GlobalResearch and clinical trials
In Alagille syndrome, maralixibat reduced fatty skin deposits in a pooled analysis of two trials
Fatty deposits in the skin were studied in children with Alagille syndrome.
Peer-reviewed publicationAlagille
Liver and digestive diseases
Alagille syndrome
An inherited disease that affects the liver, the heart and other organs. The bile ducts are few and narrow. Jaundice, itching and heart problems may be seen.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Liver and digestive diseases” group.
Understanding the disease
This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.
What happens in this disease?
Bile flows from the liver to the bowel through small ducts. In this disease, the bile ducts in the liver are few, narrow or abnormally shaped. Bile builds up in the liver and can damage it. The heart, spine, eyes, kidneys and blood vessels can also be affected. Even within the same family, the course can vary from very mild to severe.
Which symptoms can occur?
Symptoms are usually noticed in infancy or early childhood.
- Jaundice and slowed bile flow (about 9 in 10 people have too few bile ducts)
- Severe itching
- Yellow fatty deposits in the skin (xanthomas)
- Heart problems, most often narrowing of the lung artery
- Butterfly-shaped vertebrae (they usually cause no complaints)
- A mark on the front surface of the eye (seen during an eye examination)
- Facial features such as a broad forehead, deep-set eyes and a pointed chin
- Kidney problems and slow growth (sometimes)
How is it diagnosed?
The doctor assesses the findings in the liver, heart, spine, eyes and face together. Blood tests, a liver biopsy, an eye examination, a spine X-ray and a heart ultrasound may be done. A genetic test confirms the diagnosis in most people.
Treatment and care
Care covers several areas. Nutritional support and replacing fat-soluble vitamins are important. Medicines are used for itching and bile flow. There are approved treatments specifically for the disease for itching caused by it. If needed, an operation to redirect bile or a liver transplant is done. Heart, kidney and blood vessel problems are monitored and treated separately. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
The disease is passed on through dominant inheritance. A single changed gene is enough to cause the disease. In some children the change comes from the mother or father. In others it appears for the first time in the child. For each child of an affected parent, the chance of passing it on is 1 in 2. A parent may be very mildly affected; this is why examining the family may be advised. Genetic counselling guides the family.
Source: MedlinePlus Genetics: Alagille syndrome · NORD: Alagille syndrome · EMA: Livmarli (EPAR)
Key facts
- How is it inherited?
- Autosomal dominant
- When does it usually start?
- Any age
- Reliable sources
- MedlinePlus (for families) · Orphanet
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
You are not alone: patient associations in Türkiye
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Support and help
- In an emergency in Türkiye, call 112.
- For psychological and social support, the ALO 183 Social Support Line (24/7, free from within Türkiye): alo183.aile.gov.tr
- For carers: Looking after yourself as a caregiver
- Preparing for a doctor visit · Collect your questions and symptom notes on one page, then print it and take it with you.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
News about Alagille
Clinical trials (ClinicalTrials.gov)
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.
Questions you can ask your doctor
- Could this trial be suitable for us?
- If we take part, how would current treatment and check-ups be affected?
- Where does the trial take place, and how are travel and accommodation handled?
- What happens if we want to leave the trial?
ClinicalTrials.gov lists 2 active interventional studies for this disease. 1 is recruiting now; 1 has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
- Long-term Safety and Efficacy of Odevixibat in Patients With Alagille Syndrome
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)Active, not recruitingSite in TürkiyeNCT05035030
- Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients With Alagille Syndrome or Progressive Familial Intrahepatic Cholestasis in the European Union (LEAP-EU)
Phase 4 · follow-up study of an approved drugRecruitingNCT07290257
See all studies on ClinicalTrials.gov · Joining clinical trials
Liver and digestive diseases: other news
TürkiyeResearch and clinical trials
91 Hirschsprung operations over 17 years in Ankara: most long-term problems resolved without surgery
At a pediatric surgery center in Ankara, 91 patients with Hirschsprung disease were reviewed.
Peer-reviewed publicationHirschsprung
TürkiyeResearch and clinical trials
72 Hirschsprung operations in Konya: botulinum injection helped most children with recurrent bowel inflammation
In Konya, 72 Hirschsprung patients operated on between 2011–2023 were studied.
Peer-reviewed publicationHirschsprung
TürkiyeDiagnosis and screening
Simple diagnostic score based on three findings developed for biliary atresia in Malatya
At İnönü University, the records of 70 babies with jaundice were reviewed.
Peer-reviewed publicationBiliary atresia
Medical codes (for talking with your doctor and finding sources)
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:52
No separate ICD-11 code; WHO classifies this disease under: LB20.0Y
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.