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Hepatology Case Conference By Soheil Altafi MD 02/24/15.

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Presentation on theme: "Hepatology Case Conference By Soheil Altafi MD 02/24/15."— Presentation transcript:

1 Hepatology Case Conference By Soheil Altafi MD 02/24/15

2 Case 49 AAF seen in Hepatology clinic 2011 PMHx: PSC (dx ~2005 in BR), lung dz (unknown etiology) PSHx: b/l tubal ligation, cholecystectomy c/o pruritis NKDA Meds: urso 600mg bid, omeprazole 20 qd, citalopram, Robitussin prn, Advair, atenolol, MVI, iron qd, Ca/VitD qd SHx: denies tobacco, alcohol, or illicit drug abuse FHx: denies in significant FHx, CRC/gastric CA, autoimmune, IBD

3 Case CTa/p Jan 2010- areas of possible biliary dilatation vs cyst, no evidence of stricture Liver biopsy (bx slides sent from BR- 3/2010)- mild chronic portal and min periportal and lobular inflammation, moderate portal fibrosis Period patient followed by GI in BR- NO RECORDS Admit to TUMC 3/2014- transfer from OSH for abnml LFTS (?) Hx of multiple stents, most recent 11/2013 c/o fever, cough, malaise to GI in BR, routine labs checked, labs concerning for cholangitis, stent removed by GI in BR, then transferred to Tulane

4 Case CC: “chest cold” ROS: reports fever, weakness, malaise, pruritis, SOB, np cough; denies dark urine, light colored stool, jaundice, CP, edema O: PE- VS T37.8, HR115, BP86/49, RR16, SpO2 98% GEN- lethargic, AAOx3 HEENT- anicteric CV- +S1S2, RRR Resp- wheezing diffuse Abd- soft/NT/ND +BS, no HSM, no guarding/rebound Ext- moves all, no edema Skin- nml color, no rash

5 Case Labs CBC- wbc 20.4, H/H 6.3/19, plt 647 BMP- Na136, K2.9, Cl102, CO2-28, BUN-2, Cr 0.7, glu 91 Tbili 0.9, AST 27, ALT 16, ALP 1014, TP 6.7, alb 1.1 PT/INR- 14.4/1.4 CXR- consolidation at bases GI recommendation- suspected biliary obstruction s/p stent removal; PSC; liver dz; probable pneumonia cont Zosyn in setting of suspected cholangitis cont ursodiol for PSC CA19-9 CT a/p+con w/u of resp symptoms- probable pneumonia

6 Case CA19-9: <1 (0-35) CT a/p+dye(3/’14)- consolidations of b/l lung bases, numerous mildly enhancing nodules throughout hepatic parenchyma, multifocal segmental ectasia of biliary ducts w/ IH extension, wall thicken central hep ducts/CBD, pneumobilia, splenomegaly, splenic varices, no pancreatic lesions

7 ERCP – evidence of prior sphincterotomy, wire cannulated CBD, balloon sweep from bifurcation of duct (no stones were seen), balloon occlusion cholangio from bifurcation – left and right hepatic ducts had areas of dilation but no stricturing, intrahepatics with saccules of dilation w/o stricturing, balloon occlusion cholagio at distal duct showed a normal CBD, final balloon sweep w/ minimal resistance.

8 PSC? What is the true diagnosis? Why?

9 Caroli’s Disease Described by Caroli and coworkers in 1958 Caroli J et al. Semin Hop Paris 1958; 34: 128-135

10 Caroli’s Def- congenital d/o, multifocal, segmental dilatation of large intrahepatic bile ducts; usually associated w/ renal cystic disease Two variants Caroli’s disease- less common form, bile ductular ectasia w/o hepatic abnormalities Caroli’s syndrome- more common, bile duct dilatation associated w/ congenital hepatic fibrosis (CHF) Autosomal recessive transmission and associated w/ ARPKD Rare cases occurring w/ ADPKD

11 Caroli’s Molecular pathogenesis incompletely understood ARPKD- mapped gene 6 (6p21-p12)- polycystic kidney and hepatic disease 1 (PKHD1) gene Fibrocystin (4074 AA) The protein shares structural features w/ hepatocyte growth factor receptor Localizes to cilia Belongs to superfamily involved in regulation of: Cell proliferation, adhesion, repulsion Ductal plate malformation during embryogenesis- seen in CHF

12 Fibrocystin Diagram demonstrates the ultrastructure of the fibrocystin (polycystin) molecule, which is expressed in the cilia of both the bile ducts of the liver and collecting ducts of the kidney Turkbey B et al. Pediatr Radiol 2009; 39: 100-111

13 CHF The flow chart illustrates the normal development of the ductal plate from the double cell layer (A, B) to the bile ducts around the portal vein (C) and abnormal ductal plate remodeling (D), which results in dilated bile ducts with abnormal branching and fibrosis in CHF

14 Caroli’s Defective proteins expressed on primary cilia and centrosome complex of renal tubule cells and cholangiocytes Primary cilia non-motile microtubule-based organelle found on luminal surface sense mechanical, chemical, and ostomic stimuli associated with luminal fluid flow urine and bile composition modified as a result ciliary function also essential for normal development of liver and biliary system

15 Caroli’s Pathology Segmental saccular dilatations of large intrahepatic bile ducts Dilated portions are in continuity with rest of the bile tract Sometimes limited to one lobe- MC left lobe Dilated areas of biliary epithelium- hyperplastic and ulcerated Caroli’s syndrome- feaures of congenital hepatic fibrosis Fibrosis and enlargement of portal tracts Abnormally shaped bile ducts Hypoplastic portal vein branches Pathogenesis related to arrest or derangement in remodeling of the ductal plate during development

16 Gross Path Gross pathology sections of liver show multiple saccular dilatations of intrahepatic bile ducts. Septum- like fibrovascular bundles are seen on walls of some cut sacculi (arrow) and traversing lumina of others (arrowhead).

17 Gross Path

18 Clinical Manifestations Age of onset Dependant on predominance of hepatic or renal involvement ARPKD frequently presents in neonates May present as adult with symptoms of portal hypertension or cholangitis Stagnation of bile Due to saccular or fusiform dilatation Leads to formation of bilary sludge and intraductal lithiasis Frequent episodes of bacterial cholangitis c/b septicemia and hepatic abscess formation Secondary biliary cirrhosis Caroli’s syndrome Portal hypertension and its sequelea (ie ascites, variceal bleed) Pruritis and hepatomegaly are common Lab findings Elevated ALP, Dbili Hepatic synthetic function may be preserved initially Coagulopathy from Vit K malabsorption from cholestasis

19 Intraducta l Lithiasis Photograph of the cut surface of the explanted liver shows multiple black bilirubin casts within the intrahepatic bile ducts (arrow). Brancatelli G et al. Radio Graphics 2005; 25: 659-670

20 Diagnosis Imaging (ie ERCP, MRCP, US, PTC) Bile duct ectasia Irregular, cystic dilation of large proximal IHD- “central dot sign” Normal CBD seen in children-> extrahepatic dilatation maybe seen if diagnosed in adults Intrahepatic bile duct calculi May also show renal features of polycystic kidney disease (ARPKD) Liver biopsy- rarely required for dx Broad bands of mature fibrosis tissue and distorted bile duct structures Hypoplasia of portal vein branches DDx Confusion w/ extrahepatic choledochol cysts that can extend intrahepatic Type V choledochol cysts Choledochol cysts are not a form of Caroli disease PSC- elongated IH dilatation, not saccular; onion-skin appearance around bile ducts

21 Caroli’s - US Ultrasonogram demonstrating the communicating nature of the disease, a key feature in the diagnosis. Lefere M et al. Eur J Gastro Hep 2011; 23: 578-585

22 “Central dot sign” Contrast-enhanced arterial phase and venous phase T1 MRI: central dot sign (arrow). Lefere M et al. Eur J Gastro Hep 2011; 23: 578-585

23 “Central dot sign” – High Res US Turkbey B et al. Pediatr Radiol 2009; 39: 100-111 Color Doppler US image shows the flow within the central dot representing portal venous flow (arrow).

24 IHBD Calculi Coronal heavy (a) and axial (b) T2-MRI showing saccular IHBD dilatations containing multiple calculi (arrows). Lefere M et al. Eur J Gastro Hep 2011; 23: 578-585

25 Percutaneous Transhepatic Cholangiography

26 ERCP ERCP shows saccular intrahepatic bile duct dilation and a debris- filled, dilated extrahepatic bile duct (arrow).

27 Caroli’s- Liver biopsy Dilated ducts lined by cuboidal or columnar epithelium with fibrotic duct wall.

28 PSC The elongated appearance of intrahepatic biliary dilatation in primary sclerosing cholangitis allows differentiation from the typical cystlike dilatation observed in Caroli disease.

29 PSC – Liver biopsy Bile duct with marked periductal sclerosis. “Onion skin appearance”

30 Treatment Cholangitis Prolonged treatment w/ appropriate antibiotics- drug resistant bacteria not uncommon with repeated episodes Chronic cholestasis Fat soluble vitamin supplementation (ie ADEK) Lithiasis Far more difficult to extract the EH stones Extracorporeal shock-wave lithotripsy Intraductal electrohydraulic lithotripsy Laser lithotripsy- limited role and not widely available Dissolution therapy- ursodeoxycholic acid 10 to 20mg/kg per day for 48 months Helps with bile flow Cirrhosis Liver transplantation- studies have shown excellent post-transplant survival

31 Prognosis Cholangiocarcinoma 2.5 to 15% risk- probably due to chronic cholestasis and unconjugated secondary bile salts Amyloidosis Probably due to chronic inflammation 2/2 chronic and recurrent cholangitis

32 References Caroli J et al. Semin Hop Paris 1958; 34: 128-135 Lefere M et al. Eur J Gastroenterol Hepatol 2011; 23: 578-585 Turkbey B et al. Pediatr Radiol 2009; 39: 100-111 Brancatelli G et al. Radio Graphics 2005; 25: 659-670 Levy AD et al. Curr Probl Diagn Radiol 2003; 32: 233-263 UTD

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