Adult Liver Diseases

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Acute Liver Failure: Acute liver failure is a rare and life-threatening condition that occurs when the liver suddenly and rapidly loses its ability to function. It can be caused by a variety of factors, including viral infections, drug toxicity, autoimmune disorders, metabolic disorders, and acute alcohol toxicity.

Symptoms of Acute Liver Failure can include fatigue, jaundice, abdominal pain, nausea and vomiting, confusion, and even coma. If left untreated, it can lead to serious complications, including brain swelling and organ failure. Treatment typically involves hospitalization, intensive care, and supportive measures, such as intravenous fluids and nutrition, to help the liver recover. In some cases, a liver transplant may be necessary. Prevention of Acute Liver Failure involves avoiding exposure to toxic substances, practicing safe sex, and getting vaccinated against Hepatitis A and B. It is also important to follow the recommended dosages of medications and avoid using illicit drugs.

Alagille Syndrome: Alagille syndrome is a rare genetic disorder that causes a buildup of bile in the system due to having too few bile ducts to drain it. It is a condition that affects multiple organs, including the liver, heart, kidneys, eyes, and bones. The condition is most often caused by mutations in the JAG1 gene.

Symptoms of Alagille syndrome may vary but can include jaundice (yellowing of the skin and eyes), pale stools, dark urine, poor weight gain, and severe itching. The condition can also cause heart defects, kidney problems, and skeletal abnormalities. Diagnosis of Alagille syndrome involves a physical exam, blood tests, and imaging studies to assess liver function and check for other signs of the condition. Genetic testing can confirm the diagnosis. Treatment of Alagille syndrome focuses on managing symptoms and complications. In some cases, medication may be used to help reduce itching and improve liver function. Surgery may also be necessary to correct heart defects or bile duct abnormalities.

For more information on Alagille Syndrome, including resources and support, visit https://www.alagillesyndrome.com/

Alcohol-Associated Liver Disease: Alcohol-Associated Liver Disease is a condition that occurs when excessive alcohol consumption damages the liver, leading to inflammation and scarring of the liver tissue. The severity of the disease can range from mild fatty liver to more severe forms such as acute hepatitis and cirrhosis. Alcohol-associated liver disease is one of the leading causes of liver disease worldwide. Chronic heavy alcohol consumption over time can cause liver damage and inflammation, which can progress to more severe forms of the disease if left untreated.

Symptoms may include abdominal pain, fatigue, jaundice, and swelling in the legs and abdomen. Treatment typically involves stopping alcohol consumption and managing symptoms. In some cases, medications may be prescribed to manage complications or underlying conditions. In severe cases, hospitalization may be necessary and liver transplantation may be an option. Prevention of alcohol-associated liver disease involves reduction of or cessation of alcohol consumption and seeking help for alcohol abuse or addiction. If you or someone you love is struggling with an alcohol use disorder, please visit the National Institute on Alcohol Abuse and Alcoholism for more information and resources to get help.

Alpha-1 Antitrypsin Deficiency: Alpha-1 Antitrypsin Deficiency (commonly referred to Alpha-1) is a rare genetic disorder that can lead to lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that is produced in the liver and intended to protect the lungs and liver. AAT was first discovered in 1955 and the first cases of deficiency were described in 1963. A deficiency in AAT can lead to lung damage, eventually resulting in COPD and liver damage, eventually resulting in cirrhosis and even liver failure. 

Alpha-1 is most commonly found in people of European descent and currently there are roughly 100,000 people living with the disease in the United States. There is no cure of Alpha-1 but the symptoms can be managed. Many people with Alpha-1 are unaware that they have it because its symptoms mimic those of common conditions. A simple blood test is required to reach a diagnosis. For more information including patient resources visit the Alpha-1 Foundation.

Autoimmune Hepatitis: Autoimmune hepatitis (AIH) is a chronic disease in which the immune system attacks the liver cells, causing inflammation and damage to the liver tissue. The exact cause of AIH is not fully understood, but it is believed to be an autoimmune disorder, meaning that the body’s immune system mistakenly attacks healthy liver cells as if they were foreign invaders.

Symptoms of AIH may include fatigue, abdominal discomfort, jaundice, and abnormal liver function test results. AIH is typically diagnosed through a combination of blood tests, liver biopsy, and exclusion of other liver diseases. Treatment for AIH involves the use of immunosuppressant medications, which help to reduce inflammation and prevent further damage to the liver. In some cases, a liver transplant may be necessary. Without treatment, AIH can lead to cirrhosis, liver failure, or liver cancer. However, with appropriate treatment, many individuals with AIH are able to manage the disease and lead normal lives.

Biliary Atresia: Typically diagnosed in infants, biliary atresia is a rare condition in which the bile ducts, which carry bile from the liver to the small intestine, are scarred and blocked. This leads to a buildup of bile in the liver, causing liver damage and eventually liver failure.

Symptoms of biliary atresia may include jaundice (yellowing of the skin and eyes), pale stools, dark urine, and failure to thrive (poor growth and development). Biliary atresia is diagnosed through blood tests, imaging studies, and a liver biopsy. Treatment typically involves surgery to remove the damaged bile ducts and create a new pathway for bile flow. In some cases, a liver transplant may be necessary. Early diagnosis and treatment are crucial for the best outcomes in biliary atresia. Without treatment, the condition can lead to liver failure and the need for a liver transplant. For more information, visit BARE, Inc.

Cholangiocarcinoma (bile duct cancer): Cholangiocarcinoma, also known as bile duct cancer, is a type of cancer that originates in the cells lining the bile ducts. The bile ducts are a series of tubes that transport bile from the liver to the small intestine, where it helps in the digestion of fats. Cholangiocarcinoma can occur in any part of the bile ducts, both inside and outside the liver. It is a rare and aggressive cancer that can be difficult to diagnose and treat.

The risk factors for cholangiocarcinoma include chronic inflammation of the bile ducts, primary sclerosing cholangitis, smoking, chronic liver disease, older age, and some inherited conditions such as cystic fibrosis and lynch syndrome. For more information on cholangiocarcinoma click here.

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Drug-Induced Liver Injury: Drug-Induced Liver Injury (DILI) refers to liver damage caused by the intake of certain medications, herbs, or other substances. It is a leading cause of acute liver failure and can range from mild, reversible liver dysfunction to severe liver injury resulting in liver failure. DILI can occur from both prescription drugs and over-the-counter medications, as well as herbal and dietary supplements.

Symptoms may include fatigue, nausea and vomiting, abdominal pain (especially in the upper right quadrant), jaundice (yellowing of the skin and eyes), dark urine, pale stools, itchy skin, and fever. The primary step in managing DILI is discontinuation of the drug that caused injury. Other treatments may include supportive care or managing the symptoms and in severe cases, hospitalization. Prevention includes following prescribed medication dosages carefully, avoiding excessive use of over-the-counter medications like acetaminophen, and using caution when taking herbal supplements, as some may be toxic to the liver. It is always important to inform your healthcare provider about all medications and supplements you are taking.

Gilbert Syndrome: Gilbert Syndrome is a benign liver condition that affects the way the liver processes bilirubin, a substance produced during the breakdown of red blood cells. People with Gilbert Syndrome have higher-than-normal levels of bilirubin in their blood, but the condition is generally harmless and does not require treatment.

Many people with Gilbert Syndrome are asymptomatic. In some cases, individuals may experience mild jaundice (yellowing of the skin and eyes), especially during: physical stress (e.g., illness or infection), fasting or skipping meals, dehydration, intense exercise, and menstrual periods. Gilbert Syndrome is a lifelong condition, but it does not cause liver damage, complications, or an increased risk of other liver diseases. Gilbert Syndrome usually does not require treatment.

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Hepatitis A: Hepatitis A is a highly contagious liver infection caused by the hepatitis A virus (HAV). It is typically spread through the ingestion of food or water contaminated with fecal matter containing the virus or through close contact with an infected person. Unlike other forms of hepatitis, Hepatitis A does not lead to chronic liver disease and is usually self-limiting, resolving within weeks to months.

Symptoms can include fatigue, nausea, vomiting, abdominal pain (particularly in the upper right side), jaundice (yellowing of the skin and eyes), dark urine, fever, and loss of appetite. Most people recover completely within a few weeks, although symptoms can occasionally persist for months. The Hepatitis A vaccine is highly effective and is the best way to prevent infection.

Hepatitis B: Hepatitis B is a viral infection that affects the liver. The hepatitis B virus (HBV) is transmitted through blood or other bodily fluids from an infected person. The virus can cause both acute and chronic hepatitis and can range in severity from a mild illness lasting a few weeks to a serious, lifelong condition that can lead to liver damage or liver cancer.

Symptoms of acute hepatitis B may include fatigue, abdominal pain, loss of appetite, nausea and vomiting, dark urine, and yellowing of the skin and eyes (jaundice). Some people with acute hepatitis B may not experience any symptoms at all.

Chronic hepatitis B can cause ongoing inflammation of the liver, leading to liver damage, cirrhosis, and an increased risk of liver cancer. Chronic hepatitis B may not cause any symptoms until the liver is significantly damaged.

Hepatitis B is diagnosed through blood tests that detect the presence of the virus and measure liver function. Treatment for acute hepatitis B may involve rest, fluid intake, and medication to relieve symptoms. Chronic hepatitis B can be treated with antiviral medications that can help slow or stop the progression of the disease and reduce the risk of liver damage or liver cancer. Hepatitis B can be prevented through vaccination, practicing safe sex, not sharing needles or other drug equipment, and taking precautions to avoid exposure to contaminated blood or bodily fluids.

Hepatitis C: Hepatitis C is a viral infection that affects the liver. The hepatitis C virus (HCV) is transmitted through blood-to-blood contact, typically through sharing of needles or other equipment used for injecting drugs, or from blood transfusions or organ transplants before the introduction of screening measures. HCV can also be transmitted through sexual contact and from mother to baby during childbirth.

Many people with hepatitis C do not experience symptoms until the virus has caused significant liver damage. Symptoms may include fatigue, abdominal pain, nausea, loss of appetite, joint pain, and jaundice (yellowing of the skin and eyes). Hepatitis C can cause both acute and chronic hepatitis, with chronic hepatitis C being the more common outcome. Left untreated, chronic hepatitis C can cause liver damage, cirrhosis, and an increased risk of liver cancer.

Hepatitis C is diagnosed through blood tests that detect the presence of the virus and measure liver function. Treatment for hepatitis C may involve antiviral medications that may cure the infection and prevent liver damage or liver cancer. Treatment can also involve lifestyle changes, such as avoiding alcohol and maintaining a healthy diet. Prevention of hepatitis C involves avoiding exposure to infected blood, such as through not sharing needles or drug equipment, using protection during sexual activity, and avoiding exposure to contaminated blood and blood products. 

Hepatocellular Carcinoma: Hepatocellular carcinoma (HCC) is a type of liver cancer. HCC typically occurs in people with underlying liver disease, such as chronic hepatitis B or C, alcoholic liver disease, or nonalcoholic fatty liver disease. HCC can spread to other parts of the body, and if not diagnosed and treated early, it can be life-threatening. Symptoms of HCC may include abdominal pain, weight loss, fatigue, and jaundice. Treatment options for HCC include surgery, radiation therapy, chemotherapy, and liver transplant, depending on the stage and severity of the cancer.

Intrahepatic Cholestasis of Pregnancy: Intrahepatic Cholestasis of Pregnancy (ICP) is a condition that only occurs during pregnancy and triggers intense itching without a rash. Cholestasis is reduced or stopped bile flow out of the liver, causing elevated bile levels. This build up of bile in the liver eventually enters the bloodstream. The exact cause of ICP is not fully understood, but some risk factors include:

• Personal or family history of cholestasis of pregnancy
• History of liver damage or disease, including hepatitis C and gallbladder stones
• Being pregnant with multiple babies
• Pregnancy at an older age, such as 35 years or older

High levels of bile acids in the blood not only causes complications in the mother, but can put the developing baby at risk as well. Once diagnosed and confirmed, immediate treatment is necessary to minimize impact on the baby. Symptoms of ICP typically disappear rapidly once the mother is post-partum.

To learn more about ICP, including patient stories and resources, visit ICPcare.org. 

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Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): Formerly known as Non Alcoholic Fatty Liver Disease (NAFLD), MASLD is commonly referred to as Fatty Liver Disease. Fatty Liver Disease is a condition in which fat accumulates in the liver cells, leading to liver damage and inflammation. It is often associated with obesity, insulin resistance, and other metabolic disorders, but can also occur in people who do not have these risk factors. MASLD is not related to alcohol consumption and can progress to metabolic dysfunction-associated steatohepatitis (MASH), a more severe form of the disease that can lead to cirrhosis and liver failure.

Symptoms of fatty liver disease may be mild or nonexistent, but can include fatigue, abdominal discomfort, and swelling in the abdomen. Treatment for fatty liver disease involves lifestyle changes such as weight loss, regular exercise, and a healthy diet.

Metabolic Dysfunction-Associated Steatohepatitis (MASH): MASH is a form of MASLD that occurs when there is an accumulation of fat in the liver, leading to inflammation and damage to liver cells. It is a more severe form of MASLD and can progress to cirrhosis and liver failure if left untreated.

MASH can be asymptomatic, or it may present with symptoms such as fatigue, abdominal pain, and jaundice. Treatment for MASH involves addressing the underlying metabolic disorders, such as weight loss and management of diabetes and high blood pressure. In some cases, medications may be prescribed to reduce inflammation and prevent liver damage. Prevention of MASH involves maintaining a healthy weight, following a healthy diet, engaging in regular physical activity, and avoiding excessive alcohol consumption.

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Primary Biliary Cirrhosis (PBC): Primary biliary cirrhosis is a chronic liver disease in which the bile ducts within the liver become damaged and inflamed, leading to the accumulation of bile within the liver tissue. Over time, this can result in scarring and cirrhosis of the liver. The exact cause is not fully understood, but it is believed to be an autoimmune disorder. Primary biliary cirrhosis is more common in women and often presents between 30-60 years of age.

Symptoms may include fatigue, itching, abdominal pain, and jaundice. It is typically diagnosed through blood tests, imaging studies, and a liver biopsy. While there is no cure, treatment may involve the use of medications to reduce inflammation, itch, and slow the progression of the disease. In some cases, a liver transplant may be necessary. 

Primary Sclerosing Cholangitis: Primary sclerosing cholangitis (PSC) is a chronic liver disease in which the bile ducts outside and within the liver become damaged and inflamed, leading to the formation of scar tissue and narrowing of the ducts. This can cause bile to accumulate in the liver, leading to liver damage and eventually cirrhosis.

Symptoms of PSC may include fatigue, itching, abdominal pain, and jaundice. PSC is typically diagnosed through blood tests, imaging studies, and a liver biopsy. Treatment for PSC involves the use of medications to reduce inflammation and slow the progression of the disease. In some cases, a liver transplant may be necessary. With appropriate treatment, many individuals with PSC are able to manage the disease and lead normal lives. However, PSC is a progressive disease, and in some cases, it can lead to liver failure and the need for a liver transplant.

Progressive Familial Intrahepatic Cholestatsis: Progressive familial intrahepatic cholestasis (PFIC) is a disorder that affects the liver’s ability to transport bile, a fluid that helps digest fats, resulting in progressive liver disease.

Symptoms of PFIC typically develop in infancy or early childhood and can include jaundice, itching, poor weight gain, and growth failure. PFIC can also lead to cirrhosis and liver failure, and in some cases, it may be associated with other health problems, such as hearing loss or skeletal abnormalities. Diagnosis of PFIC typically involves blood tests to measure liver function, as well as imaging tests such as an ultrasound or MRI to evaluate the liver. Genetic testing may also be used to confirm the diagnosis. Treatment of PFIC focuses on managing symptoms and preventing complications. This may involve medications to improve bile flow, nutritional support, and in some cases, liver transplant. The long-term outlook for people with PFIC depends on the severity of the condition and the degree of liver damage. With proper management and care, many people with PFIC can lead healthy and productive lives. However, the condition can be life-threatening if left untreated or if it progresses to cirrhosis or liver failure.

For more information on PFIC, including patient/caregiver resources and support, visit https://www.pfic.org/connect-support/

Wilson Disease: Wilson disease is a rare genetic disorder in which the body is unable to properly metabolize copper, leading to an accumulation of copper in the liver, brain, and other organs. This excess copper can cause damage to the liver and nervous system. Symptoms of Wilson disease may include fatigue, abdominal pain, jaundice, tremors, difficulty with movement, and cognitive impairment. Wilson disease is diagnosed through a combination of blood tests, urine tests, and imaging studies. Treatment for Wilson disease involves the use of medications to reduce the amount of copper in the body, such as chelating agents and zinc salts. In some cases, a liver transplant may be necessary. With appropriate treatment, many individuals with Wilson’s disease are able to manage the disease and lead normal lives.

For more information about Wilson Disease, including patient resources and support, please visit https://wilsondisease.org/