MISC. Conditions

Question 1

What is Hereditary Haemochromatosis?

Answer 1

Autosomal recessive disorder characterised by the INCREASE IRON absorption in the intestines.

It leads to excess iron accumulation in various organs.

Question 2

What are common symptoms of Hereditary Haemochromatosis?

Answer 2

• Arthralgia (joint pain)
• Bronze skin pigmentation
• Chondrocalcinosis
• Erectile dysfunction, hypogonadism
• Diabetes mellitus
• Memory disturbances

Each symptom can indicate iron overload and organ damage.

Question 3

How is Hereditary Haemochromatosis diagnosed?

Answer 3

• HIGH serum ferritin
• HIGH serum transferrin saturation (most useful marker)

These tests help assess iron levels in the body.

Question 4

What is the first-line treatment for Hereditary Haemochromatosis?

Answer 4

Lifelong venesection (remove excess iron every 3 weeks)

This treatment helps manage iron levels effectively.

Question 5

What is an alternative treatment for Hereditary Haemochromatosis if venesection is contraindicated?

Answer 5

Desferrioxamine (iron binding agent)

This medication helps chelate excess iron.

Question 6

What is Alpha-1 antitrypsin deficiency (ATT)?

Answer 6

A glycoprotein synthesised by the liver that, when misfolded, commonly causes liver injury and emphysema.

It affects lung and liver function.

Question 7

What are the diagnostic markers for Alpha-1 antitrypsin deficiency?

Answer 7

• Low serum Alpha-1 Antitrypsin (ATT)
• High ALT and GGT

These markers indicate liver dysfunction associated with ATT deficiency.

Question 8

What are the symptoms of Alpha-1 antitrypsin deficiency?

Answer 8

Shortness of breath (SOB)

This symptom is indicative of lung involvement.

Question 9

What is the conservative management for Alpha-1 antitrypsin deficiency?

Answer 9

• Smoking cessation
• Vaccinations

These measures help prevent further lung damage.

Question 10

What is the treatment for severe Alpha-1 antitrypsin deficiency?

Answer 10

• IV AAT
• Liver transplant

These options are for advanced cases needing more aggressive treatment.

Question 11

What is Wilson’s Disease?

Answer 11

Autosomal recessive disorder of a copper-transporting ATPase that impairs incorporation of copper in caeruloplasmin in hepatocytes.

This condition leads to copper accumulation in tissues.

Question 12

What are the signs and symptoms of Wilson’s Disease?

Answer 12

• Kayser-fleischer rings (eyes)
• Tremor, low mood, cognitive symptoms (CNS)
• Jaundice, hepatomegaly (liver)

These symptoms are indicative of copper toxicity.

Question 13

What are the blood diagnostic markers for Wilson’s Disease?

Answer 13

• 24hr copper excretion = High
• Serum free copper = High
• Serum total copper = Low
• Bloods: ALT normal

These tests help confirm the diagnosis of Wilson’s Disease.

Question 14

What dietary changes are recommended for Wilson’s Disease?

Answer 14

Avoid copper-rich foods such as:
* Organ meats
* Shellfish
* Chocolate
* Mushrooms
* Nuts/seeds
* Potatoes

Reducing copper intake is crucial for managing the condition.

Question 15

What is the lifelong treatment for Wilson’s Disease?

Answer 15

Lifelong Penicillamine (copper binding agent)

This medication helps remove excess copper from the body.

Question 16

What is Gilbert’s syndrome?

Answer 16

Benign, hereditary condition characterised by intermittent unconjugated hyperbilirubinaemia, often exacerbated by physiological stress.

It results from reduced activity of hepatic enzyme UGT1A1.

Question 17

What causes increased serum unconjugated bilirubin levels in Gilbert’s syndrome?

Answer 17

Reduced activity of hepatic enzyme UGT1A1

This enzyme is responsible for bilirubin conjugation.