Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis

Orphanet Journal of Rare Diseases. 2010;5(1):4 DOI 10.1186/1750-1172-5-4


Journal Homepage

Journal Title: Orphanet Journal of Rare Diseases

ISSN: 1750-1172 (Online)

Publisher: BMC

Society/Institution: Orphanet

LCC Subject Category: Medicine

Country of publisher: United Kingdom

Language of fulltext: English

Full-text formats available: PDF, HTML



Poala Serena

Bisogno Gianni

Colombatti Raffaella


Blind peer review

Editorial Board

Instructions for authors

Time From Submission to Publication: 16 weeks


Abstract | Full Text

<p>Abstract</p> <p>Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease that primarily affects the hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Firm or hard hepatomegaly is present nearly in all patients, often with a prominent left lobe, and this is usually one of the presenting signs. The haematological manifestations due to hypersplenism generally arise when the other gastrointestinal manifestations are clearly developed. We describe the first case of CHF presenting in an otherwise healthy child, with thrombocytopenia and splenomegaly as the only manifestations of the disease.</p>