NewsJOURNAL OF CLINICAL LIPIDOLOGYSunday, April 19, 2026 · 6 days ago
A case of presumed homozygous familial hypercholesterolemia.
WHY IT MATTERS
Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
We present a case of a young adult diagnosed with homozygous familial hypercholesterolemia despite a normal lipid panel. A deeper dive into the details of the genotype resulted in recharacterization of the genetic diagnosis. The observed phenotype-genotype discordance reflects the importan...
Related conditions
Related news
Int J Circumpolar Health · -250 days ago
A population-based legacy study of myasthenia gravis in Iceland: insights from a small Arctic nation
Published in Int J Circumpolar Health. Hjaltason H et al.…
Ther Adv Rare Dis · -220 days ago
Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy
Published in Ther Adv Rare Dis. Mitha A et al.…
Health Inf Sci Syst · -220 days ago
PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy
Published in Health Inf Sci Syst. Zhai W et al.…
Mol Ther Nucleic Acids · -52 days ago
The post-pandemic pivot: mRNA therapeutics enter the chronic rare disease arena
Published in Mol Ther Nucleic Acids. Giangrande PH et al.…