LiverSteps KidsLiver health education for children and familiesLiverSteps Kids helps families recognize important warning signs, understand testing and diagnoses, support nutrition and growth, manage itching, and prepare for follow-up — one step at a time.
Cholestasis can first appear as prolonged jaundice, pale stool, dark urine, an elevated direct bilirubin, severe itching, poor growth, or a named liver diagnosis. Choose the closest starting point.
The most time-sensitive pathway is a young baby with pale stool or persistent jaundice.
A baby can look well and still have significant cholestasis. Pale stool is not something to watch for several weeks. Persistent jaundice needs a fractionated bilirubin test, and suspected biliary atresia needs urgent specialist assessment.
Families do not need to solve the diagnosis alone. The goal is to recognize the signal and reach the right pathway.
Cholestasis means that bile formation or bile flow is reduced or disrupted. As a result, substances normally carried in bile can build up in the liver and blood, while less bile may reach the intestine. Cholestasis is a finding with many possible causes—not one single disease.
Bile carries bilirubin and other substances out of the liver.
Tiny ducts inside the liver join larger ducts that drain toward the intestine.
Bile gives stool its colour and helps absorb fat and vitamins A, D, E, and K.
Bilirubin and other substances leave the body through bile and stool.
When little or no bile reaches the intestine, stool may become unusually pale.
Reduced bile flow can reduce absorption of dietary fat and the calories it provides, as well as essential fatty acids and vitamins A, D, E, and K. Over time, this can contribute to poor growth and nutrient deficiencies.
Important: not every child has every sign. Pale stool is an important warning sign, but normal-coloured stool does not rule out cholestasis.
Specialists may use the terms intrahepatic and extrahepatic. The groups below explain the same idea in simpler language.
PFIC and related genetic disorders, bile-acid synthesis disorders, alpha-1 antitrypsin deficiency, metabolic or endocrine disease, infection or severe illness, intestinal-failure-associated cholestasis, and medication-related injury.
Alagille syndrome and other developmental or genetic disorders affecting the small intrahepatic bile ducts.
Biliary atresia, choledochal cyst, stones, narrowing, injury, or post-surgical and post-transplant bile-duct complications.
Most early newborn jaundice is related to unconjugated bilirubin. Cholestasis means bile formation or bile flow is reduced and is usually identified by an elevated direct/conjugated bilirubin. A total bilirubin alone cannot make this distinction, which is why bilirubin may need to be fractionated. In some children, doctors also measure serum bile acids to help evaluate cholestasis, itching, or the underlying cause.
The child’s age, stool colour, blood-test pattern, ultrasound findings, other organ features, and genetic results help the liver team narrow the cause. These overviews explain the main groups without expecting families to solve the diagnosis themselves.
The bile ducts outside and sometimes inside the liver become scarred or blocked early in infancy, so bile cannot drain normally.
A genetic multisystem condition in which the liver may have fewer small bile ducts.
A group of inherited conditions affecting how liver cells form, transport, or recycle bile.
An inherited condition in which abnormal alpha-1 antitrypsin can accumulate in liver cells. Some infants develop cholestasis; many do not.
A congenital widening or abnormality of the bile duct can obstruct flow and increase the risk of inflammation, pancreatitis, stones, or infection.
Rare inherited disorders can alter bile-acid production or another metabolic pathway. Some have specific treatments once identified.
No single test identifies every cause. The first priority is confirming direct/conjugated hyperbilirubinemia and deciding promptly whether biliary atresia or another urgent or treatable condition is possible.
Do not delay contacting the screening program or clinician while waiting to collect a perfect photograph.
Pale stool is an important warning sign, but not every child with cholestasis has pale stool. Persistent jaundice, dark urine, or an elevated direct/conjugated bilirubin still requires assessment.
Biliary atresia is a rare disease of infancy in which bile ducts become scarred and obstructed. Early recognition and referral improve the chance of restoring bile drainage with a Kasai portoenterostomy.
Babies with biliary atresia may feed and appear well early on. The important clues are persistent jaundice, pale/acholic stool, dark urine, and direct hyperbilirubinemia.
Not every infant with cholestasis has clearly pale stool. Persistent jaundice, dark urine, or an elevated direct/conjugated bilirubin still needs timely assessment.
Use the original physical card provided by the birth hospital, midwifery practice, or screening program. Screen colours viewed on a phone or home printer may be inaccurate.
Newborn Screening Ontario provides the Infant Stool Colour Card and a direct pathway for families concerned about pale stool.
Open Ontario BA screening ↗Perinatal Services BC asks families to check stool colour every day during the first month after birth.
Open BC BA screening ↗The surgeon removes the scarred extrahepatic ducts and connects a loop of intestine to the liver surface, where microscopic ducts may still drain bile.
It is not a cure. Some children achieve good bile flow for years; others continue to have cholestasis or later need liver transplant.
Fever, a sudden increase in jaundice, newly pale stools, dark urine, poor feeding, vomiting, or unusual sleepiness can represent bile-duct infection. Follow the liver team’s emergency plan and contact them immediately. Same-day hospital assessment may be needed.
Alagille syndrome is a genetic condition that can affect the small bile ducts and several other parts of the body. The pattern is highly variable: two children with the same diagnosis may have very different liver, heart, kidney, vascular, growth, or itching concerns.
Most children have a change in JAG1; a smaller number have a change in NOTCH2. These genes help organs and blood vessels develop. Alagille syndrome is usually inherited in an autosomal-dominant pattern, although the change may be new in the child.
Not every child has every feature.
Cholestasis can cause intense itching, sleep disruption, skin injury, high cholesterol or xanthomas, poor appetite, and difficulty absorbing fat and vitamins A, D, E, and K.
The follow-up plan may include liver function, growth, vitamins, spleen and portal-hypertension assessment, heart and kidney follow-up, and individualized vascular surveillance.
Progressive familial intrahepatic cholestasis, or PFIC, is not one single disease. It is a group of genetic conditions in which liver cells cannot form, move, or recycle bile normally. The gene and subtype help determine the expected laboratory pattern, complications, treatment options, and monitoring plan.
PFIC is a group of genetic liver conditions, and there are many different types. This short video introduces some of the better-known forms, including PFIC1, PFIC2 and PFIC3, and explains how problems with bile transport can cause symptoms such as severe itching.
There are other PFIC types too. Genetic testing helps the liver team identify the specific type and guide monitoring and treatment.
Different PFIC genes affect different bile transport proteins. GGT may be low or normal in some forms and elevated in others. Some subtypes carry specific risks for gallstones, pancreatitis, progressive fibrosis, or liver tumours.
Itch can be the dominant symptom even when a child does not appear very jaundiced. The team should assess sleep, skin injury, school attendance, mood, appetite, growth, and family burden—not only a laboratory value.
Alpha-1 antitrypsin deficiency is an inherited condition caused by changes in SERPINA1. In liver disease, the main problem is that abnormal alpha-1 antitrypsin can become trapped inside liver cells. Low circulating levels are also relevant to lung health later in life.
Some infants develop jaundice and cholestasis; others are identified because of abnormal liver tests or family screening. Cholestasis may improve, but a smaller group develops ongoing fibrosis, portal hypertension, or advanced liver disease.
There is currently no routine medicine that removes the stored abnormal protein from liver cells.
Significant lung disease usually appears later than childhood, but prevention starts early.
Liver transplant may be considered for liver failure, severe portal-hypertension complications, poor growth, or other advanced-liver-disease indications. A transplanted liver produces normal donor alpha-1 antitrypsin, but transplant also requires lifelong specialist follow-up.
Cholestatic pruritus is not “just dry skin.” It can disrupt sleep, concentration, mood, school attendance, family routines, and growth. Children may rub rather than scratch, especially when young, and long-standing itch can become so familiar that children and families may under-report or normalize its impact.
The pattern differs by child, but many families notice symptoms intensify when the child is tired, warm, inactive, or trying to sleep.
When itching has been present for a long time, children and families may adapt to it. A child may say the itch is “fine,” complain less, or scratch without noticing—even when itch is still affecting sleep, school, activities, clothing choices, skin, or family routines.
Look at what the itch is doing, not only how the child describes it. These questions can uncover burden that has become easy to miss:
Tell the liver team about these day-to-day effects even if the child rarely complains. The impact on daily life can be as important as the number of times a child scratches.
These measures may reduce skin injury but do not correct the underlying cholestatic itch pathway.
Select what has been happening recently. This does not diagnose severity; it helps organize the discussion.
Explore four fictional family stories about cholestatic itch, sleep, school, everyday life, and speaking up with the care team.
Educational play · Game progress does not measure liver health.
Cholestasis can reduce fat absorption and increase nutritional needs. Some babies and children therefore need extra calories, protein, and fat to support growth. Nutrition treatment is part of liver treatment—not an optional extra—and should be individualized with the liver team and pediatric dietitian.
Less bile in the intestine can reduce absorption of fat, calories, essential fatty acids, and fat-soluble vitamins. Poor appetite, taste changes, nausea, itching, poor sleep, and feeling full quickly can reduce how much a child eats. An enlarged liver or spleen, abdominal swelling, or fluid in the abdomen can also put pressure on the stomach. Some children have increased nutritional needs during chronic illness.
What this can mean: some babies and children need more calories, protein, and fat than other children their age. The exact amount and type should be individualized by the liver team and pediatric dietitian.
Breast milk or standard formula may continue, but some babies need concentrated feeds, added medium-chain triglyceride (MCT), a specialized formula, or more frequent feeds. The exact plan depends on growth and diagnosis.
Small, frequent meals, energy-dense additions, protein at meals and snacks, and practical school plans may help. Some children also need prescribed nutrition supplements or extra snacks to meet their individual energy needs.
Nasogastric or gastrostomy feeds can protect growth when oral intake is not enough. This is medical nutrition support—not a failure by the child or family.
MCT can be absorbed with less dependence on bile than long-chain fat, so it may improve calorie absorption in cholestasis.
Weight alone can be misleading. An enlarged liver or spleen, swelling, or fluid in the abdomen can increase the number on the scale without representing true nutritional growth. The team therefore follows growth trends and velocity over time.
Because fat malabsorption can cause deficiency, the liver/GI team may check fat-soluble vitamin bloodwork regularly and adjust doses over time. Some children need water-miscible or other specialized preparations and doses higher than routine multivitamins. Do not change vitamin doses without the liver team because both deficiency and excess can be harmful.
Before a nutrition visit, record feeds or meals, vomiting or diarrhea, stool changes, itch and sleep, and any missed vitamins for three typical days. A simple record often helps more than trying to remember everything during the visit.
New unexplained bruising, persistent nose or gum bleeding, blood in stool or vomit, marked sleepiness, or bleeding that is difficult to stop needs urgent medical assessment.
Treatment depends on the cause. A medicine that is useful in one cholestatic condition may be ineffective or inappropriate in another. Doses and combinations must be directed by a pediatric liver specialist.
Children with chronic liver disease should stay up to date with routine childhood immunizations. Depending on age, prior vaccines, immune status, and the liver condition, the care team may also recommend protection against hepatitis A and hepatitis B if the child is not already immune, as well as influenza and pneumococcal vaccination according to Canadian guidance.
Children being considered for liver transplantation need an individualized vaccine review because timing and vaccine choices can change before and after transplant. Ask the liver team or primary-care provider to review the child’s immunization record.
A more hydrophilic bile acid that may improve bile composition and bile flow in selected cholestatic disorders.
Maralixibat and odevixibat block the ileal bile acid transporter in the lower part of the small intestine. This reduces bile-acid recycling, increases bile-acid loss in stool, and can reduce cholestatic itching in eligible children with Alagille syndrome or PFIC.
Rifampin may reduce cholestatic itch through liver enzyme and bile-acid pathways. Cholestyramine binds bile acids in the intestine. Naltrexone or sertraline may be considered in selected older children.
Antihistamines do not directly correct the main cholestatic itch pathway, but a sedating agent may sometimes help sleep. Fat-soluble vitamins treat or prevent deficiencies. Antibiotics treat cholangitis and may be used prophylactically after Kasai according to centre practice.
Fill in the fields and select “Create visit summary.” Nothing entered here is sent or stored.
Informed the explanations of early recognition and testing.
Informed the infant warning signs and timely assessment messages.
Informed the guidance on growth, nutrition and vitamins.
Informed the explanations of genetic diagnosis, monitoring and treatment.
Informed the explanation of features, genetic testing and follow-up.
Informed the explanation of liver involvement and family testing.
Informed the stool-colour awareness and screening resources.
Informed the vaccination messages for children with chronic liver disease.
Informed explanations of cholestatic itching, treatment and long-term care.