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Medicine > Jaundice (AI and genetic causes) > Flashcards

Jaundice (AI and genetic causes) Flashcards

1
Q

Hx: 42 year old male patient presents with RUQ pain, itch, jaundice, fatigue, weight loss, fevers, dark wee and pale poo, with a history of IBD (mostly UC)?

Ex: hepato +/- splenomegaly?

A

PSC

“S” stoma

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2
Q

complications of PSC?

A
  • cholangiocarcinoma (chronic UC and PSC)
  • bacterial cholangitis
  • colorectal CA (UC)
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3
Q

pathophysiology of PSC?

A

inflammation and fibrosis of the intrahepatic +/- extrahepatic bile ducts = diffuse, multifocal stricture formation

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4
Q

Hx: 17 year old presents with jaundice (50 percent do)? or 27 year old with neuropsychiatric illness (dysarthria, dysdiadochokinesis, but normal sensation, muscular strength, and reflexes)?

Ex: Keiser-Fleischer rings on slit-lamp, tremor

Ix: low serum ceruloplasmin, high urinary copper excretion

A

Wilson’s disease

autosomal recessive, copper in the liver, brain, and other tissues

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5
Q

Hx: 25 year old female patient presents with itch, lethargy, +/- jaundice, +/- RUQ pain, malaise, fever, polyarthritis, urticaria, amenorrhoea, with one previous episode 1 year earlier?

FHx: thyroid disease

(25 percent present this way)

A

AI hepatitis

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6
Q

Ix AI hepatitis?

A 
BLOODS:
• ↑ ANA  (anti-nuclear Ab)
• ↑ ASMA (anti-smooth muscle Ab)
• ↑ IgG (also indicates disease activity)
• LFTs, bili, g-GT
  • MRCP
  • ***biopsy always needed
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7
Q

blood markers for AI hepatitis?

A

ANA
ASMA
IgG

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8
Q

Tx AI hepatitis?

A

prednisolone

+/- azathioprine

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9
Q

which AI disease causes SMALL intra-hepatic bile duct destruction resulting in cholestasis, liver damage, fibrosis and cirrhosis?

A

PBC (primary biliary cholangitis)

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10
Q

commonest AI liver disease?

A

PBC

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11
Q

risk factors for PBC?

A
  • women
  • > age 50
  • FHx AI disease
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12
Q

Sx/Ex of PBC?

“BILE EXCESS”

A
  • B - bone disease (30 percent): OP due to malabsorption of fat soluble ADEK due to cholestasis
  • I - itch (50 percent)
  • L - lethargy (80 percent)
  • E - eyes yellow (jaundice; late sign)
  • E - eyes dry (sicca)
  • X - xanthelasma (due to…
  • …C - cholesterol ↑ (↓ biliary clearance)
  • E - enlarged liver (25 percent hepatomegaly) +/- spleno, +/- RUQ pain
  • S - skin pigmentation (↑melanin deposition)
  • S - steatorrhoea (fat malabsorption)
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13
Q

Ix PBC?

A

BEDSIDE:

BLOODS
• ↑AMA (highly sensitive)
• ↑IgM
• ↑total cholesterol (incl HDL)
• cholestatic LFTs (esp. ALP) (bili rises later)
• PT

IMAGING
• abdo US (ΔΔ focal lesion obstructing duct)

SPECIAL
• biopsy (not usually needed, AMA is good enough)
• DEXA (screen OP)

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14
Q

blood markers for PBC?

A

AMA

IgM

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15
Q

Tx PBC?

A 
conservative
• less alcohol
• vit ADEK if def
• monitoring liver function (PT, A-, LFTs)
• DEXA scans to screen for OP
medical
• bisphosphonates, Ca++, vit D (OP)
• ***ursodeoxycholic acid (UCDA, for bile acids)
• cholestyramine for itch
• +/- steroid

surgical
• transplant (end stage cirrhosis)

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16
Q

what causes inflammation of intra and extra-hepatic MEDIUM and large bile ducts leading to STRICTURES, blockage, fibrosis = hepatocyte damage and fibrosis?

A

PSC (primary sclerosing cholangitis)

pSc = Strictures

17
Q

Hx: 54 year old female smoker pt presents with itch, sleepiness, lethargy, dry eyes, +/- RUQ pain?

Ex: jaundice; late sign, xanthelasma (↑cholesterol), hepatomegaly +/- spleno, +/- skin pigmentation (↑melanin deposition)?

A

PBC (primary biliary cholangitis)

18
Q

Ix PSC?

A

BLOODS:
• ↑p-ANCA (not specific)
• cholestatic LFTs (ALP, bili rises later)

IMAGING:
• abdo US
• ***MRCP/ERCP diagnostic

SPECIAL
• ERCP + biopsy (check for cholangioCA)
• (liver biopsy rarely needed)

19
Q

which primary cholangitis ↑ risk of cholangioCA?

A

PSC

20
Q

blood markers for PSC?

A

↑ p-ANCA

↑ LFTS (ALP)

21
Q

Tx PSC?

A 
conservative
• less alcohol
• vit ADEK if def
• monitoring bloods
• monitoring cholangioCA
• DEXA (OP screen)

medical
• bisphosp, Ca++, vit D
• cholestyramine for itch

surgical/interventional
• balloon dilation of biliary stricture with ERCP
• transplant

22
Q

how to screen for cholangioCA in PSC?

A

annual CA19-9

abdo US

23
Q

commonest inherited metabolic disease in UK? (autosomal recessive, mutation in HFE on chromosone 6p)

A

hereditary haemochromatosis (HH)
• Fe absorption
• Fe 10x normal

24
Q

what bits of the body does HH damage?

A
  • liver (cirrhosis, HCC)
  • joints (arthropathy)
  • anterior pituitary (hypogonadism)
  • pancreas (DM)
  • heart (heart disease)
  • thyroid
25
Q

Hx: 45 year old man presents with fatigue, grey (initially bronze) skin on neck, face, hands, lower legs, etc, joint pain, erectile dysfunction and decreased libido (hypogonadism), feeling cold (hypothyroid)?

Ex: hepatomegaly, loss of body hair (hypogonadism), joint pain in 2nd/3rd MCP, and PIP?

A

HH “A-J”

  • A - anterior pituitary change (hypogonadism)
  • B - bone disease (OP)
  • C - chronic liver disease (hepatomegaly, cirrhosis)
  • D - dilated cardiomyopathy
  • E - excess Fe
  • F - fatigue
  • G - grey/initially bronze skin
  • H - hypothyroidism
  • I - ↓ insulin (bronze DM)
  • J - joint pain (chondrocalcinosis)
26
Q

Ix HH?

A

BEDSIDE:
• BP, BMI (ΔΔ metabolic syndrome)
• ECG

BLOODS:
• **fasting high transferrin saturation
• **↑ferritin, ↑Fe, ↓TIBC (most already bound)

  • CRP (ΔΔ inflammation as cause of ↑ferritin)
  • lipids, glucose (ΔΔ metabolic syndrome)
  • FBC (ΔΔ anaemia as cause of ↑ferritin)
  • LFTs, glucose, TFT, LH/FSH/T (to look for effects of HH)
IMAGING:
• US
• joint x-ray (chondrocalcinosis)
• liver MRI
• DEXA (OP)
• ECHO (cardiomyopathy)

SPECIAL
• *****genetic testing confirms (HFE genotyping diagnostic)
• if -ve, liver MRI +/- biopsy

27
Q

Tx HH?

A

conservative
• avoid Fe, vit C, less alcohol
• annual monitoring
• hep A/B vaccine

1st line
• remove 1 unit Fe per week until ferritin mildly low
• then 1 unit every 3-6 months

2nd line
• Fe chelation with desferrioxamine

surgical
• transplant

28
Q

Ix Wilson’s?

Tx?

A

BEDSIDE
• 24hr urine copper

BLOODS
• ceruloplasmin low
• low serum copper
• low Hb (haemolysis)

SPECIAL
• slit lamp screening (Kayser-Fleischer (KF) rings
• biopsy

Tx
• penicillamine
• trientine + zinc
• transplantation

29
Q

hallmark Ix for PBC?

A

AMA

antimitochondrial Ab

Medicine (28 decks)

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