Homozygous familial hypercholesterolemia (FH) is a rare genetic condition (1 in a million) characterized by extremely high LDL cholesterol (e.g., ~780 mg/dL), leading to xanthomas and early cardiovascular events like stable angina at age three and myocardial infarction at age six.

“she had extremely high levels of total in LDL cholesterol her LDL cholesterol was around uh 780 I think something in the neighborhood uh she developed xanthomas which are cholesterol deposits on her extremities like her knees I think you can sometimes see it on hands and the ankles things like that and a an angina a stable angina at age three and she had her first heart attack at age six myocardial infarction”