Long-Term Follow-Up of a Homozygous Familial Hypercholesterolemic Patient Receiving Regular Double Filtration Plasmapheresis - Case Report and Literature Review

Abstract

Homozygous familial hypercholesterolemia (HoFH) is a very rare condition (1 case per 1 million people) with a dismal outcome due to inevitable coronary artery disease that occurs when left untreated. Lipoprotein apheresis (LA), previously known as low-density lipoprotein (LDL) apheresis, is very effective in reducing LDL-cholesterol (LDL-C) if HoFH is refractory to aggressive drug therapy and diet control. In this study, we report a case with HoFH, who presented with xanthomata over the 4 limbs when she was 3 years old. When she was 11 years old, she began treatment with semi-selective LA with double filtration plasmapheresis (DFPP) once per week because HoFH was refractory to high-dose statin and diet control. LDL-C was reduced from 8.2 ± 0.9 to 2.69 ± 0.75 mmol/l (reduction rate = 67.3 ± 6.1%). The xanthomata over the 4 limbs were nearly completely resolved after 2 years of DFPP. Two years later, after the initiation of DFPP, we performed coronary angiography and echocardiography for regular checkup in the absence of chest pain, and the result was negative. To date (11 years after initiation of DFPP), she has not complained of any chest pain, shown intolerance to exercise, or exhibited ST-T change on electrocardiography. At the age of 20, multidetector computed tomography showed no significant stenosis over the coronary arteries. At the most recent follow-up visit, she was found to have good heart function and no xanthomata. LA is effective in the treatment of HoFH when drug therapy and diet control fail. With this treatment, pre-existing xanthomata can regress and coronary artery disease can be prevented.

Plasma purification is associated with reduced inflammation factors and down-regulation of lipid metabolic and ER stress proteins in patients with hyperlipidemia

“…Our study indicates that DFPP could perfectly reduce the levels of lipids, such as LDL, cholesterol, triglycerides, Lp(a), and sdLDL-cholesterol, and this nding is similar to the results of other studies [15].…”

“…Heparin-induced extracorporeal LDL precipitation (HELP) was proven to be capable of reducing lipid levels and the risk of CVD in patients with familial hypercholesterolemia in a previous study; however, the high costs of consumption and treatment prevented its further large-scale clinical usage. Instead, double-ltration plasmapheresis (DFPP) has recently replaced HELP in the treatment of familial hypercholesterolemia, hyperlipidaemiainduced severe acute pancreatitis, and coronary artery disease after coronary artery stenosis [15][16][17][18].…”

Plasma Purification is Associated With Reduced Inflammation Factors and Down-regulation of Lipid Metabolic and ER Stress Proteins in Patients With Hyperlipidemia

“…Our study indicates that DFPP could perfectly reduce lipid composition as LDL, cholesterol, triglyceride, Lp(a), and sdLDL-cholesterol, which is similar to other studies [15]. Its safety, easy operation and low-cost provides clinic for extensive use in decreasing markers of CVD risks.…”

“…Earlier Heparin-induced Extracorporeal LDL Precipitation (HELP) has been proved to be capable to reduce lipid and the risks of CVD in patients with familial hypercholesterolemia, however, high costs of consumable and treatment prevented its further large-scale clinic usages. Instead, double ltration plasmapheresis (DFPP) has recently replaced HELP in the treatment of familial hypercholesterolemia, hyperlipidemia-leaded severe acute pancreatitis, and coronary artery disease after coronary artery stenosis [15][16][17][18]. DFPP owns the advantages: simplicity of operator, safety for patients, low price (7000 RMB, equal to 1000 US dollars/each session, can be covered by Medicare), short treat time (3-4 hours) and without plasma or albumin replace.…”

Plasma Purification Treatment Relieves the Damage of Hyperlipidemia to PBMCs

“…Heparin-induced extracorporeal LDL precipitation (HELP) was proven to be capable of reducing lipid levels and the risk of CVD in patients with familial hypercholesterolemia in a previous study; however, the high costs of consumption and treatment prevented its further large-scale clinical usage. Instead, double-filtration plasmapheresis (DFPP) has recently replaced HELP in treating familial hypercholesterolemia, hyperlipidemiainduced severe acute pancreatitis, and coronary artery disease after coronary artery stenosis (15)(16)(17)(18). DFPP has the advantages of easy use for operators, safety for patients, a low price (7,000 RMB, equal to US$1,000/session, can be covered by Medicare), a short treatment time (3-4 h), and no plasma or albumin replacement.…”