Fatal intrahepatic cholestasis syndrome, also known as Byler disease; Fatal Familial Intrahepatic Cholestasis Syndrome; Familial intrahepatic cholestatic jaundice; Infantile cholestasis syndrome: Type IV - Progressive intrahepatic cholestasis.

bubble_chart Etiology

It is an autosomal recessive inheritance, possibly caused by congenital hereditary metabolic abnormalities in bile acid metabolism, leading to disturbances in transport and excretion, resulting in cholestasis.

bubble_chart Clinical Manifestations

This disease is rare, presenting with recurrent jaundice in the neonatal period that gradually worsens, accompanied by cutaneous pruritus, epistaxis, hepatosplenomegaly, steatorrhea, foul-smelling and pale stools. It may also manifest jaundice several months after birth, with patients experiencing dysphoria, restlessness, malabsorption, growth retardation, and rickets.

bubble_chart Auxiliary Examination

The serum total bilirubin is increased, predominantly with conjugated bilirubin elevation, serum alkaline phosphatase is elevated, cholesterol is normal or decreased, and prothrombin time is prolonged; urine bilirubin is positive; and fatty globules are present in the stool.

bubble_chart Diagnosis

In families with blood relations, when recurrent jaundice appears from early infancy, accompanied by steatorrhea, hepatosplenomegaly, and dwarfism, this syndrome should be considered. Laboratory tests and liver biopsy are helpful for the diagnosis of this disease.

bubble_chart Treatment Measures

The main treatment is symptomatic, and phenobarbital, cholestyramine, and adrenocortical hormones can be used to alleviate symptoms.

bubble_chart Differentiation