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 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.