Unusual blood test

Sharlayne Tracy* boasts an exceptionally low LDL cholesterol level of just 14 milligrams per deciliter, significantly below the typical level of around 100 milligrams per deciliter found in healthy individuals. Initially, her doctor suspected a laboratory error due to the astonishingly low result. Subsequent tests showed the results were indeed accurate.

The reason behind Tracy's remarkably low LDL was discovered to be a genetic one: she has mutations in both copies of her PCSK9 gene. This gene normally regulates LDL cholesterol levels, and mutations here can result in lower LDL. While approximately 2 percent of African Americans have a single mutated PCSK9 gene, Tracy's case is extraordinary because she has no active PCSK9 gene at all. Her unique genetic makeup has provided crucial insights for the development of therapies for heart disease.

Comprehensive medical evaluations showed Tracy was healthy overall, suggesting that a drug that turns off PCSK9 could offer a safe way to lower cholesterol without harmful side effects. This insight inspired the creation of new medications, called PCSK9 inhibitors, that replicate the cholesterol-lowering effects of her gene mutations.

*Note: 'Sharlayne Tracy' is a pseudonym used to protect the identity of the individual, who prefers to remain anonymous.