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Elderly onset congenital hepatic fibrosis with portal hypertension diagnosed after recurrent cholangitis: a case report


Congenital hepatic fibrosis is a rare autosomal recessive disorder caused by ductal plate malformation that can manifest as hepatic fibrosis alone or as a component in various fibropolycystic diseases including renal involvement. It is often diagnosed early in life, presenting with ascites and esophageal variceal bleeding due to non-cirrhotic portal hypertension. Here, we report a rare case of congenital hepatic fibrosis with portal hypertension diagnosed at an advanced age. A 78-year-old woman with a 6 history of recurrent cholangitis experienced abdominal distension. Imaging revealed ascites and esophageal varices. Histopathologic analysis of the liver revealed the fibrous expansion of portal tracts accompanying increased bile ducts with irregular contours in the portal area. These characteristic findings are consistent with the diagnosis of congenital hepatic fibrosis. The present case showed an extremely unique clinical course, because she did not develop any associated renal abnormalities or any disease-related symptoms until old age. Because of the variability of this disease, the slowly progressive type may be difficult to diagnose and cause non-cirrhotic portal hypertension even in the elderly. Although an unusual clinical course may suggest the presence of the disease, timely histologic assessment is crucial for the definitive diagnosis of congenital hepatic fibrosis.

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Congenital hepatic fibrosis


Ursodeoxycholic acid


Computed tomography


Magnetic resonance cholangiopancreatography


Upper gastrointestinal endoscopy

COACH syndrome:

Cerebellar vermis defect, oligophrenia, ataxia, coloboma, and hepatic fibrosis syndrome


  1. Zhu B, Du Z, Wang Z, et al. Congenital hepatic fibrosis in children and adults: clinical manifestations, management, and outcome-case series and literature review. Gastroenterol Res Pract. 2020;2020:8284274.

    PubMed  PubMed Central  Google Scholar 

  2. Kerr DN, Harrison CV, Sherlock S, et al. Congenital hepatic fibrosis. Q J Med. 1961;30:91–117.

    CAS  PubMed  Google Scholar 

  3. Parkash A, Cheema HA, Malik HS, et al. Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore. J Pak Med Assoc. 2016;66:984–8.

    PubMed  Google Scholar 

  4. Rock N, McLin V. Liver involvement in children with ciliopathies. Clin Res Hepatol Gastroenterol. 2014;38:407–14.

    CAS  Article  Google Scholar 

  5. Vajro P, Ferrante L, Lenta S, et al. Management of adults with paediatric-onset chronic liver disease: strategic issues for transition care. Dig Liver Dis. 2014;46:295–301.

    Article  Google Scholar 

  6. Srinath A, Shneider BL. Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2012;54:580–7.

    Article  Google Scholar 

  7. Acharyya BC, Goenka MK, Chatterjee S, et al. Dealing with congenital hepatic fibrosis? Remember COACH syndrome. Clin J Gastroenterol. 2014;7:48–51.

    CAS  Article  Google Scholar 

  8. Janowski K, Goliszek M, Cielecka-Kuszyk J, et al. Congenital hepatic fibrosis in a 9-year-old female patient—a case report. Clin Exp Hepatol. 2017;3:176–9.

    Article  Google Scholar 

  9. Vogel I, Ott P, Lildballe D, et al. Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship. Clin Case Rep. 2017;5:1098–102.

    Article  Google Scholar 

  10. Usta M, Urganci N, Özçelik G, et al. Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood. Eur Rev Med Pharmacol Sci. 2015;19:2297–300.

    CAS  PubMed  Google Scholar 

  11. Bayraktar Y, Yonem O, Varlı K, et al. Novel variant syndrome associated with congenital hepatic fibrosis. World J Clin Cases. 2015;3:904–10.

    Article  Google Scholar 

  12. Pawar S, Zanwar V, Mohite A, et al. A family of congenital hepatic fibrosis and atypical retinitis pigmentosa. Clin Pract. 2015;5:792.

    Article  Google Scholar 

  13. Al Sarkhy A, Hassan S, Alasmi M, et al. Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association. Ann Saudi Med. 2014;34:81–3.

    Article  Google Scholar 

  14. Mi XX, Li XG, Wang ZR, et al. Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report. Diagn Pathol. 2017;12:61.

    Article  Google Scholar 

  15. Paradis V, Bioulac-Sage P, Balabaud C. Congenital hepatic fibrosis with multiple HNF1α hepatocellular adenomas. Clin Res Hepatol Gastroenterol. 2014;38:e115–6.

    Article  Google Scholar 

  16. Kadakia N, Lobritto SJ, Ovchinsky N, et al. A challenging case of hepatoblastoma concomitant with autosomal recessive polycystic kidney disease and Caroli syndrome-review of the literature. Front Pediatr. 2017;5:114.

    Article  Google Scholar 

  17. Fauvert R, Benhamon JP. Congenital hepatic fibrosis in liver and disease. New York: Intercontinental Med. Book; 1974. p. 283–8.

    Google Scholar 

  18. Desmet VJ. What is congenital hepatic fibrosis? Histopathology. 1992;20:465–77.

    CAS  Article  Google Scholar 

  19. Shorbagi A, Bayraktar Y. Experience of a single center with congenital hepatic fibrosis: a review of the literature. World J Gastroenterol. 2010;16:683–90.

    CAS  Article  Google Scholar 

  20. Rawat D, Kelly DA, Milford DV, et al. Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis. J Pediatr Gastroenterol Nutr. 2013;57:161–6.

    Article  Google Scholar 

  21. Manes JL, Kissane JM, Valdes AJ. Congenital hepatic fibrosis, liver cell carcinoma and adult polycystic kidneys. Cancer. 1977;39:2619–23.

    CAS  Article  Google Scholar 

  22. Bogomoletz WV, Lefaucher C. Congenital hepatic fibrosis (asymptomatic and latent form) and multiple gastric ulcers. Dig Dis Sci. 1979;24:887–90.

    CAS  Article  Google Scholar 

  23. Schlichting P, Henriksen JH. Congenital hepatic fibrosis, Cruveilhier-Baumgarten syndrome and splenic artery aneurysms in a 62-year-old woman. Dan Med Bull. 1979;26:101–3.

    CAS  PubMed  Google Scholar 

  24. Chen KT. Adenocarcinoma of the liver Association with congenital hepatic fibrosis and Caroli’s disease. Arch Pathol Lab Med. 1981;105:294–5.

    CAS  PubMed  Google Scholar 

  25. Yamato T, Sasaki M, Hoso M, et al. Intrahepatic cholangiocarcinoma arising in congenital hepatic fibrosis: report of an autopsy case. J Hepatol. 1998;28:717–22.

    CAS  Article  Google Scholar 

  26. Taneda S, Honda K, Aoki A, et al. An autopsy case of clinically un-diagnosed autosomal recessive polycystic kidney disease in 77-year-old male. Pathol Int. 2012;62:811–6.

    Article  Google Scholar 

  27. Alsomali MI, Yearsley MM, Levin DM, et al. Diagnosis of congenital hepatic fibrosis in adulthood. Am J Clin Pathol. 2020;153:119–25.

    Article  Google Scholar 

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This research was partially supported by AMED under Grant Number JP21fk0210077, JP21fk0210047, and JP21fk0210058.

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Correspondence to Yasunari Nakamoto.

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Takahashi, K., Ofuji, K., Nosaka, T. et al. Elderly onset congenital hepatic fibrosis with portal hypertension diagnosed after recurrent cholangitis: a case report. Clin J Gastroenterol 15, 611–616 (2022).

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  • Congenital hepatic fibrosis
  • Non-cirrhotic portal hypertension
  • Elderly