Another important International Lipid Expert Panel (ILEP) #metaanalysis on #therapy for homozygous familial #hypercholesterolemia (#HoFH) has just been published in #Drugs (IF = 14.4) by Springer Nature. Excellent work by Prof. Ibadete Bytyçi — ILEP’s Statistical Lead — and the Kosovo team!
This is crucial because HoFH remains severely underdiagnosed and is often identified too late, leaving many patients treated ineffectively. This rare condition has an estimated #prevalence of 1 in 160,000 to 360,000 individuals worldwide (the number of HoFH patients may be as high as ~40,000, with only a small percentage diagnosed).
Affected individuals can have very high #LDLC from birth and develop early #ASCVD; therefore rapid diagnosis and effective #treatment are critical.
The meta-analysis shows we have effective therapies beyond established treatments such as #statins, #ezetimibe, #lomitapide, #mipomersen (depending on #LDLR functionality), and #lipid hasztag#apheresis — and also newer options targeting #PCSK9 and #ANGPTL3. Unfortunately, access to these newer drugs is severely limited in many countries because of cost and is often restricted to specific #drug #programs (for example, Poland’s drug program B101). Achieving LDL-C #targets in HoFH commonly requires intensive #combination lipid-lowering therapy #LLT (3–5 agents), sometimes plus lipid apheresis.
Our meta-analysis of 12 #trials including nearly 400 HoFH patients (median follow-up 12 months) showed that ANGPTL3 #inhibitors produced greater reductions in LDL-C (−50.77 vs −17.88%; p for subgroup < 0.001) and #ApoB (−26.9 vs −13.2%; p for subgroup < 0.001) compared with PCSK9 inhibitors, with similar reductions in Lp(a) between groups. In meta-regression, ANGPTL3 inhibitors produced a larger LDL-C reduction in patients with null LDLR #genotypes (−34.5%; p = 0.04) and showed a trend toward significance in defective LDLR genotypes (−23.1%; p = 0.07), with no significant difference in heterozygous genotypes.
Full-text view-only version: https://rdcu.be/eX2wP
Michael Henein Sefer Bytyqi Adrian V. Hernandez, MD, PhD Shpend Elezi Rozafa Koliqi FH-EARLY FH Europe Foundation PERFECTO – FH FH Foundation
