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Haemochromatosis

Introduction and epidemiology

Haemochromatosis is characterised by accumulation of iron in the body, causing toxic iron deposition in multiple organs. The most commonly affected organs are the liver, heart, and pancreas.

Hereditary haemochromatosis is the most common genetic disease of people with white ethnicity, especially in Northern Europe. It more frequently affects males >40 years. When it affects females, it occurs later than in men, as females lose iron through menstruation.

Etiology

Hereditary haemochromatosis is the most common form of haemochromatosis. It’s an autosomal recessive disease, most frequently caused by mutation in the HFE gene. The penetrance is low, and so only a few percent of those who are homozygotic for the gene develop disease.

Haemochromatosis can also occur secondarily to:

• Thalassaemia
• Multiple transfusions
• Too large iron intake

Clinical features

It takes many years for accumulated iron levels to reach toxic levels, and so during this time only laboratory alterations can be detected. Initially, non-specific symptoms like fatigue and joint pain, especially of the finger joints, are the only symptoms. Later, toxic iron deposition in organs causes severe complications:

• Cirrhosis
• Cardiomyopathy
• Diabetes
• Grey/bronze discoloration of skin

Diagnosis and evaluation

Elevated ferritin and transferrin saturation, in the absence of inflammation, is typical for haemochromatosis. Genetic tests confirm the diagnosis.

Treatment

Early diagnosis and treatment are important, as this can prevent the development of complications.

The main treatment is regular phlebotomy, initially 1 – 2 per week to reach normal ferritin levels, after which the procedure can be performed less frequency.

Second line treatment is with iron chelators like deferoxamine. These drugs can cause auditory and visual side effects, which is why they’re not the first choice.

Wilson disease

See neurology 2 topic 27B.