Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review

Abstract

Background. Congenital hepatic fibrosis is a hereditary fibropolycystic disease caused by ductal plate malformation. It is characterized by portal hypertension, but the manifestations, management, and outcome vary in children and adults. To raise awareness of medical staff, we have comprehensively compared the clinical features of congenital hepatic fibrosis between children and adults. Methods. We retrospectively enrolled all patients diagnosed with congenital hepatic fibrosis at the Huashan Hospital from August 2015 to August 2017 and analyzed their familial, clinical, laboratory, imaging, treatment, and follow-up data in detail. In addition, we reviewed cases with congenital hepatic fibrosis reported in the past 20 years in China and analyzed them according to the patients’ age. Results. A total of eight patients were diagnosed with congenital hepatic fibrosis in the study, including four children and four adults. The onset age of the children, who suffered from severe complications of portal hypertension and needed liver transplantation, ranged from 1 to 15 years old. The disorder developed in adults aged 26 to 60 years old. Three adults complained of recurrent abnormal liver function at the onset of illness, and they mainly received conservative treatments. The literature review included 30 children and 33 adults. In comparison, hepatomegaly was more common in children than in adults (57% vs. 21%, p=0.004). Malformation of kidneys and bile duct abnormalities were common, and multisystem involvement included eyes, other digestive organs, and genital and central nervous systems. Conclusions. Serious complications of portal hypertension developed in children requiring liver transplantation, while adults often had mild-to-moderate liver injuries upon onset. Adults with CHF varied a lot in clinical manifestations. Multiorgan involvement and unusual course are helpful to make a diagnosis. Timely histological assessment by liver biopsy and multidisciplinary cooperation are crucial for definitive diagnosis and early intervention.

Caroli’s Syndrome: An Early Presentation

“…Our patient presented with similar clinical manifestations, with the exception of right-lobe predominant hepatomegaly. Children have a more severe and classical phenotype than adults and more severe complications of portal hypertension [ 11 ].…”

“…If these fail, they should undergo portosystemic shunting and splenectomy. Eventually, these patients will need a liver and/or renal transplant [ 5 , 11 ]. There are no guidelines on when a dual liver and kidney transplantation for ARPKD/CHF is needed [ 2 ].…”

Nichtzirrhotische portale Hypertension – Ursachen und praktisches Management

“…präsinusoidale und sinusoidale NCPH. Neben angeborenen Defekten, wie der polyzystischen Lebererkrankung [11] oder der kongenitalen hepatischen Fibrose [12], können intrahepatische Infiltrationen der Pfortader durch Lymphome oder chronische lymphatische Leukämie [13] sowie granulomatöse Erkrankungen, wie die Sarkoidose [14] und die Schistosomiasis, zur NCPH führen [15]. Zusätzlich können auch Speichererkrankungen, wie Amyloidose oder Morbus Gaucher, eine sinusoidale NCPH auslösen [16,17].…”

Congenital hepatic fibrosis in a young boy with congenital hypothyroidism: A case report

“…CHF is a fibropolycystic disease and is characterized by variable degrees of periportal fibrosis and malformation of bile ducts[ 2 , 3 ]. The prevalence of CHF is 1/10000-1/20000 in newborns[ 3 , 4 ]. CHF usually emerges in adolescence and early adulthood, and the clinical presentation of CHF varies greatly[ 4 , 5 ].…”