By Dr. Muhammad Shafiq

CASE PRESENTATION

Medical “C” WardAyub Teaching Hospital,Abbottabad.

HISTORY

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 daySoon after admission patient became drowsy.No history of Fever or Pain abdomen.

Past History

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 healthyPatient had 8 siblings. Two of of them had

hepatosplenomgaly and recurrent episodes of hemetamesis till they died in twenties.

Family History

Examination

An ill looking, pale boy of moderate built lying on the bed drowsy and non-cooperative appeared to be in distress.

Pulse = 108 bpmAfebrileRR = 16/minBP = 90/50 mmhgJaundice = Nil

General Physical Examination

Pallor = PresentNo palmer erythema, clubbing, leuconychia, spider

naevi, gynecomastia, loss of body hair, asterixis or oedema.

No petechiae or echymoses found.

GPE contd…

GITAbdomen 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 / RespirationNo abnormal findings were found.CNSOriented but drowsyOphthalmoscopic ExaminationNo KF ring found on slit lamp examination

Systemic Examination

FBC – Hb = 8.3 g/dl PLT = 88000 TLC = 3,100HBsAg & Anti HCV – NegativeBlood Urea = 56.3 mg/dlSerum Creatinine = 141 micromol/lSodium = 136 mmol/lPotassium = 4.4 mmol/lRBS = 126 mg/dl

Investigations

ALT = 48 iu/lALP = 137 iu/lBilirubin = 16.5 micromol/lPT = 16/14APTT = 35/32ESR = 21 mm 1st hourFerritin = 143 microg/l(normal)24 hour urinary Copper = 23 microgram(normal)Serum Ceruloplasmin = 31 microg/dl(normal)

Investigations contd…

Investigation contd

• Stool Culture • Fecal Leukocytes• Stool Ova and Parasites• ANA, AMA• Ceruloplasmin, anti-trypsin• Tests for Thrombophilia• Anti-Schistosomal Antibodies

Investigations contd…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.

Differential Diagnosis

caroli syndrome

Intrahepatic

PresinusoidalSchistosomiasisIdiopathic portal hypertension/Noncirrhotic portal fibrosis/Hepatoportal sclerosis

Primary biliary cirrhosisSarcoidosis

Congenital hepatic fibrosisSclerosing cholangitisHepatic arteriopetal fistula

SinusoidalArsenic poisoningVinyl chloride toxicityVitamin A toxicityNodular regenerative hyperplasia

PostsinusoidalSinusoidal obstruction syndrome (Veno-occlusive disease)Budd-Chiari syndrome

PrehepaticPortal vein thrombosis

Splenic vein thombosis

Splanchnic arteriovenous fistula

Splenomegaly (lymphoma, Gaucher's disease)

PosthepaticIVC obstruction

Cardiac disease (constrictive pericarditis, restrictive cardiomyopathy)

caroli syndrome

Congenital Hepatic Fibrosis (CHF)

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

ducts.

Introduction

Clinical findings include: hepatomegaly relatively well-presed hepatocellular function portal hypertension (PH) resulting in >>> splenomegaly hypersplenism gastroesophageal varice.

CHF occurs alone or in association with ciliopathies resulting in renal disease called hepatorenal fibrocystic diseases.

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

Introduction contd…

Pathogenesis of congenital hepatic fibrosis. Embryological and molecular perspective

Pattern of inheritance in CHF

Early childhood to Fifth decadeFour forms of CHF

1. Portal Hypertensive (Most Common)2. Cholangitic3. Mixed 4. Latent

Most patients present with hematemesis, melena, rarely pain RHC.

Presentation

LFTs – Usually Normal Hepatomegaly, portal HTN and HypersplenismRFTs – Deranged in 20% of patientsUltrasonographyCT / MRIUpper GI EndoscopyLiver Biopsy

Workup

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 OVCholangitis Stone FormationCirrhosisCholangiocarcinoma

Complications

• 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;

Variceal bleed

Hypersplenism

Cholangitis and biliary stones

Cholangio and hepatocellular carcinomas

.

Management

Prevention of secondary complications: immunization for hepatitis A and BTo 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 injury.

Genetic councelling

Management contd…

Back to our patient….

• our patient: was managed acutely with .. IV Fluids Vasopressins Blood transfusion Antibiotics

• 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.

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References

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