Dhanpat Jain Yale University School of Medicine, New Haven, CT
|
|
- Vivien Gray
- 6 years ago
- Views:
Transcription
1 Dhanpat Jain Yale University School of Medicine, New Haven, CT
2 Case history 15 years old female presented with fatigue. Found to have features suggestive of cirrhosis with esophageal varices, splenomegaly and mild thrombocytopenia Labs: Liver transaminases and alkaline phosphatase were mildly elevated AST 141 u/l, ALT 114 u/l, alkaline phosphatase 596 u/l, GGT 734 u/l, albumin 4.2 gm/dl and conjugated bilirubin 1.67 mg/dl Viral (Hepatitis A, B and C) were negative and autoantibody screen was also negative. Serum immunoglobulin levels were normal Increased 24h urine copper [> 100 mcg] Ceruloplasmin level was normal [38 mg/dl (ref 18 46)}, normal serum free copper [0.6 μg/dl (ref )] Liver biopsy
3
4
5
6
7
8
9 Case history Liver biopsy: Chronic hepatitis with moderate inflammatory activity, bridging fibrosis, moderate bile duct proliferation Rare glycogenated nuclei Rare Mallory Denk bodies Markedly elevated hepatic copper content (1471 μg/g).? Diagnosis
10 Wilson Disease (Leipzig criteria, Liv International 2003: ) Parameter Score Points K F rings Present Absent 2 0 Neurophychiatric symptoms (or typical MRI changes) Present Absent 2 0 Coombs + hemolytic anemia Present Absent 1 0 Urinary copper (in the absence of acute hepatitis Normal 1 2X ULN >2X ULN N, 5X ULN after challenge with 2X0.5 D penicillamine Liver copper quantitative Normal Up to 5X ULN >5X ULN Rhodanine + hepatocytes (if quantitative Cu not available Present Absent 1 0 Serum ceruloplasmin Mutation analysis Normal <10 Dis causing mutation on both chromosome Dis causing mutation on one chromosome No mutation detected Total > 4 = Wilson disease; 2-3 probable Wilson diseae; 0-1 Wilson disease unlikley
11 Case history Diagnosis: Wilson disease with cirrhosis Treatment : Started on zinc therapy, but was switched to Trientine due to GI side effects. After >12 months of treatment her transaminase levels did not improve and urine copper remained elevated. Mutations for Wilson disease (ATP7B)were negative Wilson disease unlikely Another liver biopsy was performed at this time, which is being presented
12
13
14
15
16 ? Diagnosis Cryptogenic cirrhosis
17 Cryptogenic cirrhosis Incidence varies between 5 30% Constitutes about 5 10% of liver transplants Etiology of cryptogenic cirrhosis: NASH Occult AIH Occult viral hepatitis: C, B, G and E, Hepatitis X Celiac disease Hepatic vascular disorders Occult biliary disorders Occult alcohol/tash
18
19
20 Cryptogenic cirrhosis Metabolic/ inherited disorders Bile salt transporter defects Bile salt synthetic defects Mitochondrial disorders Short telomere syndrome Keratin 8 and 18 mutations Glutathione S transferase mutations A1At disease Wilson disease Iron overload disorders (HFE or non HFE)
21 Cryptogenic cirrhosis Molecular diagnostics
22
23
24
25 ABCB4 mutations (MDR3) Nucleotide change Amino acid change Location Zygosity Reference/Co mments c984t>g py328 Exon 9 heterozygous Nonsense mutation c3218g>a pc1073y Exon 25 heterozygous Unclassified novel variant
26 Tranuner M, et at. Semin Liv Dis 2007:27:77-98
27 ?? Diagnosis Progressive familial intrahepatic cholestasis (PFIC 3)
28 PFIC3: MDR3 deficiency/defect Mutations in ABCB4 gene leading to MDR3 protein Highly variable disease presentation 1. Neonatal cholestasis (PFIC3) 2. Intra hepatic cholestasis of pregnancy 3. Drug induced liver disease 4. Low phospholipids associated cholelithiasis (LPAC) 5. Adult biliary cirrhosis 6. TPN associated cholestasis
29 MDR3 deficiency (PFIC3) Histology: (Highly variable depending on the phenotype) Preserved lobular architecture or minimal disarray Giant cell transformation and ballooning are absent or infrequent Diffuse hepatocellular and occasional canalicular cholestasis Ductular proliferation and portal fibrosis usually with progression of disease EM: Cholesterol crystal may be seen bile IHC: Usually absent or MDR3 staining
30 BSEP MDR3
31 PFIC3: MDR3 deficiency/defect Progression is variable some develop cirrhosis as early as 5 th month of life while some in adulthood Infants and young children: Hepatomegaly and acholic stools during 1 st month of life, or cholestasis or growth failure Older children and adults: Slower progression to cirrhosis without overt clinical cholestasis (cryptogenic cirrhosis)
32 Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations Wendum D, et al. Virchows Arch 2012: 460: Patient group Age range M/F Liv pathology Cirrhosis MDR3 IHC LPAC (n=4) /2 Mild ductular reaction, periductal edema, intraductal cholestrol crystals 0 N Recurrent cholangitis( n=4) Hepatolithi asis with cholangitis (n=2) /2 Mild ductular reaction,sclerosing cholangitis, intraductal cholestrol crystals 54, 63 0/2 Mild ductular reaction, intraductal cholesterol crystals, cirrhosis 0 1 weak staining 1 N Chronic cholestasis (n=3) /2 Mild ductular reaction, cirrhosis 1 N (All patients were heterozygous for MDR3 mutations)
33 Diagnosis of PFIC 3 High serum bile salts and high GGT Histology variable Chronic non specific cholestasis Biliary cirrhosis IHC for MDR 3 Useful screening tool Preserved staining doesn t exclude the diagnosis ABCB4 sequencing
34
35
36
37
38 Treatment and prognosis Ursodeoxycholic acid (URSO) Cirrhosis: Liver transplantation
39 Key points Need to carefully evaluate cases of Cryptogenic cirrhosis carefully for subtle histologic clues Correlation with other lab data Molecular diagnostics Second chance: Disease recurrence in the allograft
40 Thank You
41 Contribution of NGS to the genotyping of patients with hereditary cholestasis and cholelithiasis: Barbu VD, et al. Hepatology, Oct 2014: 289A. 57 Patients with suspected hereditary intrahepatic cholestasis or cholelithiasis M:F= 1:2 37 Patients had variants in ABCB4 (14) ABCB11 (9) ABCC2 (14) ATP8B1 (5)
42
43 Case history 15 years old female presented with fatigue Found to have features suggestive of cirrhosis with esophageal varices, splenomegaly and mild thrombocytopenia Labs: Liver transaminases and alkaline phosphatase were mildly elevated AST 141 u/l, ALT 114 u/l, alkaline phosphatase 596 u/l, GGT 734 u/l, albumin 4.2 gm/dl and conjugated bilirubin 1.67 mg/dl Viral (Hepatitis A, B and C) were negative and autoantibody screen was also negative. Serum immunoglobulin levels were normal Increased 24h urine copper [> 100 mcg] Ceruloplasmin level was normal [38 mg/dl (ref 18 46)}, normal serum free copper [0.6 μg/dl (ref )] Liver biopsy
Cryptogenic Cirrhosis: An Approach To The Diagnosis In The Era Of Molecular Medicine
Cryptogenic Cirrhosis: An Approach To The Diagnosis In The Era Of Molecular Medicine Disclosure of Relevant Financial Relationships USCAP requires that all faculty in a position to influence or control
More informationPresentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment
pissn: 2234-8646 eissn: 2234-8840 http://dx.doi.org/10.5223/pghn.2015.18.3.202 Pediatr Gastroenterol Hepatol Nutr 2015 September 18(3):202-208 Case Report PGHN Presentation of Progressive Familial Intrahepatic
More informationRole Of NGS And Molecular Pathology In The Diagnosis Of Liver Disorders Of Unknown Etiology
Role Of NGS And Molecular Pathology In The Diagnosis Of Liver Disorders Of Unknown Etiology Financial: Nothing to disclose Professional: I am not a molecular pathologist! Etiology remains unknown despite
More informationThe best D--- Teaching Case in my Specialty (Henry Appelman Theme) An Elderly Pathologist Tries to Assimilate Molecular Genetics into his Practice
The best D--- Teaching Case in my Specialty (Henry Appelman Theme) Or An Elderly Pathologist Tries to Assimilate Molecular Genetics into his Practice F.Q. 21 yo F (2011) 1998 Age 7 abnormal LFT, high cholesterol
More informationInterval history. It used to be easy (? Easier) 3/12/2012. The best D--- Teaching Case in my Specialty (Henry Appelman Theme) F.Q.
F.Q. 21 yo F (2011) The best D--- Teaching Case in my Specialty (Henry Appelman Theme) Or An Elderly Pathologist Tries to Assimilate Molecular Genetics into his Practice 1998 Age 7 abnormal LFT, high cholesterol
More informationDiseases of liver. Dr. Mohamed. A. Mahdi 4/2/2019. Mob:
Diseases of liver Dr. Mohamed. A. Mahdi Mob: 0123002800 4/2/2019 Cirrhosis Cirrhosis is a complication of many liver disease. Permanent scarring of the liver. A late-stage liver disease. The inflammation
More informationNatural history of α-1-atd in children
Natural history of α-1-atd in children Agnieszka Bakuła Dpt of Gastroenterology, Hepatology, Nutrition Disorders and Paediatrics The Children s Memorial Health Institute Warsaw, Poland Topics to be discussed
More informationMetabolic Liver Disease
Metabolic Liver Disease Peter Eichenseer, MD No relationships to disclose. Outline Overview Alpha-1 antitrypsin deficiency Wilson s disease Hereditary hemochromatosis Pathophysiology Clinical features
More informationPBC/AIH variant/ overlap syndrome vs PBC with hepatitic features?
22 November 2018 BD-IAP UK-LPG Liver Update PBC/AIH variant/ overlap syndrome vs PBC with hepatitic features? in a UDCA non-responder Dina G. Tiniakos Institute of Cellular Medicine, Faculty of Medical
More informationMetabolic Liver Disease: What s New in Diagnosis and Therapy?
Metabolic Liver Disease: What s New in Diagnosis and Therapy? Bruce R. Bacon, M.D. James F. King M.D. Endowed Chair in Gastroenterology Professor of Internal Medicine Division of Gastroenterology and Hepatology
More informationPatterns of abnormal LFTs and their differential diagnosis
Patterns of abnormal LFTs and their differential diagnosis Professor Matthew Cramp South West Liver Unit and Peninsula Schools of Medicine and Dentistry, Plymouth Outline liver function tests / tests of
More informationInterpreting Liver Function Tests
PSH Clinical Guidelines Statement 2017 Interpreting Liver Function Tests Dr. Asad A Chaudhry Consultant Hepatologist, Chaudhry Hospital, Gujranwala, Pakistan. Liver function tests (LFTs) generally refer
More informationFat, ballooning, plasma cells and a +ANA. Yikes! USCAP 2016 Evening Specialty Conference Cynthia Guy
Fat, ballooning, plasma cells and a +ANA. Yikes! USCAP 2016 Evening Specialty Conference Cynthia Guy Goals Share an interesting case Important because it highlights a common problem that we re likely to
More informationWilson Disease Patient Lab Tracker
Wilson Disease Patient Lab Tracker June, 2006 WDA Medical Advisory Committee Michael L. Schilsky M.D., Chair WILSON DISEASE PATIENT LAB TRACKER TREATMENT AND MONITORING OF WILSON DISEASE The following
More informationHepatocytes produce. Proteins Clotting factors Hormones. Bile Flow
R.J.Bailey MD Hepatocytes produce Proteins Clotting factors Hormones Bile Flow Trouble.. for the liver! Trouble for the Liver Liver Gall Bladder Common Alcohol Hep C Fatty Liver Cancer Drugs Viruses Uncommon
More informationPROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC)
The Childhood Liver Disease Research Network strives to provide information and support to individuals and families affected by liver disease through its many research programs. PROGRESSIVE FAMILIAL INTRAHEPATIC
More informationAdults with Inherited Liver Diseases
Kris V. Kowdley, MD, FAASLD Director, Liver Care Network and Organ Care Research Swedish Medical Center, Seattle, WA Postgraduate Course: Adults with Inherited Liver Diseases Challenges in Management of
More informationAutoimmune Hepatobiliary Diseases PROF. DR. SABEHA ALBAYATI CABM,FRCP
Autoimmune Hepatobiliary Diseases PROF. DR. SABEHA ALBAYATI CABM,FRCP Autoimmune hepatobiliary diseases The liver is an important target for immunemediated injury. Three disease phenotypes are recognized:
More informationA Review of Liver Function Tests. James Gray Gastroenterology Vancouver
A Review of Liver Function Tests James Gray Gastroenterology Vancouver Copyright 2017 by Sea Courses Inc. All rights reserved. No part of this document may be reproduced, copied, stored, or transmitted
More informationIdiopathic adulthood ductopenia manifesting as jaundice in a young male
Idiopathic adulthood ductopenia manifesting as jaundice in a young male Deepak Jain*,1, H. K. Aggarwal 1, Avinash Rao 1, Shaveta Dahiya 1, Promil Jain 2 1 Department of Medicine, Pt. B.D. Sharma University
More informationI have no disclosures relevant to this presentation LIVER TESTS: WHAT IS INCLUDED? LIVER TESTS: HOW TO UTILIZE THEM OBJECTIVES
LIVER TESTS: HOW TO UTILIZE THEM I have no disclosures relevant to this presentation José Franco, MD Professor of Medicine, Surgery and Pediatrics Medical College of Wisconsin OBJECTIVES Differentiate
More information-Liver function tests -
-Liver function tests - Biochimestry teamwork Osamah Al-Jarallah Abdulaziz Al-Shamlan Abdullah Al-Mazyad Turki Al-Otaibi Khalid Al-Khamis Saud Al-awad KhaledAlmohaimede Meshal Al-Otaibi Al-Anood Asiri
More informationBasic patterns of liver damage what information can a liver biopsy provide and what clinical information does the pathologist need?
Basic patterns of liver damage what information can a liver biopsy provide and what clinical information does the pathologist need? Rob Goldin r.goldin@imperial.ac.uk Fatty liver disease Is there fatty
More informationMetabolic Liver Diseases
Metabolic Liver Diseases Howard J. Worman, M. D. Department of Medicine Columbia University College of Physicians and Surgeons Three Classical Inherited Disorders of Metabolism Affecting the Liver Hereditary
More informationApproach to the Patient with Liver Disease
Approach to the Patient with Liver Disease Diagnosis of liver disease Careful history taking Physical examination Laboratory tests Radiologic examination and imaging studies Liver biopsy Liver diseases
More informationCryptogenic Cirrhosis: An Approach To The Diagnosis In The Era Of Molecular and Genomic Medicine
Cryptogenic Cirrhosis: An Approach To The Diagnosis In The Era Of Molecular and Genomic Medicine Introduction and historical perspective: Cryptogenic cirrhosis(cc) is defined as cases of cirrhosis where
More informationSpecial stains in liver pathology
Current Issues in Surgical Pathology 2014 Special stains in liver pathology Which, why, how Really? Sanjay Kakar, MD University of California, San Francisco Outline Which stains Why the stain is done How
More informationPatterns of abnormal LFTs and their differential diagnosis
Patterns of abnormal LFTs and their differential diagnosis Professor Matthew Cramp South West Liver Unit and Peninsula Schools of Medicine and Dentistry, Plymouth Outline liver function / liver function
More informationBasic patterns of liver damage what information can a liver biopsy provide and what clinical information does the pathologist need?
Basic patterns of liver damage what information can a liver biopsy provide and what clinical information does the pathologist need? Rob Goldin r.goldin@imperial.ac.uk @robdgol FATTY LIVER DISEASE Brunt
More informationMetabolic, Miscellaneous and Inflammatory Diseases of the Liver. 1. A 50 year old man is seen in the office for routine evaluation.
Metabolic, Miscellaneous and Inflammatory Diseases of the Liver Questions, Answers and Critiques 1. A 50 year old man is seen in the office for routine evaluation. He is asymptomatic. He acknowledges drinking
More informationPrimary Sclerosing Cholangitis and Cholestatic liver diseases. Ahsan M Bhatti MD, FACP Bhatti Gastroenterology Consultants
Primary Sclerosing Cholangitis and Cholestatic liver diseases Ahsan M Bhatti MD, FACP Bhatti Gastroenterology Consultants I have nothing to disclose Educational Objectives What is PSC? Understand the cholestatic
More informationSteatosis/Steatohepatitis
Prepared by Kurt Schaberg Introduction to Medical Liver Steatosis/Steatohepatitis Alcoholic Hepatitis Hepatocyte injury and inflammation resulting from chronic alcohol consumption AST/ALT ratio typically
More informationABNORMAL LIVER FUNCTION TESTS. Dr Uthayanan Chelvaratnam Hepatology Consultant North Bristol NHS Trust
ABNORMAL LIVER FUNCTION TESTS Dr Uthayanan Chelvaratnam Hepatology Consultant North Bristol NHS Trust INTRODUCTION Liver function tests Cases Non invasive fibrosis measurement Questions UK MORTALITY RATE
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name OMIM number for disease Disease alternative names please provide any alternative
More informationExtrahepatic Biliary Obstruction. Ductal Diseases: Stones Tumors. Acute Injury: Viral Hepatitis Toxin (APAP/Etoh) Reye s Shock.
Extrahepatic Biliary Obstruction Stones Tumors Ductal Diseases: Ductal Diseases: Primary Biliary Primary Biliary Cirrhosis Cirrhosis Sclerosing Cholangitis Sclerosing Cholangitis Acute Injury: Viral Hepatitis
More informationACCME/Disclosures. The Overlap Syndromes: Do They Exist? Key Points and Questions 4/6/2016. Hans Popper Hepatopathology Society
ACCME/Disclosures The USCAP requires that anyone in a position to influence or control the content of CME disclose any relevant financial relationship WITH COMMERCIAL INTERESTS which they or their spouse/partner
More informationPrognosis of untreated Primary Sclerosing Cholangitis (PSC) Erik Christensen Copenhagen, Denmark
Prognosis of untreated Primary Sclerosing Cholangitis (PSC) Erik Christensen Copenhagen, Denmark Study of Prognosis of PSC Difficulties: Disease is rare The duration of the course of disease may be very
More informationEVALUATION OF ABNORMAL LIVER TESTS
EVALUATION OF ABNORMAL LIVER TESTS MIA MANABAT DO PGY6 MOA 119 TH ANNUAL SPRING SCIENTIFIC CONVENTION MAY 19, 2018 EVALUATION OF ABNORMAL LIVER TESTS Review of liver enzymes vs liver function tests Clinical
More informationAMR in Liver Transplantation: Incidence
AMR in Liver Transplantation: Incidence Primary AMR 1/3 to 1/2 of ABO-incompatible transplants Uncommon with ABO-compatible transplant Secondary AMR Unknown incidence: rarely tested Why is AMR uncommon
More informationWilson Disease - Our Experience
Wilson Disease Our Experience Hussein Shamaly M.D.. Pediatric Gastroenterology Unit Pediatric Department Clalit Health Services French Hospital, Nazareth Key Concepts Wilson disease is more often considered
More informationAspartate aminotransferase-to-platelet ratio index in children with cholestatic liver diseases to assess liver fibrosis
The Turkish Journal of Pediatrics 2015; 57: 492-497 Original Aspartate aminotransferase-to-platelet ratio index in children with cholestatic liver diseases to assess liver fibrosis Aysel Ünlüsoy-Aksu 1,
More informationDiagnosis and Management of PBC
Diagnosis and Management of PBC Cynthia Levy, MD, FAASLD University of Miami Miller School of Medicine Miami, Florida 1 Primary Biliary Cholangitis (PBC) Chronic cholestatic liver disease Autoimmune in
More informationPatologia sistematica V Gastroenterologia Prof. Stefano Fiorucci Autoimmune liver diseases
Patologia sistematica V Gastroenterologia Prof. Stefano Fiorucci Autoimmune liver diseases Harrison s Principles of Internal Medicine 18-19 Ed. 2012 e seguenti Chronic hepatitis classification by cause
More information2. Liver blood tests and what they mean p2 Acute and chronic liver screen
Hepatology referral pathways for GP 1 Scope For use within hepatology Contents 2. Liver blood tests and what they mean p2 Acute and chronic liver screen p2 Common reasons for hepatology referral 3. Raised
More informationLaboratory Tests and Diagnostic Procedures in Liver Disease: Adventures in Liverland
Laboratory Tests and Diagnostic Procedures in Liver Disease: Adventures in Liverland Sanjiv Chopra, MD, MACP Professor of Medicine Harvard Medical School Editor In Chief Hepatology Section Up To Date Serum
More informationPrimary Biliary Cholangitis
Primary Biliary Cholangitis PBC Foundation (UK) Ltd 6 Hill Street Edinburgh EH2 3JZ Tel: +44 (0) 131 556 6811 info@pbcfoundation.org.uk www.pbcfoundation.org.uk PBC for Healthcare Practitioners Introduction
More information2. Liver blood tests and what they mean p2 Acute and chronic liver screen
1 Scope For use within hepatology Contents 2. Liver blood tests and what they mean p2 Acute and chronic liver screen p2 Common reasons for referral 3. Raised ALT +/- GGT p3 4. Non alcoholic fatty liver
More informationAAIM: GI Workshop Follow Up to Case Studies. Non-alcoholic Fatty Liver Disease Ulcerative Colitis Crohn s Disease
AAIM: GI Workshop Follow Up to Case Studies Non-alcoholic Fatty Liver Disease Ulcerative Colitis Crohn s Disease Daniel Zimmerman, MD VP and Medical Director, RGA Global October 2015 Non-alcoholic Fatty
More informationLiver Disease in Cystic Fibrosis
Liver Disease in Cystic Fibrosis Basic Overview Clinical Aspects Management What Is Cystic Fibrosis? Autosomal recessive disease W-1:3000, H-1:10,000, AA-1:15,000 Mutations of CFTR defective Cl - transport
More informationGI DISEASE WORKSHOP CASE STUDIES
GI DISEASE WORKSHOP CASE STUDIES American Academy of Insurance Medicine Triennial Course in Insurance Medicine 2012 Clifton Titcomb Jr., MD (Hannover Re) James Topic, MD (Protective Life) 1 CASE #1 Application
More informationWEEK. MPharm Programme. Liver Biochemistry. Slide 1 of 49 MPHM14 Liver Biochemistry
MPharm Programme Liver Biochemistry Slide 1 of 49 MPHM Liver Biochemistry Learning Outcomes Assess and evaluate the signs and symptoms of illness Assess and critically appraise a patients medication regimen,
More informationGenetic cholestasis. Peter Jansen Liver Center Academic Medical Center Amsterdam
Genetic cholestasis Peter Jansen Liver Center Academic Medical Center Amsterdam Genetic cholestasis Proteins and genes Genetic cholestatic diseases Lessons from ko/mutant models A new MDR3 phenotype A
More informationNoncalculous Biliary Disease Dean Abramson, M.D. Gastroenterologists, P.C. Cedar Rapids. Cholestasis
Noncalculous Biliary Disease Dean Abramson, M.D. Gastroenterologists, P.C. Cedar Rapids Cholestasis Biochemical hallmark Impaired bile flow from liver to small intestine Alkaline phosphatase is primary
More informationAutoimmune Liver Diseases
2nd Pannonia Congress of pathology Hepato-biliary pathology Autoimmune Liver Diseases Vera Ferlan Marolt Institute of pathology, Medical faculty, University of Ljubljana Slovenia Siofok, Hungary, May 2012
More informationWhat to do with abnormal LFTs? Andrew M Smith Hepatobiliary Surgeon
What to do with abnormal LFTs? Andrew M Smith Hepatobiliary Surgeon "it looks like there's something wrong.with your television set. Matt Groenig, creator of The Simpsons Probability of an abnormal screening
More informationPancreatic exocrine insufficiency: a rare cause of nonalcoholic steatohepatitis
Pancreatic exocrine insufficiency: a rare cause of nonalcoholic steatohepatitis Naoki Tanaka 1, Akira Horiuchi 2, Takahide Yokoyama 3, Shigeyuki Kawa 1, and Kendo Kiyosawa 1 1 Department of Gastroenterology,
More informationMrs Janet Catt. Pre-Conference Nurse s Course. Royal Free London NHS Foundation Trust. Janet Catt MSc RN Lead Nurse Specialist Practic 12/12/2014
Pre-Conference Nurse s Course in partnership with Mrs Janet Catt Royal Free London NHS Foundation Trust Janet Catt MSc RN Lead Nurse Specialist Practic 1 Liver blood tests monitoring cirrhosis HIV/HCV
More informationOverview of PSC Jayant A. Talwalkar, MD, MPH Associate Professor of Medicine Mayo Clinic Rochester, MN
Overview of PSC Jayant A. Talwalkar, MD, MPH Associate Professor of Medicine Mayo Clinic Rochester, MN 2012 Annual Conference PSC Partners Seeking a Cure May 5, 2012 Primary Sclerosing Cholangitis Multifocal
More informationNeonatal Cholestasis. What is Cholestasis? Congenital and Pediatric liver diseases 4/26/18
Congenital and Pediatric liver diseases Nitika Gupta, M.D. Personal/Professional Financial Relationships with Industry in the past year External Industry Relationships * Equity, stock, or options in biomedical
More informationBiochemistry Liver Function Tests (LFTs)
HbA NH 2 H 2 O 2 KClO3 Cl 2 O 7 PO 4 CH2O NAOH KMnO 4 M E D I C I N E KING SAUD UNIVERSITY Co 2 COOH MgCl 2 H 2 O Important Extra Information Doctors slides Doctors notes SO 2 HCN CCl 4 CuCl 2 SiCl 4 Biochemistry
More informationAbnormal Liver Chemistries. Lauren Myers, MMsc. PA-C Oregon Health and Science University
Abnormal Liver Chemistries Lauren Myers, MMsc. PA-C Oregon Health and Science University Disclosure 1. The speaker/planner Lauren Myers, MMSc, PA-C have no relevant financial relationships to disclose
More informationGastrointes*nal and Liver Pathology. Kris*ne Kra5s, M.D.
Gastrointes*nal and Liver Pathology Kris*ne Kra5s, M.D. GI Pathology Outline Esophagus Stomach Intes*ne Liver Gallbladder Pancreas GI Pathology Outline Esophagus Stomach Intes*ne Liver Hepa**s Alcoholic
More informationJaundice. Agnieszka Dobrowolska- Zachwieja, MD, PhD
Jaundice Agnieszka Dobrowolska- Zachwieja, MD, PhD Jaundice definition Jaundice, as in the French jaune, refers to the yellow discoloration of the skin. It arises from the abnormal accumulation of bilirubin
More informationA Review Of Experience And Update On The Pathology Of Wilson's Disease: Correlations Between Histopathological And Clinico- Pathological Features
Yale University EliScholar A Digital Platform for Scholarly Publishing at Yale Yale Medicine Thesis Digital Library School of Medicine January 2011 A Review Of Experience And Update On The Pathology Of
More informationNational Liver EQA Scheme. Open meeting, Glasgow March 24th 2004
National Liver EQA Scheme Open meeting, Glasgow March 24th 2004 Participants meeting SOP8 Case discussion Are we quorate All please sign attendance sheet There were 20 EQA participants and 7 non-members
More informationSuspected Isoflurane Induced Hepatitis from Cross Sensitivity in a Post Transplant for Fulminant Hepatitis from Halothane.
ISPUB.COM The Internet Journal of Anesthesiology Volume 25 Number 1 Suspected Isoflurane Induced Hepatitis from Cross Sensitivity in a Post Transplant for Fulminant Hepatitis from Halothane. V Sampathi,
More informationHangzhou, 15 March Ulrich Beuers Department of Gastroenterology and Hepatology Academic Medical Center University of Amsterdam
Clinical Aspects of Primary Biliary Cirrhosis Hangzhou, 15 March 2008 Ulrich Beuers Department of Gastroenterology and Hepatology Academic Medical Center University of Amsterdam Epidemiology of Primary
More informationWilson disease an update for 2014 Enfermedad de Wilson. Actualización
5 Congreso Argentino de Gastroenterología, Hepatología y Nutrición Pediátricas Wilson disease an update for 2014 Enfermedad de Wilson. Actualización Eve A. Roberts, M.D., M.A., FRCPC Division of Gastroenterology,
More informationLinda Ferrell, MD Distinguished Professor Vice Chair Director of Surgical Pathology Dept of Pathology
Linda Ferrell, MD Distinguished Professor Vice Chair Director of Surgical Pathology Dept of Pathology Nonalcoholic steatohepatitis and Fatty Liver Disease Liver manifestations of the obesity epidemic Changes
More informationImproving the Lives of Patients with Liver Diseases
Improving the Lives of Patients with Liver Diseases Corporate Presentation March 2019 Safe Harbor Statement This presentation contains "forward-looking" statements that involve risks, uncertainties and
More informationThe many faces of MDR 3 deficiency
The many faces of MDR 3 deficiency Relevance of canalicular membrane transporting proteins for human liver disease Peter LM Jansen and Marleen de Vree Academic Medical Center Amsterdam, The Netherlands
More informationBritish Liver Transplant Group Pathology meeting September Leeds cases
British Liver Transplant Group Pathology meeting September 2014 Leeds cases Leeds Case 1 Male 61 years Liver transplant for HCV cirrhosis with HCC in January 2014. Now raised ALT and bilirubin,? acute
More informationLiver disease in children
Liver disease in children Dr. Ahmed Al-Sarkhy MD, MHSc, FAAP, FRCPC Pediatric gastroenterology & hepatology consultant College of medicine & KKUH King Saud university Objectives To understand the anatomy
More informationHEPETIC SYSTEMS BIOCHEMICAL HEPATOCYTIC SYSTEM HEPATOBILIARY SYSTEM RETICULOENDOTHELIAL SYSTEM
EVALUATION OF LIVER FUNCTION R. Mohammadi Biochemist (Ph.D.) Faculty member of Medical Faculty HEPETIC SYSTEMS BIOCHEMICAL HEPATOCYTIC SYSTEM HEPATOBILIARY SYSTEM RETICULOENDOTHELIAL SYSTEM METABOLIC FUNCTION
More informationDrug-induced liver injury
Drug-induced liver injury Vincent Wong MBChB(Hons), MD, FRCP, FHKCP, FHKAM Professor, Department of Medicine and Therapeutics Director, Cheng Suen Man Shook Foundation Centre for Hepatitis Studies Deputy
More informationACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries
ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries Paul Y. Kwo, MD, FACG, FAASLD 1, Stanley M. Cohen, MD, FACG, FAASLD 2, and Joseph K. Lim, MD, FACG, FAASLD 3 1 Division of Gastroenterology/Hepatology,
More informationBiochemical Investigations in Liver Disease. Dr Roshitha de Silva Department of Pathology Faculty of Medicine University of Kelaniya
Biochemical Investigations in Liver Disease Dr Roshitha de Silva Department of Pathology Faculty of Medicine University of Kelaniya Biochemical markers Albumin ALP ALT, AST Gamma-glutamyl transpeptidase
More informationCHAPTER 1. Alcoholic Liver Disease
CHAPTER 1 Alcoholic Liver Disease Major Lesions of Alcoholic Liver Disease Alcoholic fatty liver - >90% of binge and chronic drinkers Alcoholic hepatitis precursor of cirrhosis Alcoholic cirrhosis end
More informationHOW TO DEAL WITH THOSE ABNORMAL LIVER ENZYMES David C. Twedt DVM, DACVIM Colorado State University Fort Collins, CO
HOW TO DEAL WITH THOSE ABNORMAL LIVER ENZYMES David C. Twedt DVM, DACVIM Colorado State University Fort Collins, CO The identification of abnormal liver enzymes usually indicates liver damage but rarely
More informationSarah Landes October 23, 2014
Sarah Landes October 23, 2014 A T-cell mediated inflammatory destruction of intralobular bile ducts progressively leading to cholestasis and cirrhosis 9:1 F to M ratio Mostly diagnosed between 30-60 years
More informationCrackCast Episode 28 Jaundice
CrackCast Episode 28 Jaundice Episode overview: 1) Describe heme metabolism 2) List common pre-hepatic/hepatic/post-hepatic causes of jaundice Wisecracks: 1) What are clinical signs of liver disease? 2)
More informationApproach to a case of Neonatal Cholestasis
Approach to a case of Neonatal Cholestasis Ira Shah (Co-Incharge, Consultant Pediatrician, Pediatric Liver Clinic) Gunjan Narkhede (Resident in Pediatric Liver Clinic) Pediatric Hepatobiliary Clinic, B.J.Wadia
More informationOverview of PSC Making the Diagnosis
Overview of PSC Making the Diagnosis Tamar Taddei, MD Assistant Professor of Medicine Yale University School of Medicine Overview Definition Epidemiology Diagnosis Modes of presentation Associated diseases
More informationTHBA Platform - Bile acid imbalance
- Bile acid imbalance Bile acids play an important role in maintaining human health by means of signaling molecules in the regulation of bile formation, liver function and metabolism. The detergent effect
More informationJorge A. Bezerra, M.D.
Improving clinical practice through research: Where are we going? Jorge A. Bezerra, M.D. Conflict of interests Molecular Genetics Laboratory, CCHMC Research funding Gilead Principal Investigator: Anti-HBV
More informationIN THE NAME OF GOD. D r. MANIJE DEZFULI AZAD UNIVERCITY OF TEHRAN BOOALI HOSPITAL INFECTIOUS DISEASES SPECIALIST
IN THE NAME OF GOD AZAD UNIVERCITY OF TEHRAN BOOALI HOSPITAL D r. MANIJE DEZFULI INFECTIOUS DISEASES SPECIALIST Acute Viral Hepatitis The Anatomy of the Liver Hepatic Physiology Liver: Largest solid organ
More informationPediatric PSC A children s tale
Pediatric PSC A children s tale September 8 th PSC Partners seeking a cure Tamir Miloh Assistant Professor Pediatric Hepatology Mount Sinai Hospital, NY Incidence Primary Sclerosing Cholangitis (PSC) ;
More informationPathophysiology I Liver and Biliary Disease
Pathophysiology I Liver and Biliary Disease The Liver The liver is located in the right upper portion of the abdominal cavity just beneath the right side of the rib cage. The liver has many functions that
More informationChapter 18 LIVER BILIARY TRACT
Chapter 18 LIVER & BILIARY TRACT DUCT SYSTEM N O FIBROUS TISSUE PORTAL TRIAD CENTRAL VEIN PATTERNS OF HEPATIC INJURY Degeneration: Balooning, feathery degeneration, fat, pigment Inflammation:
More informationChronic Biliary Disease. Dr Susan Davies & Dr Bill Griffiths
Chronic Biliary Disease Dr Susan Davies & Dr Bill Griffiths Chronic Biliary Disease Terminology is confusing with pathologists and hepatologists using the same language BUT with different meanings. Chronic
More informationPathophysiology of Bile Secretion
Pathophysiology of Bile Secretion Martin C. Carey, D.Sc., M.D. Division of Gastroenterology, Brigham and Women s Hospital and Department of Medicine, Harvard Medical School Boston, MA, U.S.A. Functions
More informationYES NO UNKNOWN PENETRANCE ACTIONABILITY SIGNIFICANCE/BURDEN OF DISEASE NEXT STEPS. YES (Proceed to Stage II) YES ( 1 of above)
Stage I: Rule-Out Dashboard GENE/GENE PANEL: ATP7B DISORDER: Wilson Disease HGNC ID: 870 OMIM ID: 277900 ACTIONABILITY 1. Is there a qualifying resource, such as a practice guideline or systematic review,
More informationA Rational Evidence-based Approach to Abnormal Liver Tests
A Rational Evidence-based Approach to Abnormal Liver Tests Jane D. Ricaforte-Campos, MD FPCP, FPSG, FPSDE 2013 HSP Post-graduate Course Radisson Blu Hotel, Cebu City misnomer Liver Function Tests Does
More informationHIV/AIDS and the Liver : interlinking challenges
HIV/AIDS and the Liver : interlinking challenges Mark W. Sonderup Division of Hepatology Department of Medicine University of Cape Town & Groote Schuur Hospital Global HIV/AIDS prevalence 37 million people
More informationDisclosure. Evaluation of Abnormal Hepatic Enzymes
Evaluation of Abnormal Hepatic Enzymes Bruce D. Askey, MS, ANP-BC Associate Lecturer North Andover, MA Adult Nurse Practitioner Dept. of Hepatology/Gastroenterology Guthrie Clinic Sayre, Pa Disclosure
More informationACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries
18 PRACTICE GUIDELINES CME ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries Paul Y. Kwo, MD, FACG, FAASLD 1, Stanley M. Cohen, MD, FACG, FAASLD 2 and Joseph K. Lim, MD, FACG, FAASLD 3 Clinicians
More informationPostoperative jaundice
Postoperative jaundice Principles of Surgery Ehren Eksteen 17/3/2010 Abri Bezuidenhout 28/3/2012 Intro Jaundice is defined as yellow discolouration of the skin,sclera and heavily perfused areas in a patient
More informationCase report Idiopathic neonatal hepatitis or extrahepatic biliary atresia? The role of liver biopsy
Case report Idiopathic neonatal hepatitis or extrahepatic biliary atresia? The role of liver biopsy Abdelmoneim EM Kheir (1), Wisal MA Ahmed (2), Israa Gaber (2), Sara MA Gafer (2), Badreldin M Yousif
More informationUSCAP PEDIATRIC PATHOLOGY Slide Session
USCAP PEDIATRIC PATHOLOGY Slide Session CASE 4 Milton J. Finegold Patient 1 Slide B Twin A: 27 4/7 wk gestation; 1090 gm Maternal gestational DM, ITP - Rx IVIG Ventilatory support for 3 months Multiple
More informationWhat are LFTs? What are LFTs? 3/20/2017. Evaluation of Abnormal Liver Chemistry Tests. Transaminases. Alkaline phosphatase.
Evaluation of Abnormal Liver Chemistry Tests James Panetta, DO What are LFTs? Transaminases Alkaline phosphatase Bilirubin Gamma-glutamyl transpeptidase What are LFTs? 5 nucleosidase Lactate Dehydrogenase
More information