Haemochromatosis

Disorder of iron overload

Autosomal recessive

Clinical features

It affects different parts of the body as below and clinical features related to organs infected

Joints- arthralgia

Hearts- Restrictive cardiomyopathy

Pancreas- Bronze diabetes

Liver- Cirrhosis

Skin- Bronze / grey colour

Pituitary- Hypogonadism, impotence

Diagnostic investigation

Serum ferritin and transferrin saturation

Other investigations include

HFE gene testing

CT abdomen

Liver biopsy

Blood glucose

LFT

ECG

Echocardiogram

MRI brain

Management

Refer to gastroenterologist

Venesection depending on iron overload

Desferrioxamine

Screen 1st-degree relatives (Ferritin studies for older patients/ adult and Genetic testing in younger individuals)

Avoid alcohol

Referral to dietician/ Avoid food rich in iron such as apple/ pomegranate