Living with Arteriohepatic dysplasia
A genetic condition (Alagille syndrome) that mainly affects the liver and heart, and can affect the face, spine, and kidneys.
Understanding Arteriohepatic dysplasia
The bile ducts, which carry bile from the liver, may be narrow, malformed, and fewer in number. Bile builds up and scars the liver. Liver signs include yellow skin and eyes (jaundice) and itching. Heart problems such as pulmonic stenosis can occur. Features usually appear in infancy or early childhood and range from very mild to severe, even in one family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowed or blocked bile flow (cholestasis)
- Fewer bile ducts in the liver
- Enlarged liver
- Hole between the lower heart chambers (VSD)
- Butterfly-shaped spine bones
- Broad forehead and pointed chin
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Alagille Syndrome Alliance and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: alagille syndrome; alagille-watson syndrome; syndromic bile duct paucity; watson-alagille syndrome
Patient organizations
- Alagille Syndrome AllianceArteriohepatic dysplasia · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Arteriohepatic dysplasia.
Explore research for Arteriohepatic dysplasia
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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