Start with what your family is seeing or has been told
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.
Where would you like to start?
The most time-sensitive pathway is a young baby with pale stool or persistent jaundice.
Some causes of cholestasis are time-sensitive
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.
The LiverSteps cholestasis journey
Families do not need to solve the diagnosis alone. The goal is to recognize the signal and reach the right pathway.
What is cholestasis?
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.
Bile has several important jobs
It carries substances out of the liver
Bilirubin and other substances leave the body through bile and stool.
It gives stool its colour
When little or no bile reaches the intestine, stool may become unusually pale.
It helps absorb fat and vitamins
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.
What families may notice
- Jaundice lasting beyond the early newborn period
- Pale, grey, white, chalky, or clay-coloured stool
- Dark urine that stains the diaper
- Poor weight gain or slow growth
- Easy bruising or bleeding
- Severe itching, scratch marks, or poor sleep
- An enlarged liver or spleen
Important: not every child has every sign. Pale stool is an important warning sign, but normal-coloured stool does not rule out cholestasis.
Three parent-friendly groups of causes
Specialists may use the terms intrahepatic and extrahepatic. The groups below explain the same idea in simpler language.
Problems in liver cells or bile transport
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.
Problems in the tiny ducts inside the liver
Alagille syndrome and other developmental or genetic disorders affecting the small intrahepatic bile ducts.
Problems in the larger bile-drainage pathway
Biliary atresia, choledochal cyst, stones, narrowing, injury, or post-surgical and post-transplant bile-duct complications.
“Jaundice” and “cholestasis” are not the same thing
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.
Important conditions families may hear about
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.
Biliary atresia
The bile ducts outside and sometimes inside the liver become scarred or blocked early in infancy, so bile cannot drain normally.
Alagille syndrome
A genetic multisystem condition in which the liver may have fewer small bile ducts.
PFIC and related genetic disorders
A group of inherited conditions affecting how liver cells form, transport, or recycle bile.
Alpha-1 antitrypsin deficiency
An inherited condition in which abnormal alpha-1 antitrypsin can accumulate in liver cells. Some infants develop cholestasis; many do not.
Choledochal cyst and structural obstruction
A congenital widening or abnormality of the bile duct can obstruct flow and increase the risk of inflammation, pancreatitis, stones, or infection.
Bile-acid synthesis and metabolic disorders
Rare inherited disorders can alter bile-acid production or another metabolic pathway. Some have specific treatments once identified.
Understanding the testing pathway
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.
Blood tests families may hear about
Imaging and procedures that may be used
What to bring to assessment
- Photographs of concerning stool in natural light
- The original provincial stool-colour card, if supplied
- When jaundice, dark urine, or stool changes began
- All bilirubin and liver-test results
- Newborn-screen information
- Medication and supplement list
- Feeding history and weight trend
- Vomiting, diarrhea, itch, or sleep concerns
- Relevant family history or known genetic results
Do not delay contacting the screening program or clinician while waiting to collect a perfect photograph.
One normal sign does not rule cholestasis out
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: the urgent pathway
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.
Do not wait for a baby to look unwell
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.
Pale stool is important—but it is not the only clue
Not every infant with cholestasis has clearly pale stool. Persistent jaundice, dark urine, or an elevated direct/conjugated bilirubin still needs timely assessment.
Official stool-colour screening in Canada
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.
Ontario
Newborn Screening Ontario provides the Infant Stool Colour Card and a direct pathway for families concerned about pale stool.
Open Ontario BA screening ↗British Columbia
Perinatal Services BC asks families to check stool colour every day during the first month after birth.
Open BC BA screening ↗From warning sign to treatment
What the Kasai operation does
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.
Care after Kasai may include
- Close bilirubin and liver-test monitoring
- Nutrition support and fat-soluble vitamins
- Antibiotic prophylaxis according to the centre’s protocol
- Ursodeoxycholic acid according to the centre’s post-Kasai protocol
- Monitoring for cholangitis, portal hypertension, growth, and spleen enlargement
- Early transplant assessment when bile drainage or liver function is poor
Possible cholangitis after Kasai
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
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.
What causes it?
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.
What may be affected?
- Liver and small bile ducts
- Heart and blood vessels
- Kidneys
- Eyes and spine
- Growth, nutrition, and fat-soluble vitamins
- Skin and daily life through severe itching or xanthomas
Not every child has every feature.
How is it diagnosed and assessed?
- Liver tests, bilirubin, bile acids, ultrasound, and growth review
- Genetic testing when appropriate
- Cardiology assessment and heart imaging
- Kidney function, blood pressure, and kidney imaging as indicated
- Eye examination and review for spine or skeletal findings
- Individualized assessment of blood vessels and neurological symptoms
Itching, nutrition, and growth
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.
- Growth and vitamin status need regular review.
- Some children need calorie-dense feeds, MCT-containing nutrition, or tube feeding.
- Shorter stature can be part of Alagille syndrome itself, so the team looks at the child’s individual growth pattern and growth velocity rather than a single height or weight measurement.
- Nutrition changes and vitamin doses should be directed by the liver and dietitian team.
Treatment may include
- Fat-soluble vitamins and individualized nutrition support
- Ursodeoxycholic acid or other symptom-directed medicines when appropriate
- Stepwise treatment for cholestatic itching
- An IBAT inhibitor for eligible children under specialist care
- Biliary diversion in selected cases
- Liver transplant for advanced liver disease or severe, treatment-resistant burden
Monitoring and safety
The follow-up plan may include liver function, growth, vitamins, spleen and portal-hypertension assessment, heart and kidney follow-up, and individualized vascular surveillance.
Questions families may ask
PFIC and related genetic cholestasis
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.
What families may notice
- Severe or persistent itching
- Jaundice, dark urine, or pale stool
- Poor sleep, skin injury, irritability, or reduced school participation
- Poor growth or vitamin deficiency
- Gallstones, enlarged liver or spleen, or signs of portal hypertension
Why the subtype matters
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.
How PFIC is diagnosed
- Bilirubin, GGT, bile acids, liver tests, INR, albumin, and vitamin levels
- Ultrasound and assessment for fibrosis or portal hypertension
- Genetic testing to confirm the diagnosis and subtype
- Liver biopsy or specialized testing in selected situations
- Family testing and genetic counselling when appropriate
Itch, nutrition, and daily life
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.
- Fat-soluble vitamin replacement may be required.
- Some children need concentrated feeds, MCT, or tube feeding.
- Diarrhea and nutrition need review when treatments alter bile-acid recycling.
Treatment may include
- Nutrition support and vitamins A, D, E, and K
- Specialist-directed anti-pruritic medicines
- An IBAT inhibitor for eligible children
- Partial external or internal biliary diversion in selected cases
- Liver transplant when disease, complications, or itch remain severe
Monitoring
- Growth, development, and fat-soluble vitamins
- Liver function, fibrosis, spleen size, and portal hypertension
- Treatment response and adverse effects
- Gallstones or pancreatitis when relevant
- Genotype-specific liver-tumour surveillance in selected PFIC types
Questions families may ask
Alpha-1 antitrypsin deficiency
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.
What can happen in childhood?
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.
How it is diagnosed
- Alpha-1 antitrypsin blood level
- Phenotype and/or genetic testing
- Liver tests, bilirubin, INR, albumin, and platelet count
- Ultrasound or fibrosis assessment when indicated
- Family testing and genetic counselling
Liver care
- Monitor growth, liver tests, spleen size, and signs of portal hypertension
- Treat cholestasis-related nutrition or vitamin deficiencies when present
- Review medicines and supplements with the liver team
- Use routine chronic-liver-disease and vaccination guidance individualized to the child
There is currently no routine medicine that removes the stored abnormal protein from liver cells.
Lung health matters too
Significant lung disease usually appears later than childhood, but prevention starts early.
- Avoid tobacco smoke and vaping exposure.
- Discuss workplace or environmental exposures as the child grows.
- Seek medical review for persistent respiratory symptoms.
- Ensure the diagnosis is known during transition to adult care.
When transplant is considered
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.
When to contact the team sooner
- Increasing jaundice or abdominal swelling
- Vomiting blood, black stool, or unusual bleeding
- New severe fatigue, confusion, or reduced alertness
- Poor intake, dehydration, or declining growth
- New breathing symptoms or significant smoke exposure concerns
Questions families may ask
Cholestatic itching and daily life
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.
What the burden can look like across a day
The pattern differs by child, but many families notice symptoms intensify when the child is tired, warm, inactive, or trying to sleep.
Signs worth documenting
- How long it takes to fall asleep
- Night waking and caregiver waking
- Bleeding, scabs, or infection of scratched skin
- Days missed from school or activities
- Changes in mood, appetite, or concentration
- Whether medicines are helping and for how long
Comfort measures while the medical plan is reviewed
- Keep nails short and cover broken skin as advised
- Use fragrance-free moisturizer and gentle bathing
- Keep the bedroom cool; choose light, soft clothing
- Use a predictable sleep routine
- Discuss school accommodations and fatigue
- Contact the liver team when itch is escalating rather than waiting for the next routine visit
These measures may reduce skin injury but do not correct the underlying cholestatic itch pathway.
Quick itch-impact check
Select what has been happening recently. This does not diagnose severity; it helps organize the discussion.
Nutrition, vitamins, and growth
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.
Why growth can become difficult
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.
Infants
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.
Children eating meals
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.
Tube or overnight feeding
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.
Medium-chain triglycerides: why they may be used
MCT can be absorbed with less dependence on bile than long-chain fat, so it may improve calorie absorption in cholestasis.
- MCT should not replace all dietary fat because children still need essential long-chain fatty acids.
- The formula, amount, and method of fortification must be prescribed.
- Vomiting, diarrhea, feeding tolerance, and growth should be monitored.
How the team assesses growth
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.
- Weight, length or height, and head growth in infants
- Mid-upper arm circumference or body composition when appropriate
- Feed volume and tolerance
- Vitamin and mineral blood levels
- Bone health and fractures
- Signs of essential fatty-acid deficiency
Changes that should only be made with the liver or dietitian team
Fat-soluble vitamins need active monitoring
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.
When the nutrition plan needs earlier review
- Weight or height crosses downward through percentiles
- Feeds take increasingly long or the child tires before finishing
- Frequent vomiting, diarrhea, poor appetite, or early fullness
- Difficulty taking prescribed vitamins or medicines
- Reduced energy, muscle strength, or participation
- Tube or overnight feeds are no longer tolerated
A useful 3-day record
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.
Call promptly for possible vitamin K deficiency or worsening liver disease
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.
Medicines, procedures, and transplant
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.
Vaccines and infection prevention
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.
Ursodeoxycholic acid (ursodiol/UDCA)
A more hydrophilic bile acid that may improve bile composition and bile flow in selected cholestatic disorders.
- It does not open an anatomically blocked duct.
- It does not replace Kasai surgery for biliary atresia or surgery for a choledochal cyst.
- Benefit varies by diagnosis; diarrhea or intolerance can occur.
- The team follows symptoms, bilirubin, liver tests, and overall response.
IBAT inhibitors
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.
- These medicines are started and monitored by a specialist pediatric liver team; they are not routine primary-care medicines.
- Eligibility depends on the diagnosis, age, current indication, and specialist assessment.
- Response differs between children; the goals are less itching, better sleep, and improved daily life.
- Diarrhea and abdominal pain can occur.
- Fat-soluble vitamin levels can change during treatment.
- The liver team monitors growth, liver tests, and vitamins A, D, E, and K.
Rifampin and other anti-pruritic medicines
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.
- Each has drug-interaction, tolerability, and monitoring considerations.
- Cholestyramine must be separated from many medicines and vitamins.
- These are specialist-directed therapies, often used stepwise or in combination.
Antihistamines, vitamins, and antibiotics
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.
Visit preparation and when to seek care
Build a family summary
Your summary
Fill in the fields and select “Create visit summary.” Nothing entered here is sent or stored.
Evidence and about this module
This module was developed using pediatric liver-disease guidance, Canadian biliary-atresia screening materials, disease-specific reviews, nutrition and immunization guidance, and specialist pediatric hepatology and dietitian feedback. Official Ontario and British Columbia stool-colour screening links are provided in the biliary-atresia screening section and beside the urgent infant warning at the top of the module.