Haemochromatosis

Question 1

What is haemochromatosis?

Answer 1

Haemochromatosis is a multisystem disorder of dysregulated dietary iron absorption and increased iron release from macrophages.

Question 2

What are the risk factors of haemochromatosis?

Answer 2

White 
Middle ages 
FHx
Male
Supplemental iron

Question 3

What is the epidemiology of haemochromatosis?

Answer 3

The rare forms of haemochromatosis (types 2-4) have been reported worldwide. In contrast, the most common form, type 1 (HFE-related) haemochromatosis, occurs primarily in people of northern European descent.

Question 4

What are the signs and symptoms of haemochromatosis?

Answer 4

Fatigue
Weakness
Lethargy
Arthralgia
Hepatomegaly
DM
Impotence
Loss of libido
Skin pigmentation

Question 5

What are the investigations for haemochromatosis?

Answer 5

Serum transferrin saturation (> 45%)
Serum ferritin (raised)

MRI liver/ liver biopsy/ LFTs (damage)

Fasting blood sugar
Echo/ ECG

testosterone/ FSH/ LH assays

Bone densitometry