Haemachromatosis

Question 1

Patient presents with high ferritin.

Impression/DDx/Goals

Answer 1

Impression
Ferritin is an acute phase reactant, thus this most likely is representative of acute/chronic inflammatory condition (infection, alcoholism, diabetes, etc). However, persistently elevated/massively elevated ferritin likely is indicative of haemachromatosis.

Goals of management:
- Identify aetiology of elevated ferritin
- implement appropriate treatment and long-term management plan
- prevent organ dysfunction due to iron overload

Question 2

What is Haemachromatosis?

Answer 2

Haemachromatosis:
- hereditary condition (HFE gene autosomal recessive)
- excessive iron absorption
- subsequent iron overload
- Common in northern Europeans

Iron overload complications:
- multiorgan damage (liver cirrhosis, skin hyperpigmentation, cardiomyopathy, diabetes, maliganncy, etc)

Question 3

Haemachromatosis - History

Answer 3

History:
- Sx: infection, systemic illness, complications of chronic iron overload (HF symptoms, liver failure), other nonspecific sx
- PMHx: other medical conditions in explanation
- FamHx
- Medications
- SNAP

Question 4

Haemachromatosis - Examination

Answer 4

Exam:
- Baseline obs
- vital signs
- systems review (cardio, abdo exams)

Question 5

Haemachromatosis - Investigations

Answer 5

Investigations:
Bedside: ECG
Bloods: FBC, Iron studies, LFTs, BSL (T1DM), HBa1C, CRP
Imaging: MRI for Iron deposition (combination scans), US Elastography for cirrhosis [regular monitoring on a screening basis]
Other: Echo

Additional: Genetic testing for HFE gene mutations, bleed the homozygous patients.

Question 6

Haemachromatosis: Management

Answer 6

Management:
Mainstay of treatment is regular phlebotomy to maintain low ferritin stores (50-150 depending on lab). Indicated in patients with persistently heightened ferritin >500. Frequency of Phlembotomy is tailored to patients clinical requirements.

Otherwise, patients can be managed expectantly if their risk of progression to iron overload is low.

Just need regular review period for FBC and iron studies to ensure appropriate iron stores are maintained.

Supportive
- avoidance of alcohol (liver damage)
- no need to reduce iron in the diet