Alagille Syndrome

Abstract

Alagille syndrome is a complex multisystem autosomal dominant disorder with a wide variability in penetrance of clinical features. A majority of patients have pathogenic mutations in either the JAG1 gene, encoding a Notch pathway ligand, or the receptor NOTCH2. No genotype-phenotype correlations have been found in any organ system. Liver disease is a major cause of morbidity in this population, whereas cardiac and vascular involvement accounts for most of the mortality. Current therapies are supportive, but the future is promising for the development of targeted interventions to augment Notch pathway signaling in involved tissues.

Livedo racemosa in neurological diseases: an update on the differential diagnoses

“…Diagnostic criteria include the presence of intrahepatic bile duct paucity and at least three of the following clinical features: chronic cholestasis, cardiac disease, ocular abnormalities, skeletal abnormalities or characteristic facial features. Congenital cardiac disorders and ocular abnormalities, in particular embryotoxon, are common and should raise suspicion [53,54].…”

“…Treatment is supportive and involves, apart from the medical management of symptoms, liver or kidney transplantation. Recently, targeted interventions to enhance NOTCH-pathway signaling are being developed [54].…”

Inherited Cholestatic Diseases in the Era of Personalized Medicine

“…The extrahepatic manifestations are summarized in Fig. and include vascular, facial, ocular, cardiac, vertebral, and renal anomalies . There is great variability in penetrance of disease.…”

“…2 and include vascular, facial, ocular, cardiac, vertebral, and renal anomalies. 7,8 There is great variability in penetrance of disease. Traditionally the diagnosis of ALGS was based on having three of the following five criteria: cholestasis, abnormal facies, posterior embryotoxon, cardiac defects, and vertebral anomalies.…”

A 6-month-old boy presented with progressive jaundice, dark urine and generalized pruritus for one month

“…This is seen more rarely and there are only a few reports in our country about this disease. [24][25][26] The mainstay of treatment is symptomatic relief of pruritus, optimization of nutritional status, and management of complications of chronic liver disease. All the infants and children who presented with cholestasis were treated with fat-soluble vitamins.…”