Autoimmune and metabolic liver disorders Flashcards
Name three autoimmune liver disorders
- Primary biliary cirrhosis
- Primary sclerosing cholangitis
- Autoimmune hepatitis
Define primary biliary cirrhosis
Autoimmune progressive destruction of small bile ducts ➔ cirrhosis
Which population group is most commonly affected by primary biliary cirrhosis
90% are women aged 40-50
How does primary biliary cirrhosis present?
25% are asymptomatic and diagnosed by incidental blood tests
- Fatigue
- Pruritus
- RUQ pain/discomfort
- Later: jaundice, dark urine, pale stools
- Sjogren’s syndrome: Dry eyes and mouth
What may be seen on examination of primary biliary cirrhosis?
- Hepatomegaly
- Hyperpigmentation
- Splenomegaly
- Jaundice
- Xanthelasma (late)
- Cirrhosis (advanced disease)
Name two risk factors for primary biliary cirrhosis
- FHx
- Multiple UTIs
- Smoking
- Past pregnancy
- Other autoimmune diseases
How is primary biliary cirrhosis investigated?
- Anti-mitochondrial antibodies +ve (98%)
- Increased ALP, GGT and mild AST/ALT
- Late: increased bilirubin and PTT, decreased albumin
- Raised IgM
- Liver biopsy to stage disease
Outline the management of primary biliary cirrhosis
- Ursodeoxycholic acid
- Colestyramine, rifampicin, naloxone for pruritus
- Fat-soluble vitamin (ADK) supplements
- Bisphosphonates for osteoporosis
- Liver transplantation
Define primary sclerosing cholangitis
Progressive cholestasis with fibrosing inflammatory destruction of bile ducts ➔ strictures
Which groups are most often affected by primary sclerosing cholangitis
- 60% of cases occur in men aged 35-40
- 70% of patients with PSC also have IBD
- Secondary PSC seen with HIV and cryptosporidium
What conditions are heavily associated with primary sclerosing cholangitis?
- Inflammatory bowel disease (70%)
- Hepatobiliary malignancies
- Colorectal cancer
Describe the clinical features of primary sclerosing cholangitis
Asymptomatic with abnormal LFTs or hepatomegaly
- Jaundice
- Fluctuating pruritus
- RUQ pain
- Cholangitis
- Cirrhosis (late)
What investigations are used for primary sclerosing cholangitis?
- ERCP
- Abnormal LFTs: elevated ALP or GGT typically
- Raised bilirubin (late)
- IgG/IgM raised AMA -ve
Outline the management of primary sclerosing cholangitis
- Colestyramine, rifampicin, naloxone for pruritus
- Fat-soluble (ADK) vitamin supplements
- Balloon dilatation/stent for strictures
- Liver transplant
Describe autoimmune hepatitis
Progressive inflammatory liver condition of unknown aetiology
25% asymptomatic at diagnosis
May present as an ‘acute hepatitis’:
- Initial:
- Anorexia; nausea; flu-like symptoms
- May have fatigue and weight loss
- Jaundice
What investigations are useful in autoimmune hepatitis?
- LFTs: Very high aminotranferases (AST; ALT)
- FBC:
- Mild normocytic anaemia
- Thrombocytopenia; leucopenia
- Anti smooth muscle antibodies
- Liver biopsy: mandatory to confirm diagnosis
How is autoimmune hepatitis managed?
- Prednisolone
- Azathioprine
Name two metabolic liver disorders
- Hereditary haemochromatosis
- Wilson’s disease
What is hereditary haemochromatosis?
- Inherited disorder characterised by excess iron deposition
- Casuses fibrosis and functional organ failure
- Associated with HFE gene on chromosome 6
What organs may be affected by hereditary haemochromatosis?
- Liver
- Pancreas
- Joints: Osteoarthritis
- Heart
- Skin
- Gonads
- Pituitary
- Adrenals: Addison’s disease
Give three presenting features of hereditary haemochromatosis
Often asymptomatic until late stages
- Initially nonspecific:
- Fatigue, weakness
- Arthropathy
- Abdominal problems
- Erectile dysfunction, heart problems
- Diabetes; bronzing of skin; hepatomegaly
- Arthropathy (2nd or 3rd MCPJ)
- Impotence; amenorrhoea; hypogonadism
- Heart failure, arrhythmias
- Cirrhosis
Request three investigation for hereditary haemochromatosis
- Serum iron
- Serum ferritin; transferrin saturation
- LFTs - often normal
- Genetic testing
- Liver biopsy - assess extent of tissue damage
Outline the management of haemochromatosis
- Avoid iron-containing vitamin preparations and foods
- Alcohol cessation
- Venesection (therapeutic or maintenance)
- Liver transplant
- Monitor serum ferritin - may indicate biopsy
What is Wilson’s disease?
Disorder of excessive copper disposition
In the liver, basal ganglia, and cornea
How does Wilson’s disease differ in children and adults?
Typically:
- Liver disease in children and adolescents
- Neuropsychiatric disease in young adults
When should Wilson’s disease be suspected?
- Any child or young adult with unexplained liver abnormalities
- Patients with movement disorders
Give four presenting features of Wilson’s disease
Copper deposits in the liver, basal ganglia, and cornea:
- Acute liver failure, chronic hepatitis, cirrhosis
- Severe depression, neuroses
- Asymmetrical tremor, dysarthria, ataxia, excess salivation
- Kayser-Fleischer ring (95%)
How is Wilson’s disease investigated?
- Low serum copper and caeruloplasmin
- Copper binds to caeruloplasmin
- Increased urinary copper
- Liver biopsy
KF rings + low serum caeruloplasmin are sufficient to diagnose
Outline the management of Wilson’s disease
- Lifelong penicillamine
- Trientine and/or Zinc for maintenance/asymptomatic
