Congenital Hepatic Fibrosis and Obliterative Portal Venopathy Without Portal Hypertension - A Review of Literature Based on an Asymptomatic Case

Abstract

The disease and the case reported here are relevant especially because of their varied clinical presentation, possibility of being associated with other disorders affecting several organs and possible differential diagnoses. Congenital Hepatic Fibrosis is an autosomal recessive disease due to mutation in the PKHD1 gene, which encodes the fibrocystin/polyductine protein. It is a cholangiopathy, characterized by varying degrees of periportal fibrosis and irregular proliferation of bile ducts. Affected patients are typically diagnosed in childhood, but in some cases the disease may remain asymptomatic for many years. The exact prevalence and incidence of the disease are not known, but it is consider a rare disease, with a few hundred cases described worldwide. It can affect all ethnic groups and occur associated with various hereditary and non-hereditary disorders. The clinical presentation is quite variable, with melena and hematemesis being initial symptoms in 30%-70% of the cases. More rarely, they may present episodes of cholangitis. The disease has been classified into four types: portal hypertension, cholestasis / cholangitis, mixed and latent. Diagnosis begins with imaging tests, but the definition is made by the histopathological sample. So far, there is no specific therapy that can stop or reverse the pathological process. Currently, the therapeutic strategy is to treat the complications of the disease.

Clinical and Paraclinical Findings in Children With Congenital Hepatic Fibrosis: A Single Center 10-Year Study

“…10 In another report from Saudi Arabia, growth retardation was described as the most common finding followed by gastrointestinal bleedings including hematemesis and melena. 9 In line with the current observations, hematemesis and splenomegaly were noted as the most common clinical findings in CHF patients in two studies in Spain 16 and Pakistan. 18 Different presenting complications can be related to different disease stages secondary to delayed diagnosis in some patients.…”

“…Esophageal varices were reported in 71%, 66%, and 100% of CHF patients in studies in the United States, 19 Tunisia, 20 and Saudi Arabia. 9 A significant relationship was found between spleen size and the presence of esophageal varices in the current study. Considering the invasive nature of endoscopy, this is an important finding which can guide physicians to perform this procedure in CHF patients with splenomegaly.…”

“…In the current study, it was noted that patients showed elevated alkaline phosphatase levels, which was in line with a study in Saudi Arabia. 9 Ultrasonography findings further showed increased liver echogenicity, increased liver size, and irregular liver borders in 75%, 90.4%, and 37.5% of patients, respectively. In a study in the United States, 92%, 41%, and 61% of CHF patients had increased echogenicity, size, and irregular borders, respectively.…”

“…In a recent study, the age range of patients presenting with CHF symptoms was 1 to 15 years old. 1,16 The diagnosis age ranged from 7.5-28.4 years in studies conducted in India, 17 Saudi Arabia, 9 Pakistan, 18 and Turkey. 10 The mean age was higher in these precedent studies respective to the current report.…”

“…8 Hepatomegaly, splenomegaly, and enlarged kidneys may also be seen. 9 The paraclinical parameters may encompass mild to severe increases in hepatic enzymes, leukopenia, thrombocytopenia, and abnormal renal functional parameters. 10 A definite diagnosis requires liver histopathological examinations.…”