Diseases

Question 1

What is the Clinical presentation of Haemochromatosis?

Answer 1

• cirrhosis
• cardiomyopathy
• pancreatic failure (bronzed diabetic –> Disorder of iron metabolism)

Question 2

bloods

How would you diagnose Haemochromatosis in males and females?

Answer 2

Female: TSAT >45% and ferritin >200 mcg/L
Male: TSAT >50% and ferritin >300 lg/L

Question 3

What is the Clinical presentation of Wilson’s disease?

Answer 3

Chorea-athetoid movements + hepatic

Question 4

How would you diagnose Wilson’s disease? how would you treat it?

Answer 4

• serum caeruloplasmin
• urinary copper
• Kaiser Fleisher rings (eyes)

Treat with : copper chelation drugs

Question 5

What is the clinical presentation of A1AT deficiency? What is the treatment?

Answer 5

• lung emphysema
• liver deposition of mutant protein –> cell damage

Treatment: supportive / liver transplant

Question 6

What is the clinical presentation of Budd-Chiari?

Answer 6

acute: jaundice + tender hepatomegaly
chronic: ascites

Question 7

what is the diagnosis and treatment of budd-chiari?

Answer 7

diagnosis: visualisation of hepatic veins with US, CT or MRI
Treatment: recanalisation, TIPS, transplant

Question 8

How would yo diagnose fibrosis / cirrhosis?

Answer 8

• liver biopsy (1st line)
• Serum markers - what kind?
  
  • albumin (decreased)
  • PT (decreased)
  • bilirubin (increased)
  • platelets (decreased)
• elastography

Question 9

What are the general symptoms of chronic liver disease?

Answer 9

• Jaundice
• fever
• loss of body hair

Question 10

What are the symptoms of compensated chronic liver disease?

Answer 10

• Xanthelasma
• Parotid enlargement
• spider naevi
• gynaecomastia
• liver (small or large)
• splenomegaly
• Hands:
  
  • liver palms
  • clubbing
  • Duputren’s contracture
  • Xanthomas
• Scratch marks on abdomen
• Testicular atrophy
• Purpura
• Pigmented ulcers

Question 11

What are the symptoms of decompensated chronic liver disease?

Answer 11

• neurological - disorientation
  
  • Drowsiness
  • Hepatic flap - non-rhythmic flapping movement of the hands when the wrists are extended, fingers spread, and the arms outstretched (often seen in hepatic encephalopathy)
  • Fetor hepaticus - musty, sweet odour of the breath (liver unable to detoxify sulfur compounds so they accumulate in the bloodstream for it to be exhaled)
• ascites
• dilated veins on abdomen
• oedema