Dear Dr. Roach: I am a 69-year-old woman who was diagnosed with familial hypercholesterolemia (FH ... for abnormalities in the gene for the LDL receptor. But it can also be inferred by family ...

Lipid metabolism in homozygous familial hypercholesterolemia (HoFH) is abnormal owing to lack of functional LDL receptors, although residual receptor function between 2 and 25% is present in the ...

Dear Dr. Roach: I am a 69-year-old woman who was diagnosed with familial hypercholesterolemia (FH ... for abnormalities in the gene for the LDL receptor. But it can also be inferred by family ...

Familial Hypercholesterolemia "The justly celebrated unraveling of the LDL receptor pathway revealed that mutations in a ...

The three key mutations are in the gene for the LDL cholesterol receptor that is supposed to ... which is called heterozygous FH (HeFH). The rare homozygous form of FH (HoFH) from inheriting ...

which in turn upregulates low-density lipoprotein (LDL) receptors, lowering LDL cholesterol (LDL-C) levels in the blood. [Robinson JG. Clinical Lipid Management;444a] Ezetimibe also lowers non-HDL ...

"Lerodalcibep has demonstrated robust and sustained long-term LDL cholesterol-lowering ... and to the 30 million individuals with familial hypercholesterolemia (FH) around the world, who require ...

Familial hypercholesterolemia results from gene mutations approximately halving the number of functional LDL receptors in heterozygotes and a greater lack in homozygotes. Reduced receptor-mediated ...

E.L. ANSWER: FH is a genetic condition of very high cholesterol levels that presents a high risk for coronary artery disease. The diagnosis can be made by genetic testing and looking for abnormalities ...