By Dr. Muhammad Shafiq
Medical “C” Ward
Ayub Teaching Hospital,
A 17 year boy presented to our medical unit with
complaints of :
Hematemeseis – 3 episodes in the last 2 days. Blood
was fresh and in last episode patient vomited appr.
300ml of blood.
Melena – 1 day
Soon after admission patient became drowsy.
No history of Fever or Pain abdomen.
Patient had 2 episodes of hematemesis in the last 3
years for which he was admitted in the hospital and
endoscopy was performed which revealed lower
oesophageal varices and band ligation was done.
Six pints of blood were also transfused
Patient had no history of hepatitis B or C.
Patient had history of consanguinous marriages in his
family. Parents were also first cousins.
Parents were alive and healthy
Patient had 8 siblings. Two of of them had
hepatosplenomgaly and recurrent episodes of
hemetamesis till they died in twenties.
An ill looking, pale boy of moderate built lying on the
bed drowsy and non-cooperative appeared to be in
Pulse = 108 bpm
RR = 16/min
BP = 90/50 mmhg
Jaundice = Nil
Pallor = Present
No palmer erythema, clubbing, leuconychia, spider
naevi, gynecomastia, loss of body hair, asterixis or
No petechiae or echymoses found.
Abdomen was soft, slightly distended, tender in RHC.
Hepatosplenomegaly was present. Shifting dullness was
present with mild to moderate ascites. Bowel sounds were
audible on auscultation.
CVS / Respiration
No abnormal findings were found.
Oriented but drowsy
No KF ring found on slit lamp examination
• Stool Culture
• Fecal Leukocytes
• Stool Ova and Parasites
• ANA, AMA
• Ceruloplasmin, anti-trypsin
• Tests for Thrombophilia
• Anti-Schistosomal Antibodies
CXR = Normal
USG Abdomen = Hepatomegaly with increased echogenicity
and intrahepatic biliary dilatation.
Splenomegaly with portal hypertension and mild
to moderate ascites. Normal size and hyperechoic texture
of both kidneys with no cyst.
Liver Biopsy= Abnormally shaped bile ducts with
periportal fibrosis. Normal Hepatic parenchyma.
CHF is an autosomal recessive developmental disorder
There is defective remodeling of the ductal plate
(ductal plate malformation) resulting in >>>
abnormal branching of the intrahepatic portal veins
and progressive fibrosis of portal tracts.
It may cause cystic dilatation of the intrahepatic bile
CHF occurs alone or in association with ciliopathies
resulting in renal disease called hepatorenal fibrocystic
Caroli syndrome vs CHF: Caroli syndrome has
presntation like CHF except Cystic changes in liver and
Kidney are more pronounced in caroli.
Aetieology is unknown
Pathogenesis of congenital hepatic fibrosis. Embryological and molecular perspective
Early childhood to Fifth decade
Four forms of CHF
1. Portal Hypertensive (Most Common)
Most patients present with hematemesis, melena, rarely
LFTs – Usually Normal
Hepatomegaly, portal HTN and Hypersplenism
RFTs – Deranged in 20% of patients
CT / MRI
Upper GI Endoscopy
Heterogenous appearance of hepatic parenchyma.
Abdominal computerized tomography (CT) scans of two patients with CHF.
A: White arrows depict cystic dilatations of the biliary tree associated with
Caroli's syndrome; B: Circled area shows portal vein cavernous transformation
The left side of the image depicts a portal area with extensive fibrosis and the
presence of several bile ducts with cuboidal epithelium that have arrested at
different stages of the maturation process. On the right, hepatocytes with
normal morphology may be seen
Portal Hypertension with Bleeding OV
• No therapies can repair :
Primary ductal plate malformation or
Reverse the fibrosis or biliary tree abnormalities.
• Complications of CHF: are treated in a routine supportive
manner. These include;
Cholangitis and biliary stones
Cholangio and hepatocellular carcinomas
Prevention of secondary complications:
immunization for hepatitis A and B
To avoid: alcohol, obesity, malnutrition,
immunosuppression, hepatotoxic medicines and
NSAIDs in those with varices because of the increased
risk of bleeding; contact sports/activities in those with
splenomegaly because of the increased risk of splenic
Back to our patient….
• our patient: was managed acutely with ..
• outcome: patient continued to bleed from OV until he was
referred for upper GI endoscopy which revealed bleeding
varices and required 4 band ligations to stabilize.
Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet. 2007;28:113–25. [PubMed]
Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC. Clinical and molecular
characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006;85:1–
Akhan O, Karaosmanoglu AD, Ergen B. Imaging findings in congenital hepatic fibrosis. Eur J Radiol. 2007;61:18–24. [PubMed]
Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder H. A disease causing deletion of 29 base pairs in intron 15 in the MKS1
gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. Clin Genet. 2007;72:454–9. [PubMed]
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C,
Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrere AM, Francannet C, Tantau
J, Sinico M, Dumez Y, Macdonald F, Munnich A, Lyonnet S, Gubler MC, Genin E, Johnson CA, Vekemans M, Encha-Razavi F, Attie-Bitach T.
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet. 2007;81:170–9. [PMC free article] [PubMed]
Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet.
Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C,
Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T,
Walz G, Benzing T, Zerres K, Omran H. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs
inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008;82:959–70. [PMC free article] [PubMed]
Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schoneborn S, Furu L, Onuchic LF, De Baca M, Germino GG,
Guay-Woodford L, Somlo S, Moser M, Buttner R, Zerres K. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease
(ARPKD/PKHD1). J Am Soc Nephrol. 2003;14:76–89. [PubMed]
Bosch J, Berzigotti A, Garcia-Pagan JC, Abraldes JG. The management of portal hypertension: rational basis, available treatments and future
options. J Hepatol. 2008;48 Suppl 1:S68–9. [PubMed]
Brancatelli G, Federle MP, Vilgrain V, Vullierme MP, Marin D, Lagalla R. Fibropolycystic liver disease: CT and MR imaging findings.
Radiographics. 2005;25:659–70. [PubMed]