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.
The patient is a Hispanic female diagnosed with homozygous FH at the age of 3 years old. Prior to diagnosis, she had developed multiple cutaneous xanthomas on her hands, feet, elbows, and knees (Figures , , and ). Furthermore, the patient complained of chest pain during exertion. Prior to treatment, serum cholesterol ranged between 500 mg/dL and 900 mg/dL. When the patient was 3 years old, she was started on rosuvastatin and ezetimibe. The patient's cholesterol level did not improve; serum cholesterol remained between 600 mg/dL and 700 mg/dL, and serum LDL level was 358 mg/dL. Genetic mutational analysis confirmed the diagnosis of homozygous FH and demonstrated a LDL-receptor genetic mutation with a DNA base change from adenine to guanine. The patient's only family history was a cousin who also had been diagnosed with homozygous FH and underwent OLT.\nThe patient's cardiac stress test showed no ischemic changes and echocardiogram demonstrated a normal aortic valve with only a trace amount of aortic regurgitation and mild mitral regurgitation, without aortic stenosis. Bilateral carotid artery ultrasound revealed intimal thickening and noncalcified plaques. Computed tomography angiography demonstrated moderate calcification of the aortic valve annulus; calcium-score screening of the right, left main, left anterior descending, and left circumflex coronary arteries was normal. Additionally, cardiac catheterization showed normal coronary arteries without evidence of stenosis or calcification, but also showed mild aortic supravalvular narrowing. The patient was started on LDL aphaeresis due to the exertional angina.\nDue to the severity of her symptoms and the failure of medical management, the patient was listed for and then underwent OLT at the age of 11 years old. The patient had no intraoperative or postoperative complications and was discharged home one week later. The patient's immunosuppression consisted of tacrolimus and prednisolone. The steroids were tapered post-operatively. Her serum cholesterol level and LDL level at the time of discharge were 192 mg/dL and 141 mg/dL, respectively. The patient remains free from exertional angina and her serum cholesterol and LDL levels remain in the normal range since her last followup at 6 months after OLT.