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

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

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Funding

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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All procedures followed have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its latter amendments.

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Informed consent was obtained from the patient included in the study.

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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

Keywords

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