Alagille syndrome (ALGS) is a rare genetic disorder characterized by bile duct aplasia accompanied by cholestatic liver disease and multisystem involvement, including typical facial features, congenital heart anomalies, butterfly vertebrae, ophthalmologic abnormalities, and renal anomalies. It is associated with mutations in cell signaling pathway genes such as JAG1 (Jagged Canonical Notch Ligand 1) and NOTCH2 (Notch Receptor 2)1 . Its reported incidence ranges from 1 in 70,000 to 1 in 100,000; however, with the development of molecular screening tests, the true prevalence is estimated to be approximately 1 in 30,0002. Due to the absence of bile ducts, bile flow to the intestine is impaired in ALGS, which may lead to vitamin K deficiency, prolonged INR, and bleeding manifestations. In this study, we present a patient with Alagille syndrome who developed severe coagulopathy and bleeding manifestations due to vitamin K deficiency associated with cholestasis. Clinical findings, laboratory results, imaging studies, and treatment response were evaluated. Alagille syndrome may present with vitamin K deficiency–related coagulopathy and bleeding due to impaired bile flow and fat-soluble vitamin malabsorption. Therefore, monitoring coagulation parameters and early recognition of vitamin deficiencies are important for preventing bleeding complications in patients with ALGS.
Yavuz et al. (Mon,) studied this question.