Abstract

This would be the investigation of choice if suspecting Wilson's disease, which presents with signs of chronic liver disease and neuropsychiatric features.
This is a presentation of hereditary haemochromatosis. It is an autosomal recessive disorder of excessive absorption of dietary iron, leading to deposition in several organs and organ failure. Pituitary involvement causes hypogonadotrophic hypogonadism and results in loss of libido and impotence.
Genetic testing is available and liver biopsy is diagnostic. However, iron studies would be the initial investigation of choice and would typically show a raised serum ferritin and reduced total iron-binding capacity.
