Editorial: Rare dyslipidemias
Bibliographic record
Abstract
Editorial on the Research Topic Rare dyslipidemiasRare diseases are defined in the European Union (EU) as those that affect less than 1 person in 2000; in total, between 6,000 and 8,000 different rare diseases affect an estimated 30 million people in the EU (European Commission, 2021).Rare dyslipidemias encompass a diverse group of rare inherited metabolic disorders that are either autosomal dominant, codominant, semi-dominant or recessive (Hegele et al., 2020).At least 25 different monogenic rare dyslipidemias have been identified, caused by pathogenic variants in 23 genes with varied biochemical and clinical features (Hegele et al., 2015).Owing to their complex etiology and clinical features, these diseases pose a significant challenge in diagnosis, which is generally based on the analysis of clinical phenotypes; however, genetic testing provides a definitive diagnosis (Hegele et al., 2020).Extreme deviations in lipoprotein levels particularly at a younger age and with a positive family history of the disease raise suspicion for these rare disorders (Berberich and Hegele, 2022).Rare dyslipidemias are characterized by abnormal levels of total and low-density lipoprotein (LDL) cholesterol, triglycerides (TG), lipoprotein (a) [Lp(a)], and highdensity lipoprotein (HDL) cholesterol.These disorders can have long-term lifethreatening consequences including increased risk for atherosclerotic cardiovascular disease (ASCVD), which is the leading cause of morbidity and mortality around the world.Other complications include pancreatitis, fatty liver disease, and fat-soluble vitamin deficiencies (Berberich and Hegele, 2022).The Research Topic collection on "Rare dyslipidemias" presents papers on various aspects of several related disorders, including homozygous familial hypercholesterolemia, familial chylomicronemia syndrome due to different genetic causes, hypobetalipoproteinemia, hypoalphalipoproteinemia, dysbetalipoproteinemia, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.Homozygous familial hypercholesterolemia (HoFH), marked by exceedingly high levels of LDL cholesterol (>400 mg/dL or >10 mmol/L) due to an impaired clearance of LDL particles, is a major rare dyslipidemia with estimated prevalence of 1 in 300,000 individuals (Berberich and Hegele, 2022;Tromp et al., 2022;Cuchel et al., 2023).It is caused by bi-allelic pathogenic variants in the LDLR gene encoding LDL receptor in 85%-90% of cases, in the APOB gene encoding apolipoprotein (apo) B in 5%-10% of cases and in the PCSK9 gene encoding proprotein convertase subtilisin/kexin type 9 in 1%-3% of cases.Clinical features
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.004 | 0.016 |
| Meta-epidemiology (narrow) | 0.004 | 0.001 |
| Meta-epidemiology (broad) | 0.003 | 0.003 |
| Bibliometrics | 0.004 | 0.001 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.005 | 0.003 |
| Open science | 0.003 | 0.001 |
| Research integrity | 0.010 | 0.013 |
| Insufficient payload (model declined to judge) | 0.041 | 0.033 |
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 source (direct Gemma or distilled Codex), 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".