(Hellenic Journal of Cardiology) HJC ñ 331 Hellenic J Cardiol 45: 331-333, 2004 T angier syndrome is a rare syn- drome of genetic origin that caus- es disturbances of lipid metabo- lism. Around 70 cases have been described in the literature. 1 The genetic damage re- sults in a reduction of cholesterol excretion by the peripheral cells. The syndrome is manifested through low levels of high den- sity lipoprotein (HDL) and total choles- terol and elevated triglyceride levels. 2,3 The increased deposition of cholesterol esters it causes in the cells of the reticuloendothelial system leads to swelling of the tonsils, the spleen and in some cases the liver. 4,5 In het- erozygotes of the syndrome the clinical manifestations are milder and the lipi- daemic profile is less affected. 2 Homozy- gotes and heterozygotes have a greater risk of coronary artery disease. 6 Heterozygote Patient with Tangier Syndrome and Coronary Artery Disease JOHN S. KOGIAS, MICHAEL J. BONIOS, KONSTANTINOS T. DIPLARIS, MIRANDA A. PAPALOPOULOU, SKEVOS K. SIDERIS Cardiology Department, General Hospital of Karditsa, Greece Disturbances of lipid metabolism form a group of diseases that cause a change in the quantity of lipids in the blood or an alteration in their composition. Tangier syndrome belongs to this category and is a rare dis- ease of genetic origin that alters the composition of high density lipoproteins (HDL) in the plasma. The syn- drome manifests itself through low levels of HDL, low density lipoprotein (LDL) and total cholesterol and elevated levels of triglycerides. Because of the increased deposition of cholesterol esters in the cells, there is swelling of the tonsils with the appearance of characteristic orange-coloured maculae, swelling of the spleen and in some cases also of the liver. We present the case of man of Greek origin, 67 years old, who came to our hospital because of episodes of paroxysmal atrial fibrillation and concomitant chest pain. The general laboratory tests showed low levels of HLD, LDL and total cholesterol. A more careful examination of the mouth and fauces revealed the orange maculae characteristic of the syndrome. The diagnosis was confirmed by measuring the patient’s A1 serum apolipoprotein concentration, which was significantly below the normal limits and at levels corre- sponding to the heterozygotes of Tangier syndrome. We also take the opportunity to present a short review of the relevant literature. Manuscript received: February 3, 2004; Accepted: June 22, 2004. Address: S. Sideris 1, Tsakalof St., 431 00 Karditsa, Greece e-mail: skevos1@otenet.gr Key words: Tangier syndrome, HDL cholesterol, apolipoprotein A1. Case Report Case Report Case description A 67-year-old man came to our hospital because of episodes of paroxysmal atrial fibrillation and concomitant chest pain. The clinical examination showed no pathological findings. Heart sounds were normal, without extra sounds or mur- murs, and the respiratory sounds were al- so physiological. Chest X-ray showed nor- mal lung fields and cardiothoracic index 50%. The patient’s history contained sim- ilar anginal episodes that had been diag- nosed as due to coronary artery disease after cardiac catheterisation carried out 2 months previously. The catheterisation found that the main branch of the left coronary artery was free of stenoses, the anterior descending branch was an