Pediatric 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, usually within days or weeks. Acute Liver Failure in children can be caused by a variety of factors, including viral infections, drug toxicity, autoimmune disorders, and metabolic disorders.

Symptoms of Acute Liver Failure can include fatigue, jaundice, abdominal pain, nausea and vomiting, and confusion. If left untreated, ALF can lead to serious complications. Acute Liver Failure is diagnosed through blood tests, imaging studies, and liver biopsy. 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 and getting vaccinated against Hepatitis A and B. It is also important to follow the recommended dosages of medications when administering medication to your child.

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/

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.

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 your child is 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.

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 and typically in children it is passed from mother to baby during childbirth. For more information, please click here.

Hepatoblastoma: Hepatoblastoma is a rare and malignant cancer that is typically found in children 3 years and younger. It originates in the liver’s immature cells and is the most common liver cancer in children. While rare, hepatoblastoma is treatable when diagnosed early, often with a combination of surgery and chemotherapy. 

The exact cause of hepatoblastoma is not well understood, but it is associated with certain genetic conditions, including Beckwith-Wiedemann syndrome, Familial adenomatous polyposis (FAP), Prematurity and low birth weight. Early symptoms can be non-specific but may include abdominal swelling or a noticeable mass in the abdomen, loss of appetite or poor weight gain, nausea or vomiting, jaundice (yellowing of the skin and eyes), fever, fatigue or irritability. Treatment typically includes surgery to remove the cancerous cells, but sometimes chemotherapy is used as well.

Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD/ Fatty Liver Disease): Pediatric metabolic dysfunction-associated liver disease (MASLD) is a condition in which excess fat accumulates in the liver of children. MASLD is closely linked to obesity and other metabolic disorders.

Symptoms of pediatric MASLD can be nonspecific and may include fatigue, abdominal pain, and elevated liver enzymes on blood tests. However, many children with MASLD have no symptoms and are diagnosed incidentally during routine blood tests or imaging studies. Diagnosis of pediatric MASLD typically involves blood tests to measure liver function and evaluate for other potential causes of liver disease. Imaging tests such as an ultrasound or MRI may also be used to evaluate the liver for fat and signs of inflammation. Treatment of pediatric MASLD focuses on lifestyle modifications such as weight loss, a healthy diet, and regular exercise. Close monitoring of liver function and imaging tests may also be necessary to assess disease progression. The long-term outlook for children with MASLD depends on the severity of the condition and the degree of liver damage. With proper management and care, many children with MASLD can lead healthy and productive lives. However, the condition can lead to liver scarring and liver failure in some cases, which may require a liver transplant.

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/