Overview
Familial hypercholanemia (FHCA) is a rare inherited condition that affects how the liver handles bile acids. Bile acids are substances made by the liver that help your body digest fats and absorb important vitamins. In people with familial hypercholanemia, bile acids build up in the blood at abnormally high levels because the liver cannot properly transport or process them. The main symptoms usually appear in childhood and include intense itching (pruritus), which can be severe and greatly affect quality of life. Some patients also experience fat malabsorption, which means the body has trouble absorbing fats and fat-soluble vitamins (A, D, E, and K) from food. This can lead to vitamin deficiencies, poor growth, and loose or greasy stools. Elevated bile acid levels in the blood are a hallmark finding on laboratory tests. Liver function may be mildly affected, though severe liver disease is not always present. Treatment is mainly supportive and focuses on relieving itching and correcting vitamin deficiencies. Medications that bind bile acids in the gut, such as cholestyramine or other bile acid sequestrants, may help reduce symptoms. Fat-soluble vitamin supplements are often needed. Ursodeoxycholic acid (UDCA) may also be used to improve bile flow. Because this is a rare condition, management is best guided by specialists experienced in pediatric liver diseases and metabolic disorders.
Also known as:
Key symptoms:
Severe itching (pruritus)Elevated bile acids in the bloodGreasy or fatty stools (steatorrhea)Poor growth or failure to thriveFat-soluble vitamin deficiencies (vitamins A, D, E, K)FatigueLiver enlargement (hepatomegaly)Mildly abnormal liver function testsRickets or bone weakness from vitamin D deficiencyEasy bruising or bleeding from vitamin K deficiencyDry skin
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventSemmelweis University — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Familial hypercholanemia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial hypercholanemia at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial hypercholanemia.
Community
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Start the conversation →Latest news about Familial hypercholanemia
Disease timeline:
New trial: Cardiovascular Risk in Children With Chronic Conditions Study
Phase NA trial recruiting.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's (or my) bile acid elevation, and what does that mean for liver health?,What medications can help control the itching, and what are their side effects?,How often should we check liver function and vitamin levels?,Are there any dietary changes that could help with symptoms?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for familial hypercholanemia?,What signs should prompt us to seek urgent medical care?
Common questions about Familial hypercholanemia
What is Familial hypercholanemia?
Familial hypercholanemia (FHCA) is a rare inherited condition that affects how the liver handles bile acids. Bile acids are substances made by the liver that help your body digest fats and absorb important vitamins. In people with familial hypercholanemia, bile acids build up in the blood at abnormally high levels because the liver cannot properly transport or process them. The main symptoms usually appear in childhood and include intense itching (pruritus), which can be severe and greatly affect quality of life. Some patients also experience fat malabsorption, which means the body has troubl
How is Familial hypercholanemia inherited?
Familial hypercholanemia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial hypercholanemia typically begin?
Typical onset of Familial hypercholanemia is childhood. Age of onset can vary across affected individuals.
Which specialists treat Familial hypercholanemia?
1 specialists and care centers treating Familial hypercholanemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.