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).
An 18-year-old woman complained of swelling with morning stiffness in multiple small joints, including the metacarpophalangeal (MCP) and proximal interphalangeal of both hands, and the 1st metatarsophalangeal joint of the left foot, without pain, fever, or signs of Raynaud symptoms. In recent years, the swelling in the joints worsened and joint deformation occurred; in addition, an oval mass appeared on the lateral margin of the right foot. When she was 2 years old, she had multiple nodules on the elbow joint, popliteal fossa, and hip, without any inducements. After surgical resection, the lesion relapsed again symmetrically so that the patient underwent an open excisional biopsy bilaterally on the elbows, first web, heel, and popliteal fossa under general anesthesia in our hospital 3 years ago. After the retraction of the subcutaneous tissue, 4 cm × 4 cm × 4 cm (the largest), solid, soft, sharply defined, yellowish masses were detected. A biopsy specimen showed juvenile xanthogranuloma (Fig. ). Immunohistochemical staining revealed that CD68 (+), CK (−), Ki-67 (+), CD1a (−), S100 (−), and acid fast staining (−).\nHer routine laboratory examination showed that serum cholesterol and low-density lipoprotein cholesterol (LDLC) levels were above normal, and the levels of antistreptolysin O and anticyclic citrullinated peptide antibodies (Anti_ccp) were also higher than the normal range; but the levels of erythrocyte sedimentation rate, antiextractable nuclear antigen, human leukocyte antigen-B27, rheumatoid factor, antinuclear antibody, antineutrophil cytoplasmic antibodies, complement, total protein, C-reactive protein, and blood glucose were normal.\nComputed tomography of the right hand showed that there was only soft tissue swelling on multiple small joints, which revealed hypointensities on T1-weighted images and hyperintensities on T2-weighted images (Figs. and ). In additional, there was an interesting finding of an RA appearance, which was thickened, fusiform, and not uniformly enhanced (Fig. ). Synovial hyperplasia or inflammation of the small joints was also observed.\nRegarding our findings and the clinical progression, the patient underwent an open excisional biopsy and tenolysis of the 3rd MCP joint in her left hand. A biopsy specimen showed several foamy cells in fibrous and fat tumor-like hyperplasia (Fig. ). Further, immunohistochemical staining revealed CD68 (+), S100 (−), MDM-2 (+), HHF (focal+), LCA (+), and Ki-67 (5%+). Finally, it was diagnosed as xanthoma. After 3 months of follow-up, no recurrence or complications were detected regarding a full range of motion remaining of the affected joints.\nIn this case, the patient was an 18-year-old woman with positive Anti_ccp and morning stiffness, which was easily misdiagnosed for RA, especially in the early stage. According to early rheumatoid arthritis (ERA) diagnostic criteria[ (Table ), the patient could be confirmed as ERA. However, RA is defined as a systemic disease of unknown etiology, manifesting as chronic, symmetric, polyarthritis. When there is inflammation, there should be pain. In this case, no joint pain was detected, which did not conform to the typical performance of RA. Taking laboratory examination results into consideration, the levels of total cholesterol and triglycerides were also above normal; it should also be considered that this disease related to whole body metabolic abnormalities or abnormal lipid deposition. It is imperative to evaluate the lesion with the biopsy, because the treatment principle of xanthoma is essentially different from the RA. For the xanthoma, the basic treatment principle is a balanced diet and reducing blood fat, namely, to strengthen health education, adjust the diet structure, restrict calories in food intake, give lipid-decreasing drugs regularly, and detect hematic fat on a regular basis. Moreover, xanthomas on different parts of the body should be treated accordingly. For example, nodular xanthoma on the Achilles tendon can be resected; however, eyelid xanthoma can be treated in steps by using freeze or laser surgery, etc.\nThe patient was treated with 20 mg of atorvastatin daily to reduce blood fat during her hospitalization. Her cholesterol and LDLC levels fell from 16.12 and 13.30 mmol/L to 11.92 and 10.20 mmol/L, respectively. After being discharged, she was switched to 10 mg of rosuvastatin daily. However, during her regular 3-month follow-up, her lipid level effect was poorly controlled—the levels of cholesterol and LDLC were higher.