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Sitosterolaemia is a very rare disease—only about 100 individuals with the condition have been described in the medical literature.1 It is caused by mutations in the ABCG5 or ABCG8 genes, which code for the two subunits of the heterodimeric G5G8 sterol transporter.2 Malfunction of this transporter causes overabsorption of plant sterols and reduced excretion in the bile. The consequent accumulation of sitosterol results in skin deposition producing tuberous xanthomata and accelerated atherosclerosis.
In this case, the rare appearance of tuberous xanthomata in a very young child led to the identification of disease. The initial cholesterol result (17.8 mmol/L), with normal triglycerides, was so high that the first item in the …
Handling editor Tahir S Pillay.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests TMR is currently in receipt of project grants from: Synageva BioPharma Ltd. (1A Local Board Road, Watford, Hertfordshire WD17 2JP, UK), Genzyme Therapeutics Ltd. (4620 Kingsgate, Cascade Way, Oxford Business Park South, Oxford OX4 2SU, UK) and Shire Pharmaceuticals Ltd. (Hampshire International Business Park, Chineham, Basingstoke, Hampshire RG24 8EP, UK).
Patient consent Not required.
Provenance and peer review Commissioned; internally peer reviewed.