Multimodal Therapy Achieves Secondary Prevention LDL-C Targets in LDL-Receptor Null Homozygous Familial Hypercholesterolemia
Bibliographic record
Abstract
BACKGROUND: Homozygous familial hypercholesterolemia is a rare condition most commonly associated with pathogenic variants in the LDLR gene that leads to mortality before age 20 if not treated. CASE SUMMARY: A 4-year-old boy of Lebanese origin with multiple skin xanthomas was found to have untreated low-density lipoprotein cholesterol (LDL-C) of 1005 mg/dL (26 mM). Gene analysis revealed biallelic identical LDLR variants with <2% residual LDLR activity (LDLR-null). DISCUSSION: With combination therapy including maximum dose rosuvastatin, ezetimibe, plasma exchange, lomitapide, and evinacumab, guideline-recommended LDL-C of <70 mg/dL (1.8 mM) was achieved for secondary prevention of coronary disease. With this combined treatment, there has been no progression of his premature coronary heart disease. TAKE-HOME MESSAGES: Effective treatment of homozygous familial hypercholesterolemia requires multimodal lipid-lowering therapies. With currently available treatments it is possible to achieve previously unattainable lowering of LDL-C to prevent vascular disease and the need for liver transplantation.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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) | 0.001 | 0.000 |
| 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 | 0.000 | 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".