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2023, Number 6

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Rev Mex Pediatr 2023; 90 (6)

Familial chylomicronemia in a two-month-old infant

Camacho-Contreras KA, Zárate-Vergara AC, Cuadros-Mendoza C, Becerra-Riaño KL, Tirado-Pérez IS

Language: Spanish
References: 18
Page: 236-239
PDF size: 385.19 Kb.


ABSTRACT

Introduction: familial chylomicronemia (FCM) is a genetic metabolic disorder, characterized by elevated lipid levels. Objective: we present a patient with FCM, without a family history of this condition. Clinical case: 2-months-old infant seen for diarrheal stools, but during blood sampling for laboratory studies, the serum was identified as milky in appearance. Lipid analysis showed extreme hypertriglyceridemia (>14,000 mg/dL). Genetic testing confirmed familial lipoprotein lipase deficiency, secondary to two heterozygous pathogenic variants (LPL (NM_000237.3): c.127dup; p. Leu43ProfsTer5 and LPL (NM_000237.3): c.1136del; p. Thr379IlefsTer14). The patient was managed with plasmapheresis and a special diet, obtaining a good therapeutic response. Conclusions: FCM is a rare condition that impairs the ability to metabolize triglycerides and can cause potentially life-threatening complications. Its early recognition and treatment is important to prevent complications.


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