JACC Case Rep. 2025 Dec 10:106407. doi: 10.1016/j.jaccas.2025.106407. Online ahead of print.
ABSTRACT
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is challenging to treat, requiring intensive lipid-lowering therapy often with novel therapies like evinacumab (angiopoietin-like 3 (ANGPLT3) inhibitor) and procedures like lipoprotein apheresis or therapeutic plasma exchange.
CASE SUMMARY: A 47-year-old woman with HoFH and recurrent atherosclerotic cardiovascular disease events presented with intolerance to multiple lipid-lowering therapies and lipoprotein apheresis. She was treated with therapeutic plasma exchange and maximally-tolerated pharmacotherapies, including evinacumab. Treatment was successful but required medical flights every 2 weeks and premedication to prevent anaphylactoid-like reactions.
DISCUSSION: Novel therapies like evinacumab and less-frequently used treatments like therapeutic plasma exchange are important options for patients with HoFH experiencing intolerance to standard lipid-lowering therapies. Premedications can be used to manage allergic and allergy-like reactions.
TAKE-HOME MESSAGES: Persistence and use of combination therapies are required in treating HoFH, especially when patients experience intolerance to commonly used treatments. Premedications can prevent allergic and allergy-like reactions to therapies in HoFH.
PMID:41369603 | DOI:10.1016/j.jaccas.2025.106407