What is Alagille Syndrome (ALGS)?
Alagille syndrome (ALGS) is a rare, multisystem genetic disorder that can affect the liver, heart, skeleton, eyes, central nervous system, kidneys and facial features. The estimated incidence of ALGS ranges from 1 in 30,000 to 50,000 live births.
Liver damage may result from having fewer narrowed or malformed bile ducts than normal in the liver which leads to build up of toxic bile acids, which can cause scarring and progressive liver disease.
Approximately 95% of patients with the condition present with chronic cholestasis, usually within the first three months of life, and as many as 88% also present with severe, intractable pruritus.
What Happens in the Liver?
A healthy liver produces bile, a liquid that helps with digesting fats and absorbing vitamins. Bile is transported through bile ducts. 90% of people with ALGS have fewer bile ducts which can lead to an increase in bile acids in the liver (cholestasis). This prevents the liver from draining the properly, leading to liver damage.
This can also lead to a backup of bile in the liver and bloodstream, and may lead to itching which can be so bothersome that patients may scratch through their skin.
What are the Symptoms Associated with ALGS?
Path to Diagnosis
ALGS liver disease is often identified through a physical exam, blood test and ultrasound. A doctor will look for common characteristics including cholestasis, distinctive facial features (triangular or prominent forehead, deeply set eyes), butterfly vertebrae, eye anomalies, heart defects, kidney defects, itching, jaundice, and xanthomas (cholesterol deposits in the skin).
It is important to diagnose ALGS early to begin a treatment plan.
A pediatrician or general practitioner may recommend a care team of specialist, including hepatologists (liver specialists), cardiologists (heart specialists), nephrologists (kidney specialists) and/or ophthalmologists (eye specialists).
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