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.
A 62-year-old man was admitted to our department due to a gradually evolving disseminated papulonodular eruption on face, flexors, and trunk for 30 years ago. On examination, multiple, well-defined, yellowish brown papules and nodules and tumor-like lesions were seen symmetrically on upper and lower eyelids (). Such papules also were observed on the cheeks and perioral region. On the anterior of the neck the lesions were confluent and formed a diffused plaque ().\nHundreds of red to brown papules were distributed symmetrically on axilla, genitalia, poplitea, and trunk, some of which are confluent together and formed plaque or tumor-like lesions (Figures and ). There were also some papule and nodules on nasal mucosa ().\nHe had no history of polyuria or any previous medical history.\nAnalysis at that point did not reveal any abnormalities in urine osmolality. Laboratory findings revealed a white blood cell count of 10,300 cells/mL containing 74% neutrophils. C-reactive protein was 7 mg/dL (normal values of 0.5 mg/dL).\nFasting cholesterol was 148 (normal values up to 200) and triglyceride was 141 (normal values up to 150).\nChest X-ray was normal.\nMagnetic resonance imaging of the brain and pituitary revealed no abnormalities.\nHistopathologic examination of skin biopsies showed a dense dermal diffuse histiocytic infiltration interspersed with mixed inflammatory cells and giant cells (Figures and ). Abundant foam cells were also seen (). A neural infiltration was not present. Immunohistochemistry was positive for CD68 (KP1) () and negative for S-100 protein.