Monogenic Familial Chylomicronemia Syndrome in Children: Clinical Divergences and Management Paradigms

Figure 1. Clinical skin manifestations of the 21-month-old female patient (Case 1). Multiple discrete, non-confluent vesiculopapular lesions distributed over the trunk, lower limbs, and dorsal aspects of the hand, mimicking an infectious papulovesicular exanthem but representing atypical eruptive xanthomas (as indicated by yellow arrows).

Figure 2. Visual presentation of a routine centrifuged whole blood sample from Case 1. The specimen demonstrates profound macroscopic lipemia, exhibiting a characteristically dense, thick milky supernatant layer resembling strawberry cream.

Figure 3. Longitudinal biochemical trend lines demonstrating serum triglyceride (TG) levels in mmol/L over hours following the clinical initiation of a continuous intravenous insulin infusion in the pediatric intensive care unit (Case 1). Rapid clearance of chylomicrons is achieved within 14 hours.

Figure 4. Multi-generational family pedigree of Case 1. Confirmed consanguinity is noted within parental lineages. The index female pediatric patient and her similarly affected male maternal cousin are indicated by the grey diagonal hatching, illustrating a classic autosomal recessive inheritance pattern.

Figure 5. Serial serum triglyceride levels and corresponding interventions in Case 1

Figure 6. Weight-for-age percentiles of the female patient in Case 2 tracking from birth to age 13 years (Hong Kong Growth Study 2020). Weight-for-age percentiles demonstrate continuous, robust development progressing stably along the 75th percentile on restricted dietary fat modification [6].