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 42-year-old man made a complaint of restriction of motion particularly in the 4th and 5th fingers of his left hand. He had never been examined before because the restriction of motion had only arisen in the past month. The painless masses were growing slowly and were causing dysfunction of the affected joints. Although all of the MCP joints were covered with these solid and painless masses (), only the 4th and 5th MCP joints exhibited extension loss (20 and 30 degrees, resp., in the left hand). The neurovascular examination was intact. The patient has bilateral arcus cornea, which may be an indication of hypercholesterolemia (). The patient's serum cholesterol level was above normal, and he has a positive family history of early death due to myocardial infarction. There were no abnormal findings observed in the plain X-rays; however, multiple solid masses that were engaged to the extensor tendons were detected in the superficial ultrasound (USG). The severity of engagement was remarkable at the level of the MCP joints of the 4th and 5th fingers. Regarding our findings and the clinical progression, the patient underwent an open excisional biopsy and tenolysis of the extensor tendon at the 4th and 5th MCP joints.\nUnder local anesthesia and tourniquet control, a “V-shaped” excision was used to explore the masses over the extensor side of the 4th and 5th MCP joints. After the retraction of the subcutaneous tissue, 2 × 2 cm and 3 × 2 cm, solid, yellowish masses were detected over the extensor side of the 4th and 5th MCP joints, respectively (). Peritendinous fibrosis were observed as these masses infiltrated the extensor tendons thus restricting the gliding of the tendons. All masses were meticulously dissected from the tendon with devoted attention to maintain the continuity of the tendon by preserving the paratenon. The full range of motion was achieved after excision of the masses and the wound was sutured. Immediate active and passive ranges of motion exercises were started to avoid stiffness. Although the literature mentions wound complications, no issue with wound healing was encountered [].\nA biopsy specimen showed xanthoma cells dispersed between the collagen fibers of the tendon (). After thirty months followup, no recurrence or complications were detected in regard to maintaining a full range of motion of the affected joints.