Familial hypercholesterolemia concealed by a protein-truncating variant of PCSK9

Key Points

• Familial hypercholesterolemia was identified in individuals despite the presence of a pcsk9 variant, indicating atypical presentations.
• A specific protein-truncating variant was characterized, leading to altered cholesterol metabolism in those affected.
• Assessment involved genetic testing and lipid profile analysis to determine cholesterol levels in affected individuals.
• This highlights the importance of genetic screening for accurate diagnosis in cases of unexpected cholesterol levels.