A 21-year-old female presented to the department of dermatology with chief complaints of gradually progressive yellowish lesions which started around 14-15 years back, first started around eyes and then progressed to neck, hands, arms and legs. The family history revealed the presence of similar symptoms in her elder brother (died 6 years back because of sudden myocardial infarction) and maternal uncle's son. On clinical examination, multiple cutaneous lesions were present including planar xanthomas, tuberous xanthomas, xanthelasma, and corneal arcus [Figure 1]. She was first provisionally diagnosed with hypercholesterolemia at the age of 15 years and was put on lipid-lowering drug statins (5 mg daily) for 1 year and later the dose was escalated to 40 mg daily. At our hospital, she was admitted for radiofrequency ablation and biopsy of the cutaneous lesion in the cubital fossa under department of dermatology. She was further referred for cardiology consultation and her blood investigations were ordered. All her laboratory parameters including complete blood count, serum electrolytes, renal function tests, blood glucose, and liver function tests were normal except lipid profile. Her total serum cholesterol and LDL-C were 717.2 mg/dl and 690.6 mg/dl, respectively. Her treadmill test was positive for inducible myocardial ischemia, and the computed tomography angiogram revealed triple-vessel disease with 100% occlusion of the right coronary artery.
Immediately, treatment was started with 80 mg atorvastatin along with other drugs such as ecosprin, clopidogrel, metoprolol, and nitroglycerin. The department of transfusion medicine was contacted for LDL apheresis in view of coronary involvement and high serum cholesterol levels.
A cascade filtration (CF) plasmapheresis was performed using plasma fractionator (Evaflux 5A20, Kawasumi Laboratories Inc.) with cell separator (COBE Spectra, Terumo Penpol) to withdraw plasma [Figures 2 and 3]. Glicher's rule of five was used for calculation of total blood volume (TBV), and total plasma volume (TPV) was calculated as TBV x (1-hematocrit). As the patient weighed 37 kg, her TBV and TPV were 2405 ml and 1527 ml, respectively. The right femoral vein was used as venous access for procedure using double-lumen femoral catheter. The inlet blood flow rate was kept between 35 and 37.7 ml/min during the procedure. Acid citrate dextrose-A was used as an anticoagulant at a ratio of 1:14, and no replacement fluid was used during the procedure as her own plasma was being returned after getting treated through the fractionator column. The procedure was uneventful till the processing of 1.2 plasma volume (1882 ml), when the patient's blood pressure dropped to 70/50 mmHg. The procedure was then halted, normal saline bolus was given, and the procedure was ended with rinseback and the patient was shifted to ward in stable condition. The postprocedural total cholesterol and LDL-C levels were 211 mg/dl and 156 mg/dl, respectively [Figure 4]. Because of financial constraints, the patient could not return for further procedures and enrolled in a free cardiac drug trial. The lipid profile post 12 weeks of drug trial therapy showed raised total serum cholesterol and LDL-C (553 mg/dl and 500 mg/dl, respectively).