Key result
Plasma exchange and dietary modification successfully resolve severe hematochezia in infantile familial chylomicronemia syndrome.
Why the study?
Familial chylomicronemia syndrome is a rare genetic disorder with limited published literature, and diagnosis and treatment, especially in infants, remain challenging.
Case Report (n=1)
No
Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase (LPL) or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicron levels. We report two siblings with this rare disorder and review the literature.
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Sugandhan et al. (2007) conducted a case report in Familial chylomicronemia syndrome (n=1). Plasma exchange was evaluated on Clinical improvement and resolution of symptoms. Plasma exchange and dietary modification successfully resolved severe hematochezia and improved the clinical condition of a 1-month-old infant with familial chylomicronemia syndrome driven by a novel LPL mutation.
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