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[Alagille's syndrome: a family case and its association with hepatocellular carcinoma]
E Pérez Becerra1, M Fuster, M Fraga
1Departamento de Anatomía Patológica, Facultad de Medicina, Hospital Clínico Universitario, Santiago de Compostela.
Insights
This report details two Alagille syndrome cases in a father and son. The father developed hepatocarcinoma, highlighting a rare association with Alagille syndrome and emphasizing long-term survival despite the condition.
Area of Science:
- Hepatology
- Genetics
- Pediatrics
Background:
- Alagille syndrome is a genetic disorder affecting the liver, heart, and other organs.
- It is characterized by a reduced number of bile ducts in the liver, leading to cholestasis.
- Hepatocarcinoma is a rare but serious complication associated with Alagille syndrome.
Observation:
- A 6-year-old boy presented with neonatal cholestasis, pruritus, and characteristic Alagille syndrome phenotype.
- Liver biopsy confirmed the absence of intrahepatic bile ducts.
- The boy's father, diagnosed with Alagille syndrome, died at 43 from hepatocarcinoma, with his liver biopsy also showing absent intrahepatic bile ducts.
Findings:
- This case highlights the father-son transmission of Alagille syndrome.
- It documents a rare association between Alagille syndrome and hepatocarcinoma, previously reported in six cases.
- The father's long survival and reproductive success despite Alagille syndrome and hepatocarcinoma are noteworthy.
Implications:
- This case underscores the importance of long-term monitoring for complications like hepatocarcinoma in Alagille syndrome patients.
- It contributes to understanding the genetic and clinical spectrum of Alagille syndrome.
- Further research may elucidate the mechanisms linking Alagille syndrome to hepatocarcinogenesis and long-term survival factors.
Abstract:
Two cases of Alagille syndrome are reported, father and son. This, a 6-year-old boy, presented with neonatal cholestasis but thereafter evolved with progressively decreasing jaundice and persisting pruritus. A liver biopsy confirmed the absence of intrahepatic bile ducts with preservation of hepatic architecture and no fibrosis. The patient had a characteristic phenotype: short stature, triangular face, deep eyes with hypertelorism, partial embryotoxon and data of peripheral pulmonary artery stenosis. His father died 43-year-old by a hepatocarcinoma. His liver biopsy showed also absence of intrahepatic bile ducts. In addition to the association Alagille's syndrome hepatocarcinoma (previously reported in six cases, three into the same family), it should be stressed in this case the long survival and the fact he had many children: the case with Alagille's syndrome, five children in good health, and one who died shortly after birth.