Comparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome
Bibliographic record
Abstract
CONTEXT: Patients with rare familial chylomicronemia syndrome (FCS) and relatively common multifactorial chylomicronemia syndrome (MCS) both express severe hypertriglyceridemia, defined as plasma triglyceride concentration ≥10 mmol/L (≥885 mg/dL). Clinically there can be confusion between the 2 conditions. OBJECTIVE: To compare clinical and biochemical phenotypes in patients with genotypically characterized FCS and MCS. METHODS: We performed targeted sequencing of DNA from 193 patients with severe hypertriglyceridemia, classified them as having either FCS or MCS, and compared clinical and biochemical characteristics. RESULTS: Patients with FCS were significantly younger than patients with MCS (31.4 ± 16.7 vs 51.0 ± 11.3 years; P = .003), with earlier age at symptom onset (15.0 ± 15.8 vs 37.8 ± 8.8 years; P = .00066), lower body mass index (23.3 ± 3.1 vs 30.7 ± 5.0 kg/m2; P = .000016), and higher prevalence of pancreatitis events (81.8% vs 35.2%; P = .003). Furthermore, patients with FCS had a higher ratio of triglyceride to total cholesterol (ie, 4.18 ± 0.92 vs 1.08 ± 0.51; P < .0001) and lower plasma apolipoprotein B (ie, 0.56 ± 0.15 vs 1.02 ± 0.43 g/L; P < .0001) than patients with MCS. Patients with MCS with heterozygous pathogenic variants had a relatively more severe clinical presentation than other MCS genetic subgroups. CONCLUSION: Patients with FCS have notable phenotypic differences from patients with MCS, although there is overlap. While genetic analysis of patients with persistent severe hypertriglyceridemia can definitively diagnose FCS, 8.8% of patients with MCS with sustained refractory hypertriglyceridemia behave functionally as if they have FCS, which should influence their eligibility for novel therapies for severe hypertriglyceridemia.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.002 |
| 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".