OVERVIEW
Alagille syndrome, the most common cause of chronic cholestasis with phenotypic features, is a dominantly inherited disorder involving multiple systems. It was first reported in 1969 by Alagille et al. Alagille syndrome involves the liver, heart, bones, eyes, and face, and has been reported to have an incidence of about 1/70,000 in foreign countries, with a recent interest in China.
Causes
Alagille syndrome is a congenital intrahepatic bile duct dysplasia, which is characterized by obvious enlargement of the liver, absence of bile ducts in most of the portal area under the microscope, and sometimes dysplastic bile ducts are seen, which mostly have no obvious lumen, accompanied by obvious siltation phenomenon and mild fibrosis in the portal area, and interstitial fibrosis in the testes.
Symptoms
Both sexes can develop the disease, mild jaundice occurs in the first 3 months of life, intrahepatic cholestasis is the main feature of the disease; severe itching, forehead protrudes, the distance between the eyes and the nose is large, the chin is small and pointed; systolic murmur can be heard in the pulmonary valve; the anterior arch of the spine is cleft and does not merge, there is no spinal lateral protrusion, there is a varying degree of intellectual developmental retardation; testicular dysplasia is present.
Examination.
Pathologic examination by liver puncture, ophthalmologic examination, and spinal radiographs are helpful in early recognition.
Diagnosis
Diagnosis is based on typical symptoms and liver biopsy. The disease can be diagnosed if three or more of the following are present:
1. Intrahepatic bile duct hypoplasia;
2. peripheral pulmonary stenosis;
3. typical facial features;
4. split anterior arch of the spine;
5. more than one person in the immediate family has Alagille syndrome.
Differential Diagnosis
Alagille syndrome is an important cause of chronic cholestatic liver disease in infancy. The syndrome is difficult to diagnose at an early stage and can be easily misdiagnosed as biliary atresia, which requires vigilance in clinical practice. Early recognition and correct diagnosis can be facilitated by pathologic examination of the liver by puncture, ophthalmologic examination, and spinal radiographs.
Treatment
There is no specific therapy; anticholinergic or herbal medicines may be given to treat cholestasis and supplement fat-soluble vitamins.