Familial Hypercholesterolemia Awareness Day Monday 24 September

Familial Hypercholesterolemia (FH) is an hereditary disease which, despite being treatable, is vastly underdiagnosed. Individuals with FH have a reduced ability to remove LDL-cholesterol from the blood, and an increased risk of heart disease, stroke, and potentially fatal cardiac events.

September 24^th is FH Awareness Day, where the aim is to raise awareness and understanding of Familial Hypercholesterolemia, the role it plays in heart disease, stroke and cardiac arrest. This is particularly important because in public perception, these cholesterol levels are often linked lifestyle choices, without a good understanding of the hereditary genetics that can lead to individual susceptibility.

The importance of genetic cascade screening for FH, that is testing of family members of patients known to be affected by FH, has been highlighted in among others a recent paper in “Clinical Genetic Testing for Familial Hypercholesterolemia” (Sturm et al). It has been shown that early detection and treatment of FH is very effective in preventing premature cardiovascular disease and death. This is discussed in greater detail in the whitepaper “Familial Hypercholesterolemia: Genetic Diagnosis and Cascade Testing Using NGS” by researchers Benedek and Duvefelt at Karolinska University Hospital, Sweden.

Devyser has recently launched an updated version of their NGS based test for Familial Hypercholesterolemia. This user-friendly, one-tube assay allows for detection of variants in 6 genes; LDLR, APOB, PCSK9, APOE, STAP1 and LDLRAP1 as well as polygenic SNPs and SNPs related to statin treatment.