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Annotated abstract

Severe hypertriglyceridemia due to lipoprotein lipase deficiency in an infant: pharmacological and nutritional approach

ejhpharm · 2026-04-22 · canonical JSON source

5 visible annotations · policy: published · automated confidence ≥ 75.00%

Document resource

This case describes the individualised pharmacological management of a 2-month-old infant with genetically confirmed type I hypertriglyceridemia due to lipoprotein lipase (LPL) deficiency. After the failure of conventional treatment and contraindication to plasmapheresis, intravenous insulin therapy was initiated, followed by subcutaneous insulin and omega-3 fatty acid adjustment. The hospital pharmacist played a key role in selecting off-label treatments, adapting pharmaceutical forms for paediatric use and performing therapeutic reconciliation. The approach was effective and safe, achieving triglyceride levels below 1000 mg/dL and clinical stability. This report contributes practical evidence on alternative treatment strategies for a rare disease with limited therapeutic options in paediatrics, highlighting the importance of a multidisciplinary approach and pharmaceutical care.