Liver Disease and Disorders

We understand it can be overwhelming to have a child with a liver disease or disorder and you might not know where to start. At the CHOC Children’s liver clinic, our board-certified and pediatric-trained specialists  provide comprehensive care for a full spectrum of liver diseases.

We treat your child with a multidisciplinary team that includes gastroenterologists, dietitians and surgeons, if needed, to treat and manage liver disease so that your child can get back to being a kid.

Understanding Liver Disease

Liver diseaseLiver disease refers to any damage or disorder that limits or reduces the function of the liver. It can be genetic (inherited) or acquired (something that develops because of infection, unhealthy behaviors or habits, or exposure to certain toxins).

The liver is located in the upper right-hand portion of the abdominal cavity, beneath the diaphragm and on top of the stomach, right kidney and intestines. It has two main lobes, both of which are made up of eight segments. The segments are made up of a thousand lobules. The lobules are connected to small ducts that connect with larger ducts to ultimately form the common hepatic duct. The common hepatic duct transports bile produced by the liver cells to the gallbladder and duodenum (the first part of the small intestine).

The liver’s main jobs are to control most chemical levels in the blood and excrete a product called bile. Bile helps to break down fats, preparing them for further digestion and absorption. All of the blood leaving the stomach and intestines passes through the liver. The liver processes this blood and breaks down, balances and creates nutrients for the body to use. It also metabolizes drugs in the blood into forms that are easier for the body to use.

When the liver has broken down harmful substances, they are excreted into the bile or blood. Bile by-products enter the intestine and ultimately leave the body in the feces. Blood by-products are filtered out by the kidneys and leave the body in the form of urine.

What We Treat

At CHOC Children’s we work with patients and their families to diagnose and treat a variety liver diseases including:

Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is an inherited condition that can cause liver and lung disease. The liver makes a protein called alpha-1 antitrypsin that goes into the bloodstream. Alpha-1 antitrypsin deficiency is one of the most common genetic causes of liver disease in children.

Alagille Syndrome

Alagille syndrome – also known as Alagille-Watson syndrome, syndromic bile duct paucity and ateriohepatic dysplasia – is an inherited disorder associated with liver, heart, eye and skeletal abnormalities. Liver problems can include cholestasis (stoppage of bile flow out of the liver), jaundice (yellow skin color) and too few bile ducts.

Biliary Atresia

Biliary atresia is a chronic, progressive liver problem that becomes evident shortly after birth. In biliary atresia, bile ducts in the liver are blocked. When the bile is unable to leave the liver through the bile ducts, the liver becomes damaged and many vital body functions are affected. Learn more about biliary atresia.

Choledochal Cysts

A choledochal cyst is a congenital anomaly of the duct that transports bile from the liver to the gall bladder and small intestine. The liver produces bile to help digest food. When a child has a choledochal cyst, a swelling of that duct, bile may back up in the liver. This can cause liver problems or inflammation of the pancreas (pancreatitis) because it blocks the main duct from the pancreas gland to the intestine.

Cirrhosis

Cirrhosis is damage to the liver that decreases blood flow through it over time. As the normal liver tissue is lost, nutrients, hormones, drugs and poisons are not processed by the liver as they should. In addition, protein production and other substances produced by the liver are decreased or stopped all together. Learn more about cirrhosis.

Fatty Liver Disease

Someone who has fat deposits in their liver has fatty liver disease. These deposits may keep the liver from doing a good job of removing toxins from your blood. Learn more about fatty liver disease.

Hepatitis

Hepatitis is an inflammation of the liver and can result in liver cell damage and destruction. Hepatitis is a concern because it often originates from a virus and can be spread to others. Learn more about hepatitis.

Metabolic Liver Disease

Two main metabolic disorders affect the liver:

  • Hemochromatosis (also called iron overload disease). This disease is characterized by the absorption of too much iron from food. Instead of secreting the excess iron, the iron is stored throughout the body, including the liver and pancreas. The excess iron can damage these organs. Hemochromatosis is a hereditary disease that can lead to liver disease, liver failure, liver cancer, heart disease and diabetes.
  • Wilson disease. This disease is characterized by the retention of too much copper in the liver. Instead of releasing the copper into the bile, the liver retains the copper. Eventually, the damaged liver releases copper into the bloodstream. This hereditary disease can cause damage to the kidneys, brain and eyes, and can lead to severe brain damage, liver failure and death.

Primary Sclerosing Cholangitis

Bile ducts serve as passageways to drain bile from the liver. In primary sclerosing cholangitis (PSC), inflammation causes the bile ducts to become too narrow and eventually they are blocked completely.

 

Tests Used to Diagnose Liver Disease

In addition to a physical examination and medical history when diagnosing liver disease, a child’s doctor may request:

Common Liver Disease Symptoms

When diagnosing liver disease, the doctor looks at the patient's symptoms and conducts a physical examination. Common symptoms of liver disease in children include:

Jaundice is a yellow discoloration of the skin and whites of the eyes due to abnormally high levels of bilirubin (bile pigment) in the bloodstream. Urine is usually dark because of the bilirubin excreted through the kidneys. High levels of bilirubin may be attributed to inflammation, or other abnormalities of the liver cells, or blockage of the bile ducts. Sometimes, jaundice is caused by the breakdown of a large number of red blood cells, which can occur in newborns. Jaundice is usually the first sign, and sometimes the only sign, of liver disease. Learn more about jaundice.
Cholestasis means any condition in which bile flow is reduced or stopped. "Chole" refers to bile and "stasis" means "not moving." Bile flow may be blocked inside the liver, outside the liver or in both places. Learn more about cholestasis.
Liver enlargement is usually an indicator of liver disease, although there are usually no symptoms associated with a slightly enlarged liver (hepatomegaly). Symptoms of a grossly enlarged liver include abdominal discomfort or "feeling full."
Portal hypertension is high blood pressure in the portal vein, which supplies the liver with blood from the intestine and spleen. Portal hypertension may be due to increased blood pressure in the portal blood vessels, or resistance to blood flow through the liver. Portal hypertension can lead to the growth of new blood vessels (called collaterals) that connect blood flow from the intestine to the general circulation, bypassing the liver. When this occurs, substances that are normally removed by the liver pass into the general circulation. Learn more about portal hypertension.

Esophageal varices are dilated blood vessels within the walls of the lower part of the esophagus that are prone to bleeding. They can appear in people with severe liver disease. A diseased liver can cause portal hypertension, which is high blood pressure in the portal vein. The portal vein supplies the liver with blood. Over time, this pressure causes blood vessels to grow, called collateral blood vessels. These vessels act as channels to divert the blood under high pressure. The extra pressure in these vessels causes them to dilate and become tortuous. These vessels can eventually reach the lower esophagus and stomach and are prone to rupture. The rupture can lead to significant blood loss from vomiting or from lost blood passing through the gastrointestinal tract. Symptoms of esophageal varices may include:

  • Painless vomiting of blood
  • Black, tarry or bloody stools
  • Decreased urine output
  • Excessive thirst
  • Light-headedness
  • Paleness
  • Anemia, a condition that indicates a low red blood cell count.
Ascites is fluid buildup in the abdominal cavity caused by fluid leaks from the surface of the liver and intestine. Ascites due to liver disease usually accompanies other liver disease characteristics, such as portal hypertension. Symptoms of ascites may include a distended abdominal cavity, which causes discomfort and shortness of breath. Learn more about ascites.

Liver encephalopathy is the deterioration of brain function and damage to the nervous system due to toxic substances building up in the blood, which are normally removed by the liver. Liver encephalopathy is also called portal-systemic encephalopathy, hepatic encephalopathy or hepatic coma. Symptoms may include:

  • Impaired consciousness
  • Changes in logical thinking, personality and behavior
  • Mood changes
  • Impaired judgment
  • Drowsiness
  • Confusion
  • Sluggish speech and movement
  • Disorientation
  • Loss of consciousness
  • Coma
  • Seizures (rare)
  • Muscle stiffness or tremors
  • Uncontrollable movement.

Liver failure is severe deterioration of liver function. Liver failure occurs when a large portion of the liver is damaged due to any type of liver disorder. Symptoms may include:

  • Jaundice
  • Tendency to bruise or bleed easily
  • Ascites
  • Impaired brain function
  • General failing health
  • Fatigue
  • Weakness
  • Nausea
  • Loss of appetite
  • Diarrhea.