ArticleJCEM case reports2026
Lipoprotein lipase deficiency presenting with gastrointestinal bleeding and compensated shock.
Article in JCEM case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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4 authors.
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Abstract
Lipoprotein lipase (LPL) deficiency is an autosomal recessive disorder causing hypertriglyceridemia. Presentations are heterogenous and there are no standardized acute treatment protocols. Long-term management consists of strict dietary control. We report a case of LPL deficiency in an infant presenting with gastrointestinal bleeding and compensated shock, with a more severe presentation than previously published cases. Preliminary diagnosis was based on lipemic blood appearance. Intensive care resuscitation was required. Triglyceride levels peaked above 200 times the upper limit of normal. Insulin infusion provided no benefit. A whole-blood exchange transfusion led to a sustained reduction in triglyceride levels. Diagnosis was confirmed by genetic testing. Despite the magnitude of hypertriglyceridemia, there were minimal end-organ sequelae. The necessity of invasive management of severe hypertriglyceridemia is not established. This case highlights the range of presentations in inherited metabolic disease, and the limited evidence for acute management strategies.
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