International Alagille Syndrome Awareness Day Date in the current year: January 24, 2025

Alagille syndrome (ALGS) is a genetic disorder characterized by narrow and malformed bile ducts (bile duct paucity). It is named after French pediatric hepatologist Daniel Alagille, who first described the condition in 1969. He noticed that a number of his patients with bile duct problems also had problems with the heart and other organs, and established the initial diagnostic criteria for ALGS.

Alagille syndrome is caused by mutations in the JAG1 or NOTCH2 gene, which are critical for the development of the Notch signaling pathway. The pathway plays an important role in embryonic development, and its disruption by mutation causes developmental problems such as bile duct paucity in patients with Alagille syndrome. The mutation can occur spontaneously or be passed from parent to child.

Because of the lack of functioning bile ducts, bile builds up in the liver and causes scarring that prevents the liver from functioning properly. Liver damage can cause symptoms such as jaundice, severe itching, pale stools, cholesterol deposits in the skin (xanthomas), and decreased absorption of fat-soluble vitamins (A, D, E, and K).

Alagille syndrome may also affect other organs of the body. Its non-liver-related symptoms may include blood vessel abnormalities, heart murmurs, spinal abnormalities, enlarged spleen, kidney problems, distinctive facial features (a broad, prominent forehead, a small, pointed chin, and deep-set eyes), and ophthalmologic defects such as a white ring on the cornea.

The prevalence of ALGS is estimated to be between 1 in 30,000 and 1 in 100,000 live births. The disorder usually manifests in infancy or early childhood, but it can be difficult to diagnose because the severity of symptoms can vary greatly between patients. Sometimes the symptoms are so mild that they go unnoticed, and sometimes they are life-threatening (liver failure).

There is no cure for Alagille syndrome, but the condition can be managed to prevent or minimize complications and improve patients’ quality of life. Common treatments include medications to improve bile flow, medications and skincare products to reduce itching, vitamin supplements to prevent vitamin deficiencies, and a high-calorie diet. In more severe cases, surgery may be used to redirect the flow of bile and improve drainage. About 15% of patients eventually require a liver transplant due to significant liver damage.

International Alagille Syndrome Awareness Day is observed on January 24 in honor of Daniel Alagille’s birthday. Its main goal is to raise awareness of this rare disorder and to promote research and access to care for patients. You can get involved by learning about ALGS, donating to an organization that helps ALGS patients or funds research, and spreading the word on social media using the hashtag #ALGSAwarenessDay.