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Familial hypertriglyceridemia.

Milind S Tullu¹, Asmita V Advirkar, Radha G Ghildiyal

¹Department of Pediatrics, T.N. Medical College & BYL Nair Hospital, Mumbai Central, Mumbai, India. milindtullu@vsnl.net

Indian Journal of Pediatrics

|December 6, 2008

Summary

Familial hypertriglyceridemia (FHTG), a rare genetic lipid disorder, was incidentally diagnosed in an 8-month-old boy presenting with lipemic serum. Despite elevated triglycerides, the infant showed no symptoms of FHTG.

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Area of Science:

Pediatrics
Genetics
Metabolic Disorders

Background:

Familial hypertriglyceridemia (FHTG) is a rare genetic dyslipidemia characterized by elevated serum triglycerides.
It typically presents without significant hypercholesterolemia and rarely manifests in early childhood.

Observation:

An eight-month-old boy was admitted for malaria and anemia.
Incidental laboratory findings revealed lipemic serum during his admission.

Findings:

The infant was diagnosed with FHTG, exhibiting elevated serum triglycerides.
Serum cholesterol levels were normal, and the patient displayed no clinical symptoms of FHTG.

Implications:

This case highlights the potential for incidental diagnosis of FHTG in infants presenting with unrelated conditions.
Early identification of genetic dyslipidemias like FHTG is crucial, even in asymptomatic children.
Further research into pediatric dyslipidemia presentations and genetic screening is warranted.