Key result
Mutations in the LPL gene causing partial LPL deficiency were identified in three of four new patients with pregnancy-induced chylomicronemia, suggesting a frequent pathogenic role.
Population
n=5 patients (4 new, 1 previously reported) with pregnancy-induced chylomicronemia
Design
Case_series
Authors
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Partial LPL deficiency may trigger severe chylomicronemia in pregnancy via remnant uptake defects; leaves open targeted monitoring strategies.
Case Report (n=4)
Mutations in the LPL gene causing partial LPL deficiency, often combined with the apoE2 isoform, may be a frequent factor in the pathogenesis of pregnancy-induced chylomicronemia.
Ma et al. (1994) conducted a case report in Pregnancy-induced chylomicronemia (n=4). Lipoprotein lipase (LPL) gene mutations was evaluated on LPL activity and triglyceride levels. Mutations in the LPL gene causing partial LPL deficiency were identified in three of four new patients with pregnancy-induced chylomicronemia, suggesting a frequent pathogenic role.
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