Tangier Disease in Severely Progressive Coronary and Peripheral Artery Disease

Abstract

A 37-year-old man was first referred to our lipid clinic in December 2007 for plasma lipid alteration. He presented with large, orange tonsils (Figure 1) and hepatosplenomegaly. There was no evidence of corneal opacities nor of other ocular abnormalities, and there were no nervous system abnormalities as assessed by sensitive and motor electromyography. Figure 1. Orange large tonsils. Hematologic abnormalities included thrombocytopenia and erythrocytes with altered morphology (stomatocytes; Figure 2) and function (decreased osmotic resistance). Serum levels of total cholesterol, triglycerides, and high-density lipoprotein (HDL) cholesterol were 58, 184, and 4 mg/dL, respectively; plasma apolipoprotein A-I concentrations were very low (3.9 mg/dL); and apolipoprotein A-II plasma levels were 1.7 mg/dL. Figure 2. Peripheral blood erythrocytes with numerous stomatocytes. The patient’s father (58 years of age) had serum levels of total cholesterol, HDL cholesterol, and apolipoprotein A-I of 127, 25, and 99.5 mg/dL, respectively. Moreover, he had a …