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  1. 1. By Dr. Muhammad Shafiq Medical “C” Ward Ayub Teaching Hospital, Abbottabad.
  2. 2. 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.
  3. 3. 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.
  4. 4.  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.
  5. 5.  An ill looking, pale boy of moderate built lying on the bed drowsy and non-cooperative appeared to be in distress.  Pulse = 108 bpm  Afebrile  RR = 16/min  BP = 90/50 mmhg  Jaundice = Nil
  6. 6.  Pallor = Present  No palmer erythema, clubbing, leuconychia, spider naevi, gynecomastia, loss of body hair, asterixis or oedema.  No petechiae or echymoses found.
  7. 7.  GIT 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.  CNS Oriented but drowsy  Ophthalmoscopic Examination No KF ring found on slit lamp examination
  8. 8.  FBC – Hb = 8.3 g/dl PLT = 88000 TLC = 3,100  HBsAg & Anti HCV – Negative  Blood Urea = 56.3 mg/dl  Serum Creatinine = 141 micromol/l  Sodium = 136 mmol/l  Potassium = 4.4 mmol/l  RBS = 126 mg/dl
  9. 9.  ALT = 48 iu/l  ALP = 137 iu/l  Bilirubin = 16.5 micromol/l  PT = 16/14  APTT = 35/32  ESR = 21 mm 1st hour  Ferritin = 143 microg/l(normal)  24 hour urinary Copper = 23 microgram(normal)  Serum Ceruloplasmin = 31 microg/dl(normal)
  10. 10. • Stool Culture • Fecal Leukocytes • Stool Ova and Parasites • ANA, AMA • Ceruloplasmin, anti-trypsin • Tests for Thrombophilia • Anti-Schistosomal Antibodies
  11. 11.  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.
  12. 12. caroli syndrome
  13. 13. Intrahepatic Presinusoidal Schistosomiasis Idiopathic portal hypertension/Noncirrhotic portal fibrosis/Hepatoportal sclerosis Primary biliary cirrhosis Sarcoidosis Congenital hepatic fibrosis Sclerosing cholangitis Hepatic arteriopetal fistula Sinusoidal Arsenic poisoning Vinyl chloride toxicity Vitamin A toxicity Nodular regenerative hyperplasia Postsinusoidal Sinusoidal obstruction syndrome (Veno- occlusive disease) Budd-Chiari syndrome Prehepatic Portal vein thrombosis Splenic vein thombosis Splanchnic arteriovenous fistula Splenomegaly (lymphoma, Gaucher's disease) Posthepatic IVC obstruction Cardiac disease (constrictive pericarditis, restrictive cardiomyopathy) caroli syndrome
  14. 14.  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.
  15. 15. Clinical findings include:  hepatomegaly  relatively well-presed hepatocellular function  portal hypertension (PH) resulting in >>> splenomegaly hypersplenism gastroesophageal varice.
  16. 16.  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
  17. 17. Pathogenesis of congenital hepatic fibrosis. Embryological and molecular perspective
  18. 18. Pattern of inheritance in CHF
  19. 19.  Early childhood to Fifth decade  Four forms of CHF 1. Portal Hypertensive (Most Common) 2. Cholangitic 3. Mixed 4. Latent Most patients present with hematemesis, melena, rarely pain RHC.
  20. 20.  LFTs – Usually Normal  Hepatomegaly, portal HTN and Hypersplenism  RFTs – Deranged in 20% of patients  Ultrasonography  CT / MRI  Upper GI Endoscopy  Liver Biopsy
  21. 21. Heterogenous appearance of hepatic parenchyma.
  22. 22. 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
  23. 23. 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
  24. 24.  Portal Hypertension with Bleeding OV  Cholangitis  Stone Formation  Cirrhosis  Cholangiocarcinoma
  25. 25. • 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 .
  26. 26.  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 injury.  Genetic councelling
  27. 27. 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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