Cholestasis Flashcards
What is cholestasis
Reduced bile formation\flow = retention of biliary substance in liver
Cholestasis can be classified as
1- billary: affecting the ducts (most common)
2- hepatocellular: affecting the parenchyma
How does patient with biliary atresia present to the hospital
Thriving and normal patient
Only the pale stool and jaundice
Pale stool is always associated with
Blockage
What are the lab findings in biliary atresia?
- Conjugated hyper-billirubinemia
(>20%) of totaly. - high AST\ALP, GGT, alkaline phosphatase
- normal albumin\PT
What is the US finding in biliary atresia?
Triangular cord sign
how to preform HIDA scan
- Phenobarb 5 days before it
- showing discontinuation at the CBD
What is the role of HIDA in biliary atresia
Not specific
It can rule out biliary atresia
What is the gold standard for biliary atresia
Intraoperative cholangiogram
Diagnostic and theraputic
What is the golden period for biliary atresia
Within 60 days
After 90 days > high risk for hepatitis and transplant.
What is the first treatment for biliary atresia?
Kasai hepatopotrostomy.
When does jaundice resolve after kasai?
By 3 months
What is the post-operative care after kasai
- UDCA “Ursodeoxycholic acid”
- Antibiotic (to avoid ascending cholangitis)
- supplements of (ADEK)
- increase calories
What are the prophylaxis for ascending cholangitis post kasai?
Bacterim + neomycin
“More intensive if the patient develops cholangitis (4-6wks)
What are the indications of liver transplant?
- failure of Kasai
- persistent cholestasis after 6em
- growth failure
- liver disease (cirrhosis, varicceal, hepatopulmonary, ascitis, Portal HTN)
What is the alagille syndrome?
Autosomal dominant characterised by paucity of intralobular ducts
What is the most common form of familal intrahepatic cholestasis
Alagille syndrome
What is the genetic mutation in ALGS
JAG1 (95%)
NOTCH (2%)
What are the clinical features of ALGS?
- broad forehead
- deep seated eye
- small pointy skin
- hypertolersim
- straigh nose w\bulbous tip
What is the most common developmental cardiac defect in allagile syndrome
Peripheral Pulmonary stenosis
What are the associated conditions with ALGS?
- eye: posterior emberyotoxin
- X-ray: butterfly vertebra
- kidney: renal tubular acidosis\ tubulointerstital disease
- cardiac: Pulmonary stenosis\ TOF
How does infant with CF + jaundice usually present
- failure to thrive
- meconium ileus
- obstructive cholangiophathy (cholestasis)
How to diagnose baby with CF?
screening: immunoreactive trypsonogin
Gold standard: CFTR - positive sweat chloride
What is the most common cause of inhereted neonatal cholestasis
Alpha-1-antitrypsin
What is the gene involved in alpha antitrypsin deficency?
SIRPINA 1
What is the picture seen in alpha-1antitrypsin def?
Mixed picture
Hepatitis\hepatocellular + billary
Differentiate between using alpha-1-antitrypsin serum concentration and using phenotype to diagnose
- serum: insufficient as it’s an acute phase reactant
- phenotype: more accurate (ZZ, SZ) - heterozygos (MZ, MS)
What is the type of progressive familial intrahepatic cholestasis that has high GGT?
Type 3
What is the abnormality in PFIC 1?
P-type ATPase
What is the presentation of PFIC1?
infnancy
Short strature - deafness - pancreatitis - diarrhea
What is the abnormality in PFIC 2?
Bile salt export pump
What is the presentation of PFIC1?
Infnacy
Aggressive and
- hepatic failure in the first few years of life
- risk of hepatocellular carcinoma
What is the presentation of PFIC3?
Multidrug resistance protein 3
ABCB4
Alongside with high GGT, what else is is special about PFIC 3
- Only 1\3rd of patients are infnant
- concorrent gallstones
What is PFIC treatment
1- nutritional: vitamins + calories
2- Pruritus treatment
3- refractory: surgical\ if failed liver transplantation
What is the clinical presentation in bile acid biosynthesis disorders
- neonatal jaundice
- Failure thrive
- Hepatosplenomegaly
- Rickets
- bleeding
What in these disorders has low or normal GGT
PFIC 1-2-4-5 And BASD
What are the finding in BASD?
- low bile acid
- normal\low GGT
- fast atom bombardment mass spectrometry urine
- molecular screening
What is the treamtent BASD?
Cholic acid and chenodeoxycholic acid
What is the diagnostic gold standard in choledochal cyst
Abdominal US
What is the definitive treatment of choledochal cyst
Surgical resection
What happens if there’s a residual cyst from the choledochal cyst that the surgical left behind
Risk of cholangiocarcinoma or squamous cell carcinoma
How does infant have hemolytic disease?
- congenital biliary abnormalities
- hemolysis
- Sepsis
- TPN prolong
- prematurity
When does patient getting TPN requires surgery if he has gallstoneS?
If the stone is getting larger
What is the risk of TPN?
If taken over 7 days might cause liver disease PNALD “parentral nutrition associated”
(>2 weeks for sure)
How to avoid PNALD due to TPN
- early initiation of feeding
- reduce intralipid dose
- replace the lipid (avoid polysaturated & give omega3)
- ursodiol to clear the bile Flow
What is the enzyme abnormality cause of galactosemia?
GAL-1-PUT
What are the symptoms of galactosemia
Failure to thrive - jaundive - vomitting - diarrhea - gram negative sepsis
Gram negative sepsis differentia should be
Galactosemia due to breast feeding or milk based formula
How to diagnose galactosemia
1- urine reducing substance before starting the soy-based formula
2- RBC assay: complete absense of Gal-1-put
What is the definitive diagnosis for galactosemia?
RBC assay showing Gal-1-Put deficiency
