A 46-year-old man (weight, 78 kg; height, 172 cm), who resided in the countryside of Parnaíba, Piauí, Brazil, consulted us for complaints of dizziness and frequent headaches. He was diagnosed with FH according to the clinical and laboratory criteria established in the Brazilian Guideline for Familial Hypercholesterolemia (based on the criteria of the Dutch Lipid Clinic Network) []. In addition, he had xanthomas on the elbows, soles of the feet, and Achilles tendons () and a family history of CAD, since his father died from acute myocardial infarction (the patient was unable to inform the occurrence of CAD in other family members). The patient had no other cardiovascular risk factors such as smoking, high blood pressure, and diabetes mellitus and was physically active. The patient's LDL-C and HDL-C levels were 545 and 53 mg/dL, respectively. His fasting glucose and triglyceride levels (85 and 158 mg/dL, resp.) were within normal limits.\nThe patient reported no use of lipid-lowering medication until the time of diagnosis. For socioeconomic reasons and/or lack of instruction, he had not sought medical care until when his symptoms eventually made him unable to work in the field. However, no symptoms of CAD were revealed.\nNeck auscultation revealed a systolic murmur 3+/6+ in the neck, radiating to the skull. Electrocardiography, chest radiography, stress testing, Holter monitoring, and echocardiography revealed no abnormalities. Visual examination of the aortic root and aortic valve revealed no signs of their involvement (). On ultrasonography of the carotid arteries, we observed severe stenosis in the left internal carotid artery (LICA), with stenosis estimated between 70% and 90% (according to the criteria established by the European Carotid Surgery Trial and North American Symptomatic Carotid Endarterectomy Trial, as well as Dopplervelocimetric data) and moderate stenosis in the right internal carotid artery (RICA) estimated between 40% and 50% (). For the LICA, the peak-systolic (PSV) and end-diastolic velocity (EDV) cutoff values were 208.5 cm/s and 54.5 cm/s, respectively (Dex: 0.83 cm; Dint: 0.20 cm; %Std: 76.13); RICA PSV was 91.72 cm/s and RICA EDV was 37.37 cm/s (Dex: 0.74 cm; Dint: 0.44 cm; %Std: 41.27). We observed the presence of plaques in the anterior and posterior walls of the internal carotid artery and common carotid artery, which were characterized as bulky plates extending to the middle third of the internal coronary arteries (ICAs) and as predominantly echogenic and hyperechoic, with less than 50% of the area being echolucent with uneven surfaces, according to the Classification of Atherosclerotic Carotid Boards [].\nA low-cholesterol diet was immediately recommended to the patient, and clinical treatment with statins was initiated. Concurrently, the patient underwent percutaneous revascularization by stent placement in the common and left internal carotid artery, and postoperative control showed adequate blood flow (). No intraoperative or postoperative complications were encountered. The patient remained asymptomatic, but the LDL-C levels remained high (320 mg/dL).
A 43-year-old African-American male presented with a 35-year history of multiple, slowly enlarging, subcutaneous nodules, which restrict his joint motion and are frequently painful. On examination, multiple ivory colored, firm, but mobile nodules overlie the dorsal aspects of the proximal and distal interphalangeal joints and multiple metacarpal phalangeal joints in the hands (fig. ). Nodules are also noted over the extensor surfaces of the knees (fig. ), Achilles tendons, right elbow (fig. ), sole of the feet, and the helix, scapha, and anti-helix of the ears (fig. ). He has had surgical removal of the nodules in the past, but they recur within a few years. Laboratory tests were remarkable for a total cholesterol of 518 mg/dl (13.4 mmol/l).