CHARACTERIZATION OF ATHEROSCLEROSIS IN A PATIENT WITH FAMILIAL HIGH-DENSITY-LIPOPROTEIN DEFICIENCY

We describe the cardiovascular state of a 60-year-old homozygous patie nt with familial HDL deficiency (Tangier disease). The patient was exa mined by coronary angiography and intravascular ultrasound because of chest pain at rest and on exertion. We found a normal left ventricular function, moderately diffuse coronary sclerosis without stenosis and no critical stenosis of peripheral arteries. Intravascular ultrasound revealed the three layer appearance of arterial intima, media and adve ntitia with normal thickness. No calcified plaques or intimal hyperpla sia could be detected apart from a single, discrete atherosclerotic le sion in one iliac artery segment. Concentric non-occlusive atheroscler otic lesions which are readily detectable with intravascular ultrasoun d were not found. The lack of severe atherosclerosis was remarkable in sofar as massive foam cell formation and the virtually complete absenc e of circulating HDL is characteristic of Tangier disease and has been previously demonstrated in this patient. Our findings suggest that HD L deficiency and foam cell formation in Tangier disease are not necess arily associated with accelerated development of atherosclerosis.