Abstract
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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Abbreviations
- CHF:
-
Congenital hepatic fibrosis
- UDCA:
-
Ursodeoxycholic acid
- CT:
-
Computed tomography
- MRCP:
-
Magnetic resonance cholangiopancreatography
- UGE:
-
Upper gastrointestinal endoscopy
- COACH syndrome:
-
Cerebellar vermis defect, oligophrenia, ataxia, coloboma, and hepatic fibrosis syndrome
References
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.
Kerr DN, Harrison CV, Sherlock S, et al. Congenital hepatic fibrosis. Q J Med. 1961;30:91–117.
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.
Rock N, McLin V. Liver involvement in children with ciliopathies. Clin Res Hepatol Gastroenterol. 2014;38:407–14.
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.
Srinath A, Shneider BL. Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2012;54:580–7.
Acharyya BC, Goenka MK, Chatterjee S, et al. Dealing with congenital hepatic fibrosis? Remember COACH syndrome. Clin J Gastroenterol. 2014;7:48–51.
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.
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.
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.
Bayraktar Y, Yonem O, Varlı K, et al. Novel variant syndrome associated with congenital hepatic fibrosis. World J Clin Cases. 2015;3:904–10.
Pawar S, Zanwar V, Mohite A, et al. A family of congenital hepatic fibrosis and atypical retinitis pigmentosa. Clin Pract. 2015;5:792.
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.
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.
Paradis V, Bioulac-Sage P, Balabaud C. Congenital hepatic fibrosis with multiple HNF1α hepatocellular adenomas. Clin Res Hepatol Gastroenterol. 2014;38:e115–6.
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.
Fauvert R, Benhamon JP. Congenital hepatic fibrosis in liver and disease. New York: Intercontinental Med. Book; 1974. p. 283–8.
Desmet VJ. What is congenital hepatic fibrosis? Histopathology. 1992;20:465–77.
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.
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.
Manes JL, Kissane JM, Valdes AJ. Congenital hepatic fibrosis, liver cell carcinoma and adult polycystic kidneys. Cancer. 1977;39:2619–23.
Bogomoletz WV, Lefaucher C. Congenital hepatic fibrosis (asymptomatic and latent form) and multiple gastric ulcers. Dig Dis Sci. 1979;24:887–90.
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.
Chen KT. Adenocarcinoma of the liver Association with congenital hepatic fibrosis and Caroli’s disease. Arch Pathol Lab Med. 1981;105:294–5.
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.
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.
Alsomali MI, Yearsley MM, Levin DM, et al. Diagnosis of congenital hepatic fibrosis in adulthood. Am J Clin Pathol. 2020;153:119–25.
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This research was partially supported by AMED under Grant Number JP21fk0210077, JP21fk0210047, and JP21fk0210058.
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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). https://doi.org/10.1007/s12328-022-01620-w
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DOI: https://doi.org/10.1007/s12328-022-01620-w