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Congenital hepatic fibrosis in Indian children
U Poddar1, B R Thapa, R K Vashishta
1Department of Gastroenterology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. medinst@pgi.chd.nic.in
Insights
Congenital hepatic fibrosis (CHF) is rare in India and typically sporadic. Endoscopic sclerotherapy effectively manages variceal bleeding, leading to a good prognosis, especially without kidney issues.
Area of Science:
- Pediatric Gastroenterology
- Hepatology
- Rare Diseases
Background:
- Congenital hepatic fibrosis (CHF) is an uncommon cause of pediatric portal hypertension.
- This study investigates the clinical presentation of CHF in North Indian children, a region with no prior reports.
- Understanding CHF's spectrum is crucial for early diagnosis and management.
Purpose of the Study:
- To describe the clinical characteristics and outcomes of congenital hepatic fibrosis in North Indian children.
- To evaluate the effectiveness of endoscopic sclerotherapy for variceal bleeding in this population.
- To assess the association of CHF with other congenital anomalies, particularly renal lesions.
Main Methods:
- A retrospective analysis of 15 children diagnosed with CHF via liver biopsy over 6.5 years.
- Clinical data, including Oesophagogastroduodenoscopy and abdominal ultrasonography, were collected.
- Endoscopic sclerotherapy was used for variceal bleeding management.
Main Results:
- The predominant presentations were variceal bleeding (6/15) and abdominal distension (7/15).
- Hepatomegaly and splenomegaly were common; liver and renal functions were mostly normal.
- Associated anomalies included renal cysts (2/15) and choledochal cysts (2/15).
- Endoscopic sclerotherapy achieved variceal obliteration in 5/6 children.
Conclusions:
- Congenital hepatic fibrosis in India is primarily sporadic, with infrequent associated renal lesions.
- Endoscopic sclerotherapy is an effective treatment for variceal bleeding in CHF.
- The prognosis for CHF is generally good, particularly when renal involvement is absent.
Background:
Congenital hepatic fibrosis (CHF) is an uncommon cause of portal hypertension in children. So far, there is no report of this from the subcontinent. We have studied the clinical spectrum of CHF in North Indian children.
Methods:
Fifteen children were diagnosed with CHF on the basis of their liver histology over a period of 6.5 years. Their clinical details were recorded. Oesophagogastroduodenoscopy and abdominal ultrasonography were performed in all cases. All siblings were examined clinically; and ultrasonography, endoscopy and liver biopsy were performed if there was firm hepatomegaly. Children with variceal bleeding were managed by endoscopic sclerotherapy. The median age of these children was 8 years with a male to female ratio of 1.5:1.
Results:
Only one sibling (of 33) was diagnosed as having CHF. The predominant presentations were variceal bleeding in six, abdominal distension in seven and incidental detection of organomegaly in two. Hepatomegaly was present in all patients and splenomegaly in all but one. Liver function and renal function tests were normal in all children, except for a raised serum alkaline phosphatase in six. Two children had associated renal cysts, two had choledochal cysts, one each had Caroli's disease and biliary atresia and two children had portal vein thrombosis. Variceal obliteration was achieved in five children after an average 4.8 sclerotherapy sessions and one required a mesocaval shunt. On follow up (median 41 months, range 1-80 months) all are doing well.
Conclusions:
Congenital hepatic fibrosis is mainly sporadic in India and associated renal lesions are uncommon. Endoscopic sclerotherapy is effective in controlling variceal bleed and the prognosis is universally good in the absence of renal diseases.