Familial hypercholesterolemia: experience from the French-Canadian population
Bibliographic record
Abstract
PURPOSE OF REVIEW: There has recently been renewed interest in the study of the various facets of familial hypercholesterolemia, a severe monogenic disease associated with elevated LDL-cholesterol and premature cardiovascular disease (CVD). In the present review, novel data presenting the frequency of familial hypercholesterolemia as well as factors modulating the cardiovascular risk in familial hypercholesterolemia will be discussed. RECENT FINDINGS: Recent studies have showed that familial hypercholesterolemia is much more prevalent than initially thought. Classically, it was estimated that familial hypercholesterolemia affected one in 500 people worldwide, but a recent large-scale meta-analysis has shown a prevalence closer to one in 250. In the French-Canadian population, this disease is even more frequent reaching one in 81 in certain regions of the Province of Quebec. Several novel studies in the French-Canadian population have shown that the clinical outcomes in familial hypercholesterolemia seem to be greatly influenced by risk factors other than LDL-cholesterol. Also, scores to predict CVD in familial hypercholesterolemia have been recently proposed. SUMMARY: Familial hypercholesterolemia is more frequent than initially thought and the phenotype of this disease can be variable. Indeed, both clinical and genetic variables can modulate the CVD risk in this population.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".