GIT Clinical Exam Flashcards
Causes of hepatosplenomegaly
- 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
- Haematological: Thalassaemia, sickle cell disease, ALL, AML CML
- Heart/ Vascular: Conestive heart failure, constrictive pericarditis, obstructive IVC, Budd-Chiari syndrome
- 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
Infantile hepatic hemangioma
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.
Causes of sole splenomegaly- CHIMPS
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
Causes of sole hepatomegaly
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
Causes hepatomegaly - jaundiced vs not jaundiced
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
Jaundice after Kasai due to
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)
Nutrition in liver disease
FAT SOLUABLE VITAMINS
CLD affects absorption, metabolism and storage of fat soluable vitamins
also protein
Natural history after Kasai (bliary atresia)
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
What to look for on examination in child with biliary atresia (post Kasai)
- 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)
Cholestatic jaundice (conjugated hyperbilirubinemia) caused by
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
LFTs in cholestasis
ALP is much more elevated compared to ALT/AST
Usually GGT is also elevated but not always (eg PFIC 1+2)
Examinations in Wilsons disease
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
Portal hyptertension clinical findings
Splenomegaly
Ascites
Caput medusae
Spider Nevi
Petechiae
what to do if cant feel spleen
ask to bend knees
