Gastrointestinal Disorders I

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Gastrointestinal Disorders I

• Parvathi Mohan, M.D.
• Associate Professor of Pediatrics
• Gastroenterology and Nutrition Services

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The good.
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The Badand
The Ugly...
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DEFINITIONCHOLESTASIS

• Reduction of canalicular bile flow
• Hepatic and systemic retention of bile
• components
• Presentation as direct hyperbilirubinemia
• Elevation in serum levels of Alkaline
  phosphatase Bile salts, GGT

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Remember..

• Definition Direct bilirubin gt 1mg/dL
• or gt15 of total bilirubin if total bilirubin is
  gt5mg/dL
• Jaundice after 2 weeks of birth needs
  investigation
• Direct hyperbilirubinemia always pathological

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INDIRECT HYPERBILIRUBINEMIA

• Breast milk jaundice
• Gilberts syndrome
• Hemolysis

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Breast Milk Jaundice

• Different from breast feeding jaundice
• May last for 10 weeks
• ? ß-glucuronidase in breast milk
• No lab test so exclude other
  conditions,e.g.,hemolysis, drugs, hypothyroidism
• Do not stop breast feeding except briefly

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Gilberts Syndrome

• Hereditary, chronic, recurrent
• Mild, vague symptoms/ none
• Incidence- 3
• Rule out hemolysis
• No treatment

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QUESTION 1

• Pale stools and jaundice are noted in an other-
• wise healthy 4 week old breast fed infant
• On examination, the liver edge is palpable 3 cm.
• below the right costal border, firm. What is NOT
• a likely diagnosis ?
• Biliary Atresia
• Arteriohepatic dysplasia (Alagille syndrome)
• Choledochal cyst
• Breast milk jaundice
• Progressive familial intrahepatic cholestasis
• (Byler disease)

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BROAD CLASSIFICATIONCHOLESTASIS

• Extrahepatic Biliary atresia
  Choledochal cyst
• Intra Hepatic Arterio hepatic dysplasia
  (Alagilles)
• Sclerosing cholangitis
• Familial Cholestasis -PFIC (Bylers)

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CLASSIFICATION INTRA-HEPATICCHOLESTASIS

• Infections TORCH Syphilis E. Coli
  UTI
• Toxic
• Hyperalimentation
• Sepsis
• Drugs

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CLASSIFICATION - continuedCHOLESTASIS

• Metabolic Galactosemia Cystic Fibrosis
  
• alpha-1 -antitrypsin deficiency
• Tyrosinemia
• Miscellaneous Neonatal Hepatitis (Giant
  cell)
• Shock/Sepsis

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Summary of causes of direct hyperbilirubinemia
Hepatitis Elevated transaminases Cholestatic Elevated A Phos, GGT Synthetic Elevated INR, low Albumin
Infections UTI TORCH Anatomic BA Alagilles Metabolic Tyrosinemia Iron storage
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Biliary atresia

• Healthy, jaundiced
• Pale stools- check yourself
• Perinatal or Fetal Type
• Presents at 3 weeks of life
• Leads to fat malabsorption, malnutrition and
  portal hypertension

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Clay stools
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There you go..!!
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Biliary Atresia

• Fetal/ embryonic
• About 10-20
• Other malformations e.g. malrotation, cardiac
• Classic/ perinatal
• Develops at 3 weeks
• 1/10,000 live births
• Unclear etiology

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Biliary Atresia - etiology
Genetic susceptibility
Environmental
Immune
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Neonatal hepatitis

• No etiology found
• SGA or preterm infant
• Familial occurrence
• Presentation mimics BA
• Giant cells on biopsy non specific
• Favorable outcome

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TPN liver disease

• Cholestasis
• Cholelithiasis
• Fibrosis/cirrhosis
• Steatosis in adults
• May last for months
• May lead to liver transplantation

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QUESTION 1

• Pale stools and jaundice are noted in an other-
• wise healthy 4 week old breast fed infant
• On examination, the liver edge is palpable 3 cm.
• below the right costal border, firm. What is NOT
• a likely diagnosis ?
• Biliary Atresia
• Arteriohepatic dysplasia (Alagille syndrome)
• Choledochal cyst
• Breast milk jaundice
• Progressive familial intrahepatic cholestasis
• (Byler disease)

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EVALUATION - ICHOLESTASIS

• Detailed history
• Physical examination
• Fractionation of bilirubin
• Examination of stool for bile
• pigment

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QUESTION 2

• A healthy 8 month old is seen for a routine
  visit.
• On examination, the liver edge is palpable 2 cm.
• below the right costal border, span 5 cm. Which
• of the following is the most appropriate next
  step?
• Consult a gastroenterologist
• Liver sonogram
• Liver function tests
• Repeat examination weekly to assess size
• No need to work up, routine F/U

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Physical examination-Hepatomegaly

• Liver edge gt 3.5 cm below right costal
  margin newborn
• Liver edge gt 1 cm. children
• Span in newborn- gt 5 cm.
• Span at 12 years- gt 6-8 cm.
• Can be displaced by lung/chest anomaly

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Hepatomegaly and texture

• Inflammation Acute hepatitis
• Storage Glycogen, Fat ( TPN)
• Infiltration Neoplasm, cysts
• Congestion Cardiac disease, VOD
• Obstruction Biliary atresia
• Texture soft/firm/hard

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EVALUATION - IICHOLESTASIS

• Liver functions Transaminases -
  hepatocellular
• GGT, Bilirubin - obstructive
• Albumin, PT/PTT - synthetic
• Infection TORCH, RPR, HIV Urine culture
• Metabolic alpha-1-AT, sweat test Amino
  acid profile

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EVALUATION - IIICHOLESTASIS

• Sonography - Choledochal Cyst
• Scintigraphy - Biliary Atresia
• Liver biopsy - Biliary Atresia
• ERCP- Sclerosing cholangitis
• Operative cholangiogram - Biliary Atresia

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QUESTION 2

• A healthy 8 month old is seen for a routine
  visit.
• On examination, the liver edge is palpable 2 cm.
• below the right costal border, span 5 cm.
• Consult a gastroenterologist
• Liver sonogram
• Liver function tests
• Repeat examination weekly to assess size
• No need to work up, routine F/U

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TREATMENTCHOLESTASIS

• Definitive Specific diets - e.g..
  galactosemia Surgery - Kasai
  portoenterostomy Liver
  transplantation
• Supportive MCT containing formula Fat
  soluble vitamins-ADEK
• Bile flow promoters- Ursodeoxycholic acid

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DEFINITIONS GASTROINTESTINAL BLEEDING

• Hematemesis
• Melena
• Hematochezia
• Occult blood loss

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Upper GI bleeding
Neonates Children Adolescents
Swallowed maternal blood Stress gastritis Ulcer Milk allergy- rare AV malformations- very rare Esophagitis- reflux,caustic Gastritis- peptic, H Pylori Mallory Weiss tear Varices GVHD Esophagitis Gastritis/ulcer- H pylori, IBD Malignancy- rare Immune- HIV, BMT
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QUESTION 3

• A 2 week old breast fed healthy infant
• presents with mild fussiness, mucoid
• stools mixed with blood. What is the
• most likely diagnosis ?
• A. Arteriovenous malformation
• B. Polyps
• C. Milk protein allergy
• D. Duodenal ulcer

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Lower GI Bleeding
Neonates Children Adolescents
Infections Milk allergy Fissures NEC Hirschprungs Infections Polyps Meckels Intussusception H-S purpura Infections STD Inflammatory bowel disease Rare AVM, Meckels
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Allergic Colitis
Eosinophils
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Hirschprungs Disease and colitis
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MECKELS DIVERTICULUM

• Painless, episodic, significant bleeding
• Rule of 2- 2 cm long, 2 yrs of age,
• 2 feet from ileocecal valve, 2 of
• population
• Meckels scan for diagnosis

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POLYPS

• Juvenile, hamartoma
• Single, multiple
• Painless rectal bleed
• Not pre-cancerous except.
• Familial/ syndromic

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DIAGNOSTIC EVALUATION - IGASTROINTESTINAL
BLEEDING

• Swallowed maternal blood - Apts test
• Gastric bleeding - gastroccult
• Rectal bleeding - hemoccult

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DIAGNOSTIC EVALUATION - IIGASTROINTESTINAL
BLEEDING

• Nasogastric tube
• Endoscopy
• Meckel's scan
• Bleeding scan
• Contrast studies
• Angiography
• Laparotomy

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MANAGEMENT - GENERALGASTROINTESTINAL BLEEDING

• Airway
• Intravenous Access
• Blood Transfusion
• Nasogastric Aspiration

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MANAGEMENT - SPECIFICGASTROINTESTINAL BLEEDING

• Medical H2 Blockers Proton pump
  inhibitors Somatostatin
• Invasive Polypectomy Sclerotherapy/bandi
  ng Electrocoagulation Surgery

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QUESTION 3

• A 2 week old breast fed healthy infant
• presents with mild fussiness, mucoid
• stools mixed with blood. What is the
• most likely diagnosis ?
• A. A-V malformation
• B. Polyps
• C. Milk protein allergy
• D. Duodenal ulcer

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Chronic Hepatitis Definition

• Chronic inflammatory hepatopathy
• Elevated transaminases
• Clinical or laboratory evidence of liver disease
  for 10 or more weeks
• May progress into liver failure, cirrhosis or
  early death

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Chronic Hepatitis (CH)

• Infectious- bacterial, viral etc.
• Drug induced
• Steatohepatitis
• Auto-immune
• Metabolic
  
  
  

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CH- presentation

• Jaundice
• Hepatosplenomegaly
• Constitutional symptoms - fever,
  lethargy, pruritis, edema

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Drugs and Hepatitis

• Acute hepatitis INH, Halothane
• Hepatitis/Cholestasis Erythromycin
• Zonal necrosis Acetaminophen
• Steatosis Valproate
• Adenoma Estrogens
• Allergic Phenytoin
• Malignancy Anabolic steroids

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The most common hepatitis in the US is.?
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Fat but cute.
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Steatohepatitis (NAFLD)

• Prevalence of obesity 22 gt20 years
• Steatosis- 60 , steatohepatitis -20
• Association with Type 2 diabetes,
  hyperlipidemia, insulin resistance - metabolic
  syndrome
• Oxidative stress and inflammatory mediators-
  pathogenesis

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N- AFLD
NON- alcoholic Fatty Liver Disease
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Autoimmune hepatitis Overview

• Acute or insidious
• Autoantibodies
• High total IgG
• Propensity for cirrhosis
• 5.9 of Liver Tx
• Female preponderance

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Autoimmune Hepatitis

• Type I ( ANA, Anti smooth muscle ab.)
• Predominantly in women
• Acne, amenorrhea
• Nephritis, thyroiditis
• Type II ( Anti liver kidney antibody)
• Mainly in children
• More aggressive course

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Wilsons Disease

• Genetic disorder- systemic copper accumulation
• Chromosome 13
• Mutation of ATP7B gene
• Hepatitis, liver failure, cirrhosis
• Extra-pyramidal lesions
• Psychiatric disorders
• Hemolysis, renal disease

K-F Ring
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Wilsons Disease- Diagnosis

• Ceruloplasmin deficiency
• serum level lt 20 mg/dl
• 24 hour urine copper gt 100 mcg
• Liver copper gt 250 mcg/gm dry wt.
• Mitochrondrial changes on EM
• Genetic studies

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Alpha-1-antitrypsin deficiency

• Autosomal recessive
• Presentation
• Asymptomatic elevated AST, ALT
• Liver disease, portal hypertension
• Emphysema
• Diagnosis
• Low serum levels of A1AT
• Pi (Protease Inhibitor) phenotyping PiZZ
• Histology PAS positive material in liver

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Sclerosing Cholangitis

• Chronic cholestatic liver disease
• Often associated with IBD - UC
• Inflammation, dilation, narrowing of bile ducts
  (beading)
• Propensity for cholangiocarcinoma
• Diagnosis by liver biopsy, ERCP

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Complications of Chronic Hepatitis

• Cirrhosis and portal hypertension- GI bleed,
  ascites, malnutrition
• Hepatic encephalopathy
• Hepato-renal, hepato-pulmonary syndromes
• Fulminant hepatic failure

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Fulminant hepatic failure

• Deepening jaundice, decreasing ALT
• Coagulopathy
• Encephalopathy
• Hypoglycemia, ascites
• Recovery or death

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Portal hypertension

• Elevation of portal pressure above 5-10 mm Hg.
• Presents as varices, splenomegaly
• Extrahepatic
• Venous obstruction portal, IVC
• Cardiac CCF, cardiomyopathy
• Intrahepatic
• Chronic liver diseases
• Liver fibrosis/ cirrhosis

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Liver Transplantation

• Orthotopic whole liver
• Reduced size
• Split liver
• Living donor

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Question 4

• An asymptomatic 14 year old girl was found to
  have ALT 95 U/dL. Her BMI is 29, liver span 15
  cm INR and total serum protein is normal. Which
  of the following is the most likely diagnosis?
• Autoimmune hepatitis
• Hepatitis A
• Steatohepatitis
• Chronic hepatitis B