Double filtration plasmapheresis offers hope for severe HoFH case

Double filtration plasmapheresis (DFPP) can be an effective adjunctive therapy for managing severe, treatment-resistant cases of homozygous familial hypercholesterolemia (HoFH), significantly lowering LDL cholesterol and delaying cardiovascular disease progression, according to a new review and case report.

The recent case highlights the benefits of DFPP in managing a 36-year-old woman with HoFH. She presented with xanthomas on her limbs and waist at age 7 and, despite aggressive treatment—including statins, ezetimibe, and evolocumab—her LDL cholesterol levels remained critically high at 12-14 mmol/L. Genetic testing confirmed a homozygous LDLR mutation. At age 35, she developed chest pain, leading to the discovery of severe coronary artery disease requiring stent placement.

The patient began DFPP therapy every 1-2 months, which lowered her LDL-C levels from 13.82 mmol/L to 2.43 mmol/L—a reduction of over 80%. Total cholesterol, lipoprotein(a), and triglycerides also decreased significantly. After 2 years, her coronary disease showed no further progression, and her symptoms and xanthomas improved.

This case underscores the potential of DFPP as a powerful adjunctive therapy for HoFH, helping reduce cholesterol levels when conventional treatments fail and slowing the progression of ASCVD.

Reference
Guan M, Wang H, Wang F, et al. Lipoprotein apheresis: an established therapeutic modality for homozygous familial hypercholesterolemia patients refractory to PCSK9 inhibitors: a case report and literature review. Thromb J. 2024;22(1):85. doi: 10.1186/s12959-024-00657-w. PMID: 39363287; PMCID: PMC11447989.