GIT Clinical Exam Flashcards

1
Q

Causes of hepatosplenomegaly

A
  1. Structural: Extahepatic biliary atresia, choledochal cyst, intrahepatic biliary hypoplasia, congenital hepatic fibrosis, polycystic disease

2 . Storage/ metabolic:
– Carbohydrate- glycogen storage disease (Type 1,3,4,6), hereditary fructose intolerance, galactosaemia,, mucopolysaccaridoses-
– Mineral: Wilson’s disease, juvenile haemachromatoses
-Nutrition: Protein calorie malnutrition, TPN-Bile flow: progressive familial intrahepatic cholestaisis syndrome
-Protease: Alpha-1-antitripsin
-Electrolyte: CF
– Amino acid: Tyrosinaemia type 1, urea cycle disorder
-Lipid – Gaucher, Nieman-Pick diease, cholesteryl ester storage disease

  1. Haematological: Thalassaemia, sickle cell disease, ALL, AML CML
  2. Heart/ Vascular: Conestive heart failure, constrictive pericarditis, obstructive IVC, Budd-Chiari syndrome
  3. Infection: Viral – rubella, CMV, coxsackie virus, echovirus, hepatitis ABCDE, EBV ; Bacteria – E.coli TI, TB, syphilis ; Parasite – Malaria, toxoplasmosis, Schistosomiasis

S-Structural
-> Biliary atresia, choledocal cyst, Alagille, polycystic disease, congenital hepatic fibrosis
S- storage/metablic
–> Gaucher, Niemann-Pick disease, mucopolsaccharidoses, alpha1-antitripsin, tyrosinaemia, cystic fibrosis, Wilsons disease, glycogen storage disease, hereditory fructose intolorence, galactosemia
H- haematological
–> thalassaemia, hereditary spherocytosis, sickle cell anaemia, leukemia/lymphoma
H- heart
–> congestive cardiac failure, contractive pericarditits, obstructed IVC
I- infection
–> EBV, TORCH, CMV, viral hepatitis, neoantal sepsis, e coli UTI, TB, [arasitic infections (malaria, schistosomiasis, toxo)
I- infiltrative/inflammatory
–> CAH, IBD associated liver disease, sarcoidosis
R- rheumatological
–> sJIA, SLE
T- tumor/hamartoma
–> hepatoblastoma, HCC, Wilms, tumor/neuroblastoma etc with liver infiltration
T-truama
–> hepatic haematoma

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2
Q

Infantile hepatic hemangioma

A

Infantile hepatic haemangiomas have substantial arteriovenous shunting which may lead to fatal cardiovascular compromise and hydrops fetalis. It may present as hepatomegaly since the entire liver is involved in most cases.

In addition, fetuses may also develop haemolytic anaemia, thrombocytopenia, and consumptive coagulopathy (Kasabach-Merritt sequence).

If these tumours are not detected prenatally, neonates may present with unexplained congestive heart failure.

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3
Q

Causes of sole splenomegaly- CHIMPS

A

C- cardiac
–> subacute bacterial endocarditis
C-connective tissue disease
–> sJIA, SLE (or HSM)
H-haematological
–> hereditory spherocytosis, G6PD (both of these ONLY splenomegaly), b thal major (or HSM)
I- infection
–> EBV, CMV, SBE, toxoplasma, malaria
I-injury
–> haematoma
M- malignancy
–> leukemia, lymphoma
P- portal HTN
–> extrahepatic: post umbi cord catheter, sepsis
–> intrahepatic: cirrhosis, conjenital hepatic fibrosis
–> suprahepatic: Budd Chiari syndrome
S- storage diseases
–> Gaucher disease, Niemann-Pick (both also cause HSM)
S- splenic cyst or hamartoma

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4
Q

Causes of sole hepatomegaly

A

Primary hepatic neoplasms (eg hepatoblastoma, HCC), or secondary mets (eg Wilms)
Vascular malformations (eg haemangioma)
Viral hepatitis A-E
E.coli UTI, sepsis, TB
Hydatid cysts
Glycogen storage disease
Hereditory fructose intolorence
Galactosemia
Cushings syndrome
Tyrosinemia type 1
Urea cycle enzyme disorders
IBD associated liver disease
Alpha 1 antitripsin deficiency
Extrahepatic biliary atresia
Choledochal cyst
Alagile
Congestive cardiac failure
Constrictive pericarditis

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5
Q

Causes hepatomegaly - jaundiced vs not jaundiced

A

INFANTS

Jaundiced:
Biliary atresia
A1AT deficiency
Alagille syndrome
Metabolic: hereditory fructose intolorence, galactosemia, tyrosinemia, mucopolusaccharidoses
Cystic fibrosis
Choledochal cyst (can be both jaundiced and not jaundiced)
Infection: echovirus, TORCH, e coli UTI
Hypopituitarism

Not jaundiced:
Tumors
Hemangioma
Choledochal cyst
Glycogen storage disease (GSD), HFI
Congenital hepatic fibrosis
Congestive cardiac failure

CHILDREN < 5 years
Jaundiced:
A1AT deficiency
Metabolic- hereditory fructose intolorence (HFI)
Cystic fibrosis
Choledochal cyst

Not jaundiced:
Infection: Hep A/B/C/E, EBV, CMV, toxoplasmsis
HFI, GSD
Choledochal cyst
Tumrors
Congenitcal hepatic fibrosis

CHILDREN >5 years
As above (not jaundiced) + Wilsons disease (can be jaundiced or not jaundiced) + CAH + sJIA, SLE

Children with HS, thalassemia and sickle cell anemia may also be jaundiced

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6
Q

Jaundice after Kasai due to

A

1) Cholestasis (incomplete drainage)/cirrhosis very common, leads to chronic liver diease (often with portal HTN/splenomegaly), often need a liver transplant
2)Cholangitis (fever, RUQ pain, jaundice)
3)Hepatocellular carcinoma

Only 60% of Kasais are successful initially but even successful Kasai may still require transplantation due to portal hypertension, recurrent cholangitis and complications of cirrhosis. (only 20% make it to adulthood with native liver)

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7
Q

Nutrition in liver disease

A

FAT SOLUABLE VITAMINS
CLD affects absorption, metabolism and storage of fat soluable vitamins

also protein

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8
Q

Natural history after Kasai (bliary atresia)

A

1) Complete drainage (postoperative total bilirubin <2 mg/dL): long‐term palliation may result in development of biliary cirrhosis over 10 to 20 years.

2) Incomplete drainage (postoperative total bilirubin 2 to 5 mg/dL): short‐term palliation may result in development of biliary cirrhosis in 2 to 10 years.

3) Failed procedure (postoperative bilirubin >8 mg/dL): liver failure in 6 to 18 months necessitates immediate liver transplant evaluation.

Potential postoperative complications include:
1) Cholangitis
2) Cholestasis
▪Malabsorption
▪Bone disease/osteopenia
▪Pruritus
▪Xanthoma/xanthelasma
3) Failure to thrive
4) Portal hypertension
▪Ascites
▪Gastrointestinal/variceal hemorrhage
▪Hepatopulmonary syndrome
5) Synthetic liver failure

Indications for liver transplant post Kasai:
- cirrhosis with portal HTN and complications (eg GI bleeding)
- recurrent or intractable cholangitis

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9
Q

What to look for on examination in child with biliary atresia (post Kasai)

A
  • Poor growth (look at growth charts, comment on muscle bulk and fat stores)
  • Jaundice
  • Palmar erythema
  • Hepatomegaly, splenomegaly
  • Ascites
  • Portal hypertension and its peripheral stigmata (caput medusae, spider nevi)
  • Cholangitis (fever, RUQ pain)
  • Evidence fat soluable vitamin deficiency (wrist splaying, mallelous sign, ricketsial rosary, bruising, ataxia/weakness/reduced proprioception/reduced vibration sense)

Ix:
Liver enzymes
Synthetic liver tests (coags, albumin, glucose)

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10
Q

Cholestatic jaundice (conjugated hyperbilirubinemia) caused by

A

Biliary atresia
Alagille syndrome
A1AT deficiency (remember check genotype and phenotype, not levels as its an acute phase reactant)
Autoimmune hepatitis
Primary sclerosing cholangitis
Wilsons disease
CF
Choledochal cyst
Viral hepitis (hep a/b/c)
….and many others

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11
Q

LFTs in cholestasis

A

ALP is much more elevated compared to ALT/AST

Usually GGT is also elevated but not always (eg PFIC 1+2)

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12
Q

Examinations in Wilsons disease

A

Hepatospenomegaly
Isolated splenomegaly
Peripheral stigmata of chonic liver disease
Eyes: KF rings (would need slit lamp to perform)
Jaundice
Tremor, dysarthria, ataxia and other neuro manifestations

Low ceruloplasmin, high urinary copper excretion
May have haemoytic anemia
Elevated ALT/AST, ALP usually normal

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13
Q

Portal hyptertension clinical findings

A

Splenomegaly
Ascites
Caput medusae
Spider Nevi
Petechiae

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14
Q
A
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14
Q

what to do if cant feel spleen

A

ask to bend knees

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15
Q

Causes of chronic liver disease/liver failure in kids

A

Biliary atresia
Familial intrahepatic cholestasis
Autoimmune hepatitis
Viral hepatis
Wilsons disease
Glycogen storage disorders
Alagille syndrome
Cystic fibrosis
A1AT deficiency

16
Q

Common causes of liver transplant in kids

A

EHBA
Alagille
Crigler Najjar syndrome
Metabolic - tyrosinemia, A1AT def, glycogen storage diseae, Wilsons , urea cycle disorder ,MPS
CF liver disease
Hep B/C
Liver tumor (hepatoblastma, HCC)
Acute hepatic necrosis - eg paracetamol overdose

17
Q

Complications post liver transplant

A

A/E of immunosuppressants
HTN
Poor growth
Anaemia of chronic disease
Skin cancer
Gingival hyperplasia
Insulin resistance
Hirsutism

18
Q

CLD investigations

A

Liver: LFTs, albumin, coags
Nutrition: ADEK
Portal HTN: abdo uss with dopplers, endoscopy for varices

Investigations
Cause:
<5 years
- Infectious: TORCH, urine mcs
- EHBA- liver USS, HIDA, operative cholangiogram
- Alagille: echo for PS, spine XR for butterfly vertebrae, opthal for posterior embryotoxin
- Metabolic: A1ATD (phenotype and genotype), CF (sweat test), HFI (assay on liver biospy), Zellweger ( urine metabolic screen + organic acids), tyrosinemia ( urine metabolic screen + amino acids), galactosemia (urine for reducing substances, GALT assay)
>5 years:
- Infectious (hep B, C, CMV, EBV)
- Choledocal cyst- liver USS
- Autoimmune hepatitis - anti SM, anti LKM antibodies
- Wilson: urinary copper (high), serum ceruloplasmin (low), liver biopsy
- PCS- endoscopic retrograde cholangiography