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.
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.