The patient is a 4-year-old African American male who presented with cutaneous xanthomas on the extensor surfaces of his arms, knees, elbows, and Achilles tendon. The patient had these xanthomas since he was 1 year old. The patient was found to have serum cholesterol level greater than 1000 mg/dL and triglyceride level of 170 mg/dL. The patient was started on low-fat and low-cholesterol diet and began medication treatment with atorvastatin and ezetimibe. Despite maximal medical therapy and nutritional modifications, the patient's cholesterol levels still ranged between 500 mg/dL and 600 mg/dL. The patient's family history was remarkable in that both parents had high cholesterol levels and the father had arcus senilis corneae. Due to the patient's clinical history and symptoms and the symptoms present in his immediate family, the patient was diagnosed with homozygous FH. A cardiac evaluation with a magnetic resonance angiogram (MRA) of the heart revealed mild supravalvular aortic narrowing, distal transverse arch, and proximal descending aorta narrowing and a luminal irregularity of descending aorta. The patient remained on maximal medical therapy and dietary modifications, and after three years, he continued to develop new cutaneous xanthomas around his ankles and at the base of his fingers. His cholesterol levels persisted in the range between 500 mg/dL and 600 mg/dL, and he had no regression of his cardiac vascular lesions on MRA. Due to the failure of medical therapy to control his symptoms, the patient was listed for OLT.\nThe patient successfully underwent deceased-donor OLT. There were no intraoperative or postoperative complications. The patient's immunosuppression regimen consisted of tacrolimus, mycophenolate, and prednisone. The patient's steroids were tapered postoperatively per our transplant center protocol. Atorvastatin was also continued post-operatively. Six months after OLT, the patient's xanthomas had regressed substantially and were much softer. The patient had one postoperative complication 2 years after OLT consisting of an episode of acute rejection, which was successfully treated with steroids. MRAs of the heart were performed annually to ascertain regression of atherosclerotic changes. The MRA 3 years after OLT continued to showed supravalvular aortic narrowing and diffuse, mild narrowing of the distal aortic arch with minimal improvement in the luminal caliber but no change in wall thickness severity. Of note, there was significant improvement in the degree of aortic wall thickness compared to the initial MRA. Currently, the patient is doing well over 3 years after transplant, and his cutaneous xanthomas have completely resolved. The patient has been maintained on tacrolimus and atorvastatin. His most recent cardiac testing including stress test, echocardiogram, and electrocardiography is normal. At his last followup, his serum cholesterol level is 152 mg/dL and LDL level is 75 mg/dL.
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).