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Ductular hypoplasia (Alagille syndrome)
Last reviewed: 07.07.2025
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[ Symptoms of ductular hypoplasia (Alagille syndrome)?
D. Alagille distinguishes between isolated ductular hypoplasia and syndromic hypoplasia, combined with other visceral anomalies.
In the first variant (isolated ductular hypoplasia), cholestasis with jaundice appears in the first month of life, and then the disease steadily progresses, up to the formation of biliary cirrhosis of the liver. In some children, the disease manifests itself later - in the second year of life; sometimes jaundice may be completely absent, and the development of cholestasis is confirmed only by the presence of skin itching and laboratory indicators.
When ductular hypoplasia is combined with other developmental anomalies, some characteristic signs are revealed. For example, in the facial structure of children with Alagille syndrome, a convex forehead, an enlarged interorbital space (hypertelorism), the position of the eyeballs deep in the orbits, etc. are noticeable. In the cardiovascular system, hypoplasia or stenosis of the pulmonary artery is noted, in some cases - tetralogy of Fallot. Developmental delay is possible, combined with an anomaly in the structure of the vertebrae, and with age this delay becomes less noticeable.
In both variants of dictular hypoplasia, a picture of chronic hepatitis develops. Jaundice may be absent, but a significant increase in liver size is noted early and constantly, mainly due to the left lobe. The consistency of the organ is moderately dense, the surface is smooth. The liver is painless on palpation. The spleen is often enlarged at the same time. Early-onset skin itching is considered characteristic of this pathology. There may be xanthomas on the dorsal surface of the finger joints, palms, neck, popliteal fossa, and inguinal region. Laboratory signs include high cholesterol, total lipids, and elevated alkaline phosphatase levels. In the presence of jaundice, moderate hyperbilirubinemia is noted (2-4-fold increase), mainly due to the conjugated fraction. The increase in transaminase activity fluctuates within small limits.
Differential diagnostic criteria for distinguishing between ductular hypoplasia and chronic hepatitis B include cholestasis and jaundice in the first disease and the absence of these in the second, constant biochemical signs of cholestasis and the absence of HBs antigenemia in ductular hypoplasia.