Ward Notes

Question 1

What are the major clinical manifestations of Hereditary Haemachromatosis?

Answer 1

Liver disease
Weakness and lethargy
Skin pigmentation
Diabetes Mellitus
Arthropathy
Male impotence
Cardiac dysfunction, such as heart failure or conduction defects

Question 2

What transferrin saturation and serum ferritin are required for the diagnosis of hereditary Haemachromatosis?

Answer 2

Transferrin Sat %= >45%

Serum ferritin>200ng/mL

Question 3

What are the most important acquired causes of iron overload?

Answer 3

Underlying liver disease

XS EtOH

Question 4

What are the clinical presentations of Lithium toxicity?

Answer 4

Acute: Nausea and vomiting, diarrhoea
Chronic: Neurological signs, such as sluggishness, ataxia, confusion, agitation
Severe poisoning: can cause seizures, non convulsive status epilepticus, or encephalopathy

Question 5

What can increase a patients susceptibility to lithium poisoning?

Answer 5

Being elderly
Dehydration
Decline in renal function

Question 6

What investigations can assist with the diagnosis of Lithium toxicity?

Answer 6

Serum lithium concentration (normal range: 0.8-1.2mmol/L)

Question 7

What gene is mutated in Hereditary Haemachromatosis?

Answer 7

HFE- classical hereditary Haemachromatosis (Dx in adulthood)