Haemochromatosis

Which element is in excess in hereditary haemochromatosis?

Iron

Abnormality of which gene leads to classical hereditary haemochromatosis?

Haemochromatosis protein (HFE) gene

What is the mode of inheritance of classical hereditary haemochromatosis?

Autosomal recessive

On which chromosome is the HFE gene located?

Chromosome 6

Which are the 2 common HFE variants?

1) C282Y

2) H63D

Homozygosity of which variant accounts for approximately 90% of hereditary haemochromatosis cases?

C282Y variant

How may the skin be affected?

Hyperpigmentation – bronze skin

Which cutaneous porphyria may occur?

Porphyria cutanea tarda (PCT)

List 2 blood tests which can aid the diagnosis

1) Ferritin

2) Transferrin saturation

How is the ferritin level affected?

Elevated

How is the transferrin saturation level affected?

Elevated

List 4 cardiovascular complications

1) Dilated cardiomyopathy

2) Heart failure

3) Conduction disturbances

4) Arrhythmias

List 2 hepatic complications

1) Cirrhosis

2) Hepatocellular carcinoma

List 4 endocrine complications

1) Diabetes mellitus

2) Hypopituitarism

3) Hypogonadism

4) Hypothyroidism

Which metacarpophalangeal (MCP) joints are commonly affected in arthropathy secondary to hereditary haemochromatosis?

2nd and 3rd metacarpophalangeal joints