Cholestasis Flashcards by Zahra Kalifa

What is cholestasis

Reduced bile formation\flow = retention of biliary substance in liver

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Cholestasis can be classified as

1- billary: affecting the ducts (most common)

2- hepatocellular: affecting the parenchyma

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How does patient with biliary atresia present to the hospital

Thriving and normal patient

Only the pale stool and jaundice

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Pale stool is always associated with

Blockage

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What are the lab findings in biliary atresia?

Conjugated hyper-billirubinemia
(>20%) of totaly.
high AST\ALP, GGT, alkaline phosphatase
normal albumin\PT

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What is the US finding in biliary atresia?

Triangular cord sign

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how to preform HIDA scan

Phenobarb 5 days before it

- showing discontinuation at the CBD

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What is the role of HIDA in biliary atresia

Not specific

It can rule out biliary atresia

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What is the gold standard for biliary atresia

Intraoperative cholangiogram

Diagnostic and theraputic

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What is the golden period for biliary atresia

Within 60 days

After 90 days > high risk for hepatitis and transplant.

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What is the first treatment for biliary atresia?

Kasai hepatopotrostomy.

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When does jaundice resolve after kasai?

By 3 months

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What is the post-operative care after kasai

UDCA “Ursodeoxycholic acid”
Antibiotic (to avoid ascending cholangitis)
supplements of (ADEK)
increase calories

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What are the prophylaxis for ascending cholangitis post kasai?

Bacterim + neomycin

“More intensive if the patient develops cholangitis (4-6wks)

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What are the indications of liver transplant?

failure of Kasai
persistent cholestasis after 6em
growth failure
liver disease (cirrhosis, varicceal, hepatopulmonary, ascitis, Portal HTN)

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What is the alagille syndrome?

Autosomal dominant characterised by paucity of intralobular ducts

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What is the most common form of familal intrahepatic cholestasis

Alagille syndrome

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What is the genetic mutation in ALGS

JAG1 (95%)

NOTCH (2%)

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What are the clinical features of ALGS?

broad forehead
deep seated eye
small pointy skin
hypertolersim
straigh nose w\bulbous tip

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What is the most common developmental cardiac defect in allagile syndrome

Peripheral Pulmonary stenosis

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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