Real-World Outcomes of Lipoprotein Apheresis in Homozygous Familial Hypercholesterolemia: A Single-Center Longitudinal Experience.

Background

Lipoprotein apheresis (LA) remains an important treatment option for patients with homozygous familial hypercholesterolemia (HoFH) who have persistently severe low- density lipoprotein cholesterol (LDL-C) elevation despite intensive lipid-lowering therapy. Therapeutic plasma exchange (TPE) may serve as a temporary alternative when selective LA is unavailable.

Methods

This retrospective, single-center longitudinal observational study evaluated six patients with HoFH treated with double-filtration plasmapheresis (DFPP) between 2010 and 2023. During a temporary interruption in DFPP availability, two patients underwent TPE. Pre- and post-procedure lipid levels were evaluated using paired measurements.

Results

A total of 476 DFPP and 20 TPE procedures were performed. During DFPP, the median reductions in total cholesterol and LDL-C were 64.44% [57.14-70.21] and 67.53% [59.53-73.86], respectively, while the median reductions in high-density lipoprotein cholesterol (HDL-C) and triglycerides were 40.00% [30.63-48.00] and 48.63% [35.38-57.66]. Among TPE procedures with paired measurements, the corresponding median reductions were 71.11% [65.52-72.69] for total cholesterol, 70.97% [67.14-73.72] for LDL-C, 67.08% [62.92-70.83] for HDL-C, and 55.73% [38.68-63.33] for triglycerides. No serious adverse events were observed during DFPP. TPE was discontinued in one patient after chills and subfebrile fever.

Conclusions

Long-term DFPP was associated with substantial acute lipid reductions in patients with HoFH. TPE also produced marked acute lipid reductions in two patients when DFPP was unavailable. However, the limited number of TPE-treated patients, repeated procedures within the same individuals, and overlapping evolocumab exposure preclude conclusions regarding comparative efficacy or safety. TPE may be considered as an individualized interim option when selective lipoprotein apheresis is temporarily unavailable.