🧒🟡🧬 Progressive Familial Intrahepatic Cholestasis (PFIC): A Parent-Friendly Guide

⚠️ Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare genetic liver condition that causes severe problems with bile flow starting in infancy or early childhood.
Children with PFIC often have intense itching, poor growth, and persistent cholestasis and need specialist liver care.
Early diagnosis helps guide treatment, monitoring, and long-term planning.

1) 🧾 Quick “At-a-glance” box (top of page)

✅ Condition name: Progressive Familial Intrahepatic Cholestasis
Common names: PFIC, inherited cholestatic liver disease

Plain-language summary (2–3 lines):
PFIC is a genetic condition where bile cannot flow properly out of the liver. Bile builds up, irritating the liver and causing severe itching and other symptoms. Some children remain stable for years; others may progress and eventually need liver transplantation.

Who it affects (typical ages):
Most often begins in infancy or early childhood, though milder forms may present later.

✅ What parents should do today:

• Take persistent itching or cholestasis seriously
• Keep all hepatology appointments
• Track symptoms (itching, growth, stools)
• Ask about genetic testing and family implications

⚠️ Red flags that need urgent/ER care:

• Severe lethargy or confusion
• Vomiting blood or black stools
• Rapid belly swelling
• Fever with worsening jaundice

🟡 When to see the family doctor/clinic:

• Persistent jaundice or itching
• Poor growth
• Pale stools or dark urine
• Abnormal liver blood tests

2) 🧠 What it is (plain language)

Bile helps digest fats and remove waste from the body.

In PFIC:

• bile transport inside liver cells doesn’t work properly
• bile builds up in the liver
• this causes inflammation, scarring, and severe itching

PFIC is genetic, meaning a child is born with it.

What part of the body is involved? (small diagram required)

Common myths vs facts

• Myth: “PFIC is caused by diet or infection.”
  Fact: PFIC is inherited and present from birth.
• Myth: “Itching is just a skin problem.”
  Fact: Itching comes from bile buildup and needs liver care.
• Myth: “All children with PFIC need transplant immediately.”
  Fact: Disease severity varies; some respond to medical or surgical treatments for years.

3) 🧩 Why it happens (causes & triggers)

Cause

PFIC is caused by genetic changes affecting bile transport proteins in liver cells.

Common PFIC types include:

• PFIC type 1
• PFIC type 2
• PFIC type 3
  (Your specialist may use newer gene-based names.)

Risk factors

• inherited in an autosomal recessive pattern
• family history of liver disease
• consanguinity (in some families)

Triggers that worsen symptoms

• infections
• dehydration
• poor nutrition
• missed medications

4) 👀 What parents might notice (symptoms)

Common symptoms

• severe itching (often without rash)
• jaundice
• pale or greasy stools
• dark urine
• poor growth or weight gain
• irritability and sleep disturbance (from itching)

Later or more severe symptoms

• enlarged liver or spleen
• belly swelling (ascites)
• easy bruising or bleeding

What’s normal vs what’s not

⚠️ Not normal:

• persistent itching in a child
• cholestasis with normal ultrasound
• poor growth with liver test abnormalities

Symptom tracker (what to write down)

• itching severity (day/night)
• sleep quality
• stool color and consistency
• growth measurements
• energy level

5) 🏠 Home care and what helps (step-by-step)

✅ PFIC requires specialist care. Home care focuses on symptom relief and nutrition.

First 24–48 hours after diagnosis

✅ Do this now:

• Ask your hepatology team:
  • Which PFIC type is suspected?
  • Has genetic testing been done?
  • What treatments are appropriate now?
• Begin a symptom diary
• Review nutrition and vitamin plans

Supportive care at home

• keep nails short to reduce skin injury from scratching
• moisturize skin regularly
• cool bedroom at night
• high-calorie nutrition as advised
• fat-soluble vitamin supplementation if prescribed (A, D, E, K)

6) ⛔ What NOT to do (common mistakes)

• Don’t assume itching is allergies or eczema alone.
• Don’t stop medications without guidance.
• Don’t give herbal supplements.
• Don’t miss follow-up appointments.

7) 🚦 When to worry: triage guidance

🔴 Call 911 / Emergency now

• vomiting blood
• black stools
• severe confusion or collapse
• severe breathing difficulty

🟠 Same-day urgent visit

• fever with worsening jaundice
• rapid belly swelling
• sudden worsening itching with illness

🟡 Book a routine appointment

• increasing itching
• poor growth
• sleep disruption
• questions about genetic results

🟢 Watch at home

• stable child with known PFIC and no new red flags

8) 🩺 How doctors diagnose it (what to expect)

What the clinician will ask

• age of symptom onset
• severity of itching
• family history
• growth and feeding history

Physical exam basics

• growth parameters
• liver and spleen size
• skin changes from scratching

Possible tests (and why)

• blood tests:
  • cholestatic liver enzymes
  • bile acids
  • clotting tests
• ultrasound (often normal early)
• liver biopsy (selected cases)
• genetic testing (key for diagnosis)
• imaging if complications suspected

What tests are usually not needed

• repeated imaging without clinical change

9) 🧰 Treatment options

✅ Treatment aims to reduce bile buildup, control itching, and protect the liver.

First-line treatments

• medications to improve bile flow or reduce bile acids
• itch-directed medications
• vitamin supplementation
• nutrition support

If not improving

• surgical bile diversion procedures (in selected cases)
• enrollment in clinical trials (for some genetic types)
• advanced hepatology care

Severe cases

• liver transplantation for progressive disease or complications

Treatment notes (parent-friendly)

• Itch control: often the biggest quality-of-life issue
• Nutrition: critical for growth and development
• Transplant: life-saving when needed, but not immediate for all

10) ⏳ Expected course & prognosis

• PFIC is chronic and progressive, but rate varies.
• Some children respond well to treatments for years.
• Others develop cirrhosis and need transplant in childhood or adolescence.

What “getting better” looks like

• reduced itching
• improved sleep
• stable growth
• improved or stable labs

What “getting worse” looks like

• worsening jaundice
• uncontrolled itching
• growth failure
• portal hypertension signs

11) ⚠️ Complications (brief but clear)

Common complications

• severe itching
• vitamin deficiencies
• poor growth

Serious complications

• cirrhosis
• portal hypertension
• variceal bleeding
• liver failure

12) 🛡️ Prevention and reducing future problems

PFIC cannot be prevented, but outcomes improve with:

• early diagnosis
• strict follow-up
• good nutrition
• prompt treatment of infections
• family genetic counseling

13) 🌟 Special situations

Infants

Symptoms may appear early; feeding and growth support are crucial.

Teens

Mental health support is important due to chronic itching and disease burden.

Siblings

Genetic counseling and testing may be recommended.

Neurodevelopmental differences

Use structured routines and caregiver-administered medication plans.

Travel considerations

Carry medical summary and emergency instructions.

School/daycare notes

Allow flexibility for fatigue, itching, and appointments.

14) 📅 Follow-up plan

• regular hepatology visits
• routine blood tests
• growth and nutrition monitoring
• imaging as advised
• transplant planning if disease progresses

15) ❓ Parent FAQs

“Is it contagious?”

No.

“Can my child eat ___?”

Yes, but many need high-calorie diets and vitamin supplements.

“Can they bathe/swim/exercise?”

Yes, as tolerated. Protect skin from scratching injuries.

“Will they outgrow it?”

PFIC does not go away, but treatment can control symptoms for long periods.

“When can we stop treatment?”

Long-term treatment and monitoring are needed; never stop without guidance.

16) 🧾 Printable tools (high-value add-ons)

🧾 Printable: PFIC One-Page Action Plan

Daily:

• Medications taken
• Vitamins given
• Itching tracked
• Nutrition goals met

Call clinic if:

• itching worsens
• growth slows
• sleep severely disrupted

Urgent/ER if:

• vomiting blood
• black stools
• confusion or collapse

🧾 Printable: Itch & Sleep Tracker

Date: ______

• Itching (0–10): ______
• Night waking: yes/no
• Skin injury: yes/no
• Notes: _______________________

🧾 Printable: “Red Flags” Fridge Sheet

⚠️ Urgent: vomiting blood, black stools, severe confusion, rapid belly swelling.

17) 📚 Credible sources + last updated date

Trusted references:

• Pediatric hepatology society resources
• Children’s hospital PFIC family guides
• Genetic liver disease foundations

Last reviewed/updated on: 2025-12-30
Local guidance may differ by PFIC type and treatment availability.

🧡 Safety disclaimer

This guide supports—not replaces—medical care. If you are worried about your child, trust your instincts and seek urgent medical assessment.

This guide was fully developed & reviewed by Dr. Mohammad Hussein, MD, FRCPC ROYAL COLLEGE–CERTIFIED PEDIATRICIAN & PEDIATRIC GASTROENTEROLOGIST Board-certified pediatrician and pediatric gastroenterologist (Royal College of Physicians and Surgeons of Canada) with expertise in inflammatory bowel disease, eosinophilic gastrointestinal disorders, motility and functional testing, and complex nutrition across diverse international practice settings.

To book an online assessment Email Dr. Hussein’s Assistant Elizabeth Gray at: Elizabeth.Gray@pedsgimind.ca
In the email subject, please write: New Assessment Appointment with Dr. Hussein

Important: This appointment is completely online as Dr. Hussein is currently working overseas. This service is not covered by OHIP