ALGS is a rare genetic condition that can affect many systems of the body including the liver, heart, skeleton, eyes and kidneys. Patients have fewer than the normal number of small bile ducts inside the liver, which can interfere with liver function and the digestive system. Symptoms and severity of the disease can vary greatly from one person to another. Symptoms often emerge during the first three months of life, although the disease can be difficult to diagnose because it is so rare. Patients often experience cholestasis, or blockage of the flow of bile from the liver, as well as symptoms such as jaundice, poor weight gain and growth, severe itching (pruritus) and pale, loose stools.
Symptoms often interfere with sleep for patients and their families and can significantly affect quality of life in a multitude of other ways. Bile acid accumulation leads to progressive liver damage, with many patients needing a liver transplant. Current standard of care involves an invasive and disfiguring surgical procedure or liver transplant. No disease-modifying drug therapy exists today.