June 19, 2018Lipids in Health and DiseaseOpen Access

Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis

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Structured PICO

Population

A Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis (onset at age 26, over 30 years duration, 3 bouts of acute pancreatitis) and his family.

Intervention

Genetic testing (Sanger sequencing of LPL, GPIHBP1, APOA5, APOC2, and LMF1 genes) and post-heparin LPL mass and activity detection.

Outcome

Identification of genetic mutations causing severe hypertriglyceridemia.surrogate

The identification of compound but dislinked heterozygous LPL mutations p.W14X and p.L279V expands the known genetic spectrum of severe hypertriglyceridemia.

Discussion

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Implication

Broadens known LPL variants in severe hypertriglyceridemia; leaves open causality and testing implications pending larger studies.

Cite This Study

Li et al. (2018) studied this question.

synapsesocial.com/papers/6a82c2e46a677a72e121da2f https://doi.org/10.1186/s12944-018-0789-2

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Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis

Structured PICO

Discussion

Implication

Cite This Study

Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider