Primary sclerosing cholangitis, Primary biliary cholangitis, Wilson's disease Flashcards
Define primary sclerosing cholangitis (PSC)?
Refers to a chronic cholestatic disorder characterised by inflammation and fibrosis of intrahepatic and extrahepatic bile ducts.
Leads to multifocal biliary strictures.
Causes/RFs of primary sclerosing cholangitis (PSC)?
Unknown cause
RFs:
- Male
- Aged 30-40
- Ulcerative colitis
- FHx
Associated with:
- POSITIVE anti-smooth muscle and antinuclear antibodies.
- myeloperoxidase antineutrophil cytoplasmic antibody (p-ANCA)
Presentation of primary sclerosing cholangitis (PSC)?
Hepatomegaly
Jaundice
Pruritus
Right upper quadrant pain
Fatigue, weight loss, fevers, and sweats
Associated with ulcerative collitis.
Diagnosis/IVx of primary sclerosing cholangitis (PSC)?
LFTs (raised ALP; other liver enzymes and bilirubin are raised later)
No antibodies are sensitive or specific to PSC.
- Perinuclear antineutrophil cytoplasmic antibody (p-ANCA)
- Antinuclear antibodies (ANA)
- Anti-smooth muscle antibodies (anti-SMA)
Imaging:
- MRCP (magnetic resonance cholangiopancreatography)
- ERCP (endoscopic retrograde cholangiopancreatography)
Invasive:
- liver biopsy (shows fibrous, obliterative cholangitis ‘onion skin’ appearance)
Management of primary sclerosing cholangitis (PSC)?
Lifestyle
- avoid alcohol
Cholestyramine -for pruritus
Supplementation of fat soluble vitamins (A,D,E,K)
Strictures may be dilated via ERCP
Liver transplantation
(in cases complicated by chronic liver disease or hepatobillary malignancies)
Complications of primary sclerosing cholangitis (PSC)?
Increases risk of:
- cholangiocarcinoma
- colorectal cancer
Define Primary biliary cholangitis (PBC)? Who does it affect more?
Also known as primary biliary cirrhosis.
An autoimmune disease that results in scarring and granulomatous inflammation of the intrahepatic bile ducts.
Leads to liver cirrhosis.
Affects women under 40years of age.
Cause of Primary biliary cholangitis (PBC)?
Unknown cause
Disease results from an autoimmune response that targets the small bile ducts within the liver.
RFs:
- FHx
- female
- smoking
- other autoimmune conditions (e.g. Sjogren’s)
Presentation of Primary biliary cholangitis (PBC)?
Right upper quadrant pain
Xanthelasma
Fatigue
Xerosis (dry skin)
Pruritis
Exocoriations (scratches on skin due to itching)
Sicca syndrome (dry eyes)
Clubbing
Jaundice
Hepatomegaly
Diagnosis/IVx of Primary biliary cholangitis (PBC)?
LFTs
POSITIVE AMA (Anti-mitochondrial antibodies)
Raised serum IgM
Imaging:
- Abdominal US (1st LINE; rule out extrahepatic biliary obstruction)
- MRCP (GOLD STANDARD to visualise liver and bile ducts)
Invasive:
- liver biopsy (GOLD STANDARD; shows inflammation, scarring, granulomas around bile duct)
Management of Primary biliary cholangitis (PBC)?
Supportive
Ursodeoxycholic acid - SLOW DISEASE PROGRESSION, promotes bile flow.
Cholestyramine -pruritus relief
Vitamin supplements to manage deficiencies.
Liver transplantation (bilirubin >100)
Complications of Primary biliary cholangitis (PBC)?
chronic liver disease
→cirrhosis
→portal hypertension
→deranged clotting
Osteomalacia
Define Wilson’s disease?
An autosomal recessive hereditary disorder characterised by impaired copper metabolism.
Causes abnormal accumulation of copper in various body tissues, especially the liver and brain.
Cause of Wilson’s disease?
Mutations in the ATP7B gene (codes for copper transportation and elimination in the body)
Diagnosis/IVx of Wilson’s disease?
1st line: SERUM CAERULOPLASMIN
24-hour urine collection (urinary copper excretion)
Genetic analysis of the ATP7B gene to confirm the diagnosis.
MRI brain
Liver biopsy
