Dogra Kanchan, Goyal Alpesh, Khadgawat Rajesh, Gupta Yashdeep, Rout Diptiranjan, Fulzele Parag Prabhakar, Chaurasia Rahul, Coshic Poonam, Chatterjee Kabita
Department of Transfusion Medicine, All India Institute of Medical Sciences, New Delhi, India.
Department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Asian J Transfus Sci. 2017 Jan-Jun;11(1):58-61. doi: 10.4103/0973-6247.200766.
Familial hypercholesterolemia (FH) is an autosomal dominant disorder due to mutation of apolipoprotein-B receptor gene causing severe dyslipidemia. Lifestyle modification and medical treatment attenuate the disease progression, but as these fail to control the blood cholesterol levels, low-density lipoprotein (LDL) apheresis comes forth as a treatment option. To the best of our knowledge, the following is the very first case of pediatric FH being treated by LDL-apheresis to be reported from India. A severely malnourished female child presented with yellowish skin lesions over different parts of the body, viz., bilateral Achilles tendon, both knees, elbows, both pinnae, and outer canthus of both eyes. She had a strong family history of borderline hypercholesterolemia and was diagnosed as a case of FH. She was maintained on diet modification. LDL-apheresis was planned as the cholesterol levels were not controlled with the diet modificationt. However, unavailability of an appropriate kit in India for LDL-apheresis led to the use of the modified PL1 kit meant for therapeutic plasma exchange procedures. We conducted two sessions of LDL-apheresis. After the first session, the LDL-cholesterol (LDL-C) level fell by 75.9% and the total cholesterol fell by 73.5%. A second procedure led to a decline in total cholesterol level by 18.6% and LDL-C by 19.46%. Subsequently, she was advised diet modification and statin therapy with regular follow-up after every 6 months. Thus, the cascade filtration technique is a safe and effective treatment option for removing the undesired lipoproteins.
家族性高胆固醇血症（FH）是一种常染色体显性疾病，由载脂蛋白B受体基因突变引起严重血脂异常。生活方式的改变和药物治疗可减缓疾病进展，但由于这些方法无法控制血液胆固醇水平，低密度脂蛋白（LDL）单采术成为一种治疗选择。据我们所知，以下是印度报道的首例采用LDL单采术治疗的儿童FH病例。一名严重营养不良的女童全身不同部位出现黄色皮肤损害，即双侧跟腱、双膝、双肘、双耳廓和双眼外眦。她有明显的家族性边缘性高胆固醇血症病史，被诊断为FH病例。她通过饮食调整进行维持治疗。由于饮食调整未能控制胆固醇水平，计划采用LDL单采术。然而，印度没有适用于LDL单采术的合适试剂盒，因此使用了用于治疗性血浆置换程序的改良PL1试剂盒。我们进行了两次LDL单采术。第一次术后，低密度脂蛋白胆固醇（LDL-C）水平下降了75.9%，总胆固醇下降了73.5%。第二次手术使总胆固醇水平下降了18.6%，LDL-C下降了19.46%。随后，建议她进行饮食调整和他汀类药物治疗，并每6个月定期随访。因此，级联过滤技术是去除不需要的脂蛋白的一种安全有效的治疗选择。
