Single heterozygote splice mutation in the ABCA1 gene is associated with diffuse atherosclerotic disease in a low high-density lipoprotein syndrome

A 50-year-old woman was referred with a 6-month history of dyspnoea. She presented with obesity (body mass index: 40.9 kg/m2), blood pressures of 140/80 mmHg on the right arm and 100/70 mmHg on the left, a left subclavian bruit, and corneal clouding covering the pupil ( Panel A ). Laboratory tests were notable for haemoglobin of 9.9 g/dL (normal: 12–16), stomatocytes ( Panel B ) and …