Lipids & metabolic liver disease
Comparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome
Authors' 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.
Study context
- Population
- Patients with severe hypertriglyceridemia (plasma TG ≥10 mmol/L [≥885 mg/dL]), classified as familial chylomicronemia syndrome (FCS) or multifactorial chylomicronemia syndrome (MCS) by targeted sequencing
- Participants
- 193 patients
- Exposure
- FCS vs MCS
- Outcome
- Age
Methodological detailstargeted DNA sequencing, genotypically characterized
- Targeted DNA sequencing
- Genotypically characterized
Main finding
As reported in the abstract
P = 0.003
Observational data: associations, not effects.
Further findings
Age at symptom onset · earlier with FCS
P = 0.00066
BMI · lower with FCS
P = 0.000016
Prevalence of pancreatitis events · higher with FCS
P = 0.003
Plasma apolipoprotein B · lower with FCS
P < 0.0001
| Outcome | FCS | MCS | P value |
|---|---|---|---|
| TG to total cholesterol ratioHigher with FCS | 4.18 ± 0.92 | 1.08 ± 0.51 | P < 0.0001 |
Clinical presentation in MCS genetic subgroups
- MCS with heterozygous pathogenic variants had a relatively more severe clinical presentation than other MCS genetic subgroups
Original publication
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