Jaeger Beate Roxane, Tsobanelis Theoharis, Bengel Frank, Schwaiger Markus, Seidel Dietrich
Institute of Clinical Chemistry, Universitätsklinikum Grosshadern, Ludwig-Maximilians-Universität München, Germany.
J Pediatr. 2002 Jul;141(1):125-8. doi: 10.1067/mpd.2002.124384.
Homozygous familial hypercholesterolemia (FHH) leads to severe premature atherosclerosis. A 22-year-old woman with FHH has been treated with a combination of H.E.L.P. apheresis (heparin-mediated extracorporeal LDL precipitation) and statins for 15 years. The combined treatment maintained a plasma LDL-cholesterol reduction from baseline of 840 to 122 mg/dL (85% reduction). In addition, H.E.L.P. apheresis reduced the elevated lipoprotein(a) and fibrinogen levels by 60% to 70%. All xanthomata disappeared. There is no evidence of premature atherosclerosis studied by means of electron beam computed tomography and (13)N-ammonia positron emission tomography: The entire coronary vasculature is free of calcifications. Her myocardial blood flow at rest (87 mL/100 g/min) and during stress (308 mL/100 g/min) and the coronary flow reserve (3.5) are normal after H.E.L.P. treatment. This case demonstrates the efficacy and safety of the combined treatment of H.E.L.P. apheresis and statins even in serious cases of FHH.
纯合子家族性高胆固醇血症（FHH）会导致严重的早发性动脉粥样硬化。一名患有FHH的22岁女性接受肝素介导的体外低密度脂蛋白沉淀（H.E.L.P.）血液分离术和他汀类药物联合治疗达15年。联合治疗使血浆低密度脂蛋白胆固醇从基线水平的840mg/dL降至122mg/dL（降低了85%）。此外，H.E.L.P.血液分离术使升高的脂蛋白（a）和纤维蛋白原水平降低了60%至70%。所有黄色瘤均消失。通过电子束计算机断层扫描和（13）N-氨正电子发射断层扫描研究，没有早发性动脉粥样硬化的证据：整个冠状动脉血管系统无钙化。接受H.E.L.P.治疗后，她静息时的心肌血流量（87mL/100g/min）、应激时的心肌血流量（308mL/100g/min）以及冠状动脉血流储备（3.5）均正常。该病例证明了H.E.L.P.血液分离术和他汀类药物联合治疗即使在严重的FHH病例中也具有有效性和安全性。
