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

Area of Science:

• Biochemistry
• Pediatric Endocrinology
• Pharmacology

Background:

• Type I hypertriglyceridemia, caused by lipoprotein lipase (LPL) deficiency, is a rare genetic disorder.
• Infants with LPL deficiency face severe health risks due to extremely high triglyceride levels.
• Conventional treatments and plasmapheresis may be ineffective or contraindicated in pediatric cases.

Purpose of the Study:

• To describe the individualized pharmacological management of a pediatric patient with LPL deficiency.
• To highlight alternative treatment strategies when standard therapies fail.
• To emphasize the role of pharmaceutical care in managing rare pediatric diseases.

Main Methods:

• Pharmacological management initiated with intravenous insulin, followed by subcutaneous insulin and omega-3 fatty acid adjustments.
• Off-label drug selection and formulation adaptation for pediatric use by a hospital pharmacist.
• Therapeutic reconciliation and multidisciplinary care approach.

Main Results:

• Achieved safe and effective triglyceride level reduction below 1000 mg/dL.
• Maintained clinical stability in the infant patient.
• Demonstrated successful use of insulin and omega-3 fatty acids as alternative therapies.

Conclusions:

• Individualized insulin therapy and omega-3 fatty acids offer a viable alternative for pediatric LPL deficiency.
• Multidisciplinary collaboration, particularly involving hospital pharmacists, is crucial for managing rare pediatric metabolic disorders.
• This case provides practical evidence for alternative treatment strategies in a condition with limited pediatric therapeutic options.