CONGENITAL HEPATIC FIBROSIS AND OBLITERATIVE PORTAL VENOPATHY WITHOUT PORTAL HYPERTENSION - A REVIEW OF LITERATURE BASED ON AN ASYMPTOMATIC CASE

• Published in: Arquivos de gastroenterologia Vol. 55; no. 4; pp. 324 - 328
• Main Authors: Guerra, Juliana Arrais, Kampa, Kátia Cristina, Zapparoli, Maurício, Alves, Venâncio Af, Ivantes, Cláudia Alexandra Pontes
• Format: Journal Article
• Language: English
• Published: Brazil Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE 01-10-2018; Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE)
• Subjects: Asymptomatic Diseases; Cirrose hepática; Doenças renais policísticas; GASTROENTEROLOGY & HEPATOLOGY; Genetic Diseases, Inborn - complications; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - therapy; Hipertensão portal; Humans; Hypertension, Portal - complications; Hypertension, Portal - diagnosis; Hypertension, Portal - therapy; Incidental Findings; Liver Cirrhosis - complications; Liver Cirrhosis - congenital; Liver Cirrhosis - diagnosis; Liver Cirrhosis - therapy; Male; Middle Aged; Polycystic Kidney Diseases - complications; Polycystic Kidney Diseases - diagnosis; Polycystic Kidney Diseases - therapy; Polycystic kidney diseases; Hipertensão portal; Cirrose hepática; Liver cirrhosis; Doenças renais policísticas; Portal hypertension
• ISSN: 0004-2803; 1678-4219; 1678-4219
• DOI: 10.1590/s0004-2803.201800000-91

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.