called uridine diphosphate glucuronosyltransferase (UGT) converts the toxic form of bilirubin into a soluble form (a process known as “bilirubin conjugation”) that can be eliminated from the body through the bile and into the intestines. 

Galactosemia is an inherited disorder that prevents a person from processing the sugar galactose, which is found in many foods. Galactose also exists as part of another sugar, lactose, found in all dairy products.

Normally when a person consumes a product that contains lactose, the body breaks the lactose down into galactose and glucose. Galactosemia means too much galactose builds up in the blood. This accumulation of galactose can cause serious complications such as an enlarged liver, kidney failure, cataracts in the eyes or brain damage. 

Gilbert Syndrome is a mild genetic disorder in which the liver does not properly process a substance called bilirubin. Bilirubin is made by the break down of red blood cells.

Hemochromatosis is one of the most common genetic disorders in the United States. It is an inherited condition in which the body absorbs and stores too much iron. The extra iron builds up in several organs, especially the liver, and can cause serious damage.

Hepatic Encephalopathy, sometimes referred to as portosystemic encephalopathy or PSE, is a condition that causes temporary worsening of brain function in people with advanced liver disease. When your liver is damaged it can no longer remove toxic substances from your blood. These toxins build up and can travel through your body until they reach your brain, causing mental and physical symptoms of HE.

Hepatitis A is a liver disease caused by the hepatitis A virus (HAV). HAV causes the liver to swell and prevents it from working well.  HAV usually goes away on its own in almost all cases with no serious complications. However, HAV may cause some patients to suffer liver failure.

Hepatitis B is a highly preventable liver disease caused by the hepatitis B virus (HBV). HBV causes the liver to swell and prevents it from working well.

About 95% of adults who are exposed to HBV fully recover within 6 months (acute HBV) without medication. About 5% have HBV all their lives (chronic HBV) unless they are successfully treated with medications. Infants born to mothers infected with HBV are at high risk of developing chronic HBV. Chronic HBV can lead to cirrhosis (scarring) of the liver, liver cancer, and liver failure.

Hepatitis C is a disease caused by a virus that infects the liver.  The virus, called the Hepatitis C virus or HCV, is the leading cause of liver failure and end stage liver disease and is a major cause of liver transplants in the United States.

Hepatitis C has been aptly called the silent epidemic. A person can have the virus for years – even decades — before they experience symptoms and by that time, liver damage has often occurred.

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Hepatorenal Syndrome (HRS) is a life-threatening condition that affects kidney function in people with advanced liver disease.  There are two types:

  • Type 1 (Acute) involves a rapid decline in kidney function and can quickly progress to life-threatening kidney failure. Your kidneys, which are part of your urinary tract, perform a number of vital functions, including filtering your blood to remove waste and extra fluid from your body. Signs of declining kidney function may include a significant reduction in urination; confusion; swelling caused by the buildup of fluid between tissues and organs (a condition known as edema) and abnormally high levels of nitrogen-rich, body-waste compounds in the blood (a condition known as azotemia).
  • Type II involves a more-gradual decrease in kidney function. Type II often leads to an abnormal buildup of fluid in the abdomen (ascites) that is resistant to treatment with diuretics. Sometimes referred to as water pills, diuretics can help rid your body of salt (sodium) and water and lower your blood pressure. People diagnosed with HRS Type II have a longer median survival time than those with Type I.

Intrahepatic cholestasis is a condition which impairs the flow of bile from inside the liver to the small intestine by either slowing or stopping the flow. 

Intrahepatic Cholestasis of Pregnancy (ICP) is a liver disorder which occurs during pregnancy that affects the normal flow of bile. With ICP the bile flow begins to slow down and the bile acids build up in the blood. This results in the woman itching that can vary in severity and type. The itching can be bothersome to severe itching and is often worse at night.  Although it has been reported as early as 5 weeks pregnant, it is more common for it to begin in the third trimester, when hormone concentrations are at their highest levels. 

Progressive familial intrahepatic cholestasis (PFIC) is a group of rare disorders which are caused by a defect in bile secretion and present with intrahepatic cholestasis, usually in infancy and childhood.

Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that affects the liver. People with this condition experience episodes of cholestasis, during which the liver cells have a reduced ability to release bile (a digestive fluid). Episodes generally begin in the late teens or early twenties and may be accompanied by jaundice, severe itchiness, a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. 

Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disorder that causes individuals to have an uncontrolled buildup of fatty material in their cells.  LALD affects the body’s ability to produce an enzyme called lysosomal acid lipase (LAL). This enzyme is needed for the breakdown of fats (lipids) and cholesterol in your cells. When the LAL enzyme is missing or deficient, fats accumulate in organs and tissues throughout the body, primarily leading to liver disease and high “bad cholesterol,” which is linked to cardiovascular disease.

Cancer is the growth and spread of unhealthy cells in the body.

Primary liver cancer is a type of cancer that starts in the liver. Other names for primary liver cancer are hepatoma or hepatocellular carcinoma (abbreviated as HCC).

Secondary liver cancer is a type of cancer that starts somewhere else in the body and spreads to the liver. The medical term for a cancer that has spread is metastaticso secondary liver cancer is also referred to as metastatic liver cancer.

Hepatocellular carcinoma is the most common type of cancer among adults in the USA. Most people with hepatocellular carcinoma have many small clusters of cancer cells called nodules. Some people have only one tumor that gets larger over time. 

Liver cysts are abnormal sacs filled with fluid in the liver. 

The cause of most liver cysts is unknown. Liver cysts can be present at birth or can develop at a later time. They usually grow slowly and are not detected until adulthood.

Some cysts are caused by a parasite, echinococcus that is found in sheep in different parts of the world.

Jaundice is the yellowing of the skin and eyes. It results from having too much bilirubin in the blood. Bilirubin is a yellow substance made from the breakdown of red blood cells.

Most newborns develop jaundice. Jaundice in newborns is usually mild and goes away within one to two weeks. However, babies with jaundice need to be regularly seen by a doctor because severe jaundice can cause brain damage.

The American Academy of Pediatrics (AAP) recommends that every newborn be checked for jaundice before leaving the hospital and three to five days after birth.

Nonalcoholic fatty liver disease (NAFLD) is the build up of extra fat in liver cells that is not caused by alcohol. It is normal for the liver to contain some fat. However, if more than 5% – 10% percent of the liver’s weight is fat, then it is called a fatty liver (steatosis).

Nonalcoholic steatohepatitis (NASH) is the more severe form of NAFLD in which you have hepatitis – meaning swelling or inflammation of the liver – and liver cell damage, in addition to fat in your liver. Inflammation and liver cell damage can cause fibrosis, or scarring, of the liver

Primary biliary cholangitis (PBC) is a chronic liver disease resulting from progressive destruction of the bile ducts in the liver – called the intrahepatic bile ducts.

Bile produced in your liver travels via these ducts to your small intestine where it aids in the digestion of fat and fat-soluble vitamins (A, D, E and K). When the ducts are destroyed, bile builds up in the liver contributing to inflammation and scarring (fibrosis).

Eventually this can lead to cirrhosis and its associated complications, as scar tissue replaces healthy liver tissue and liver function becomes increasingly impaired.

Primary sclerosing cholangitis (PSC) is a chronic, or long-term, disease that slowly damages the bile ducts. Bile is a digestive liquid that is made in the liver. It travels through the bile ducts to the gallbladder and the small intestine, where it helps digest fats and fatty vitamins.

In patients with PSC, the bile ducts become blocked due to inflammation and scarring or fibrosis. This causes bile to accumulate in the liver, where it gradually damages liver cells and causes cirrhosis, or fibrosis of the liver. As cirrhosis progresses and the amount of scar tissue in the liver increases, the liver slowly loses its ability to function. The scar tissue may block drainage of the bile ducts leading to infection of the bile.

PSC advances very slowly. Many patients may have the disease for years before symptoms develop. Symptoms may remain at a stable level, they may come and go, or they may progress gradually. Liver failure may occur 10-15 years after diagnosis, but this may take even longer for some PSC patients. Many people with PSC will ultimately need a liver transplant, typically about 10 years after being diagnosed with the disease. PSC may also lead to bile duct cancer. Endoscopy and MRI tests may be done to monitor the disease.

Reye syndrome is a rare illness that affects all bodily organs but is most harmful to the brain and the liver. It occurs primarily among children who are recovering from a viral infection, such as chicken pox or the flu. It usually develops a week after the onset of the viral illness but can also occur a few days after onset. Liver-related complications of Reye syndrome include fatty deposits, abnormal liver function tests, and poor blood clotting and bleeding caused by liver failure.

Type I glycogen storage disease (GSD I) is an inherited genetic disorder which causes the deficiency of one of the enzymes that work together to help the body break down the storage form of sugar (glycogen) into glucose, which the body uses to keep blood sugar stable when a person is not eating.  

After we eat, excess glucose is stored in the liver as glycogen to maintain normal glucose levels in our body. In GSD I, the enzyme needed to release glucose from glycogen is missing. When this occurs, a person cannot maintain his or her blood glucose levels and will develop hypoglycemia (low blood sugar) within a few hours after eating. The low levels of glucose in the blood of these individuals often result in chronic hunger, fatigue, and irritability. These symptoms are especially noticeable in infants.

Since people with GSD I are able to store glucose as glycogen but unable to release it normally, stores of glycogen build up in the liver over time and cause it to swell. The liver is able to perform many of its other functions normally, and there is no evidence of liver failure. The kidneys also become enlarged because of increased glycogen storage.

Wilson Disease is an inherited condition that causes the body to retain excess copper. The liver of a person who has Wilson Disease does not release copper into bile as it should. As the copper builds up in the liver, it begins to damage the organ.