Haemochromatosis

Question 1

Haemochromatosis

Answer 1

haemochromatosis= an autosomal recessive genetic condition that resullts in an iron storage disorder, causing iron overload. A recessive C282Y mutation on the human haemochromatosis protein (HFE) gene on chromosome 6. This gene is important in regulating iron metabolism.

Question 2

Haemochromatosis: Symptoms

Answer 2

Usually presents after age 40 when iron overload becomes symptomatic. Even later in females as menstruation reduces iron leaves.
* Chronic fatigue
* hepatomegaly
* testicular atrophy
* erectile dysfunction
* amenorrhea
* cognitive symptoms (memory and mood disturbances)
* joint pain
* pigmentation (bronze skin)

Question 3

Haemochromatosis: Investigations

Answer 3

• serum ferritin (not specific) with raised transferrin
• genetic testing for HFE gene after serum ferritin and transferrin
• liver biopsy with pearl’s stain - iron conc. in liver. stage fibrosis and exclude other liver pathology
• MRI - avoid biopsy

Question 4

Haemochromatosis: Complications

Answer 4

Depends on which tissue the excess iron is deposited
Liver - cirrhosis, hepatocellular carcinoma
Pancreas - secondary diabetes
Heart - cardiomyopathy
Joints - chondrocalcinosis -> artheritis
Thyroid - hypothyroidism
…. - hypogonadism, erectile dysfunction, amenorrhea and reduced fertility

Question 5

Haemochromatosis: Management

Answer 5

Venesection - regular removal of excess iron - initially weekly
Monitoring serum ferritin and treating complications