Encouraging appropriate treatment for familial hypercholesterolemia

Molecular Biology of Atherosclerosis

“…Of the 29 with CAD, 23 died of CAD at a mean age of 52, while pedigree members without early CAD had a mean age of death of 81 (1134). This is similar to or even greater than the 10-to 20-fold excess CAD risk seen with untreated heterozygous FH (781). LRP6 R611C also failed to facilitate Wnt signaling in VSMC, although these results could not explain the excessive proliferation seen in vivo and in response to PDGF (896).…”

Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

“…Average, untreated LDL cholesterol levels are about 220 mg/dL in those with FH and serum total cholesterol levels are often in the range of 350-550 mg/dL; the risk of premature CHD is elevated about 20-fold without treatment. 10,24 The excess risk for CHD has been estimated to be as high as 100-fold in untreated young men with FH. 23 The CHD risk in women with FH is lower than in FH men, and CHD development usually occurs about ten years later in women compared to men.…”

“…[1][2][3][4][5][6][7][8][9] Too often, FH is diagnosed after the occurrence of a major coronary event; hence a population-based approach to identify affected individuals prior to the discovery of atherosclerosis is clearly warranted. 10 Implementation of appropriate screening can lead to early detection, diagnosis, and treatment of FH and makes a huge impact on the prevention of CHD and related detrimental sequelae. 11,12 Definition of Familial Hypercholesterolemias…”

Defining the challenges of familial hypercholesterolemia screening: Introduction

“…All the systems yield ''definite'' and ''probable'' or ''possible'' diagnostic categories. 2,6 It should be noted that LDL-C levels in FH are generally greater than the population 95th percentile, but specific cut points must vary with average LDL-C levels in a given population. In developing the MEDPED criteria, a formal sensitivity/specificity analysis was not used.…”

“…11 Once the mutation is known for a family, comparisons of DNA diagnosis with various LDL-C cut points generally show sensitivities and specificities for LDL-based diagnosis ranging from lows of 60% to as high as 95%. 2 None of these considerations address who pays for such mutation screening in a public health effort. In the Netherlands, government-supported DNA diagnosis is the norm.…”