Fresh frozen plasma as functional replacement therapy in early infantile ApoC-II deficiency: a molecularly confirmed case series.
Nurcan Üçüncü Ergun, Merve Aslantaş
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Case in brief
Three male infants from consanguineous families presented with extreme hypertriglyceridemia, with levels ranging from 3,228 to 5,802 mg/dL, due to homozygous APOC2 c.55+1G>C pathogenic variant. Initial dietary management was inadequate, but administration of fresh frozen plasma (FFP) led to a significant reduction in triglyceride levels, resolving symptoms such as lactescent serum and eruptive xanthomas.
Diagnostic / clinical pearl
Fresh frozen plasma can serve as a temporary functional replacement therapy in infants with ApoC-II deficiency, facilitating rapid metabolic stabilization.
Why it matters
Timely recognition and intervention in ApoC-II deficiency are crucial to prevent serious complications while establishing long-term dietary management.