Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides

doi:10.1210/jendso/bvz035

Paper

Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides

Published Dec 23, 2019 · I. Gouni-Berthold

Journal of the Endocrine Society

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Abstract

Abstract Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by severely high triglycerides (TGs). It is associated with a marked increase in risk of recurrent, potentially fatal acute pancreatitis (AP), and symptoms including abdominal pain, fatigue, and anxiety that may substantially reduce quality of life (QoL). A 46-year-old woman with FCS and severely high TGs initially presented with necrotizing pancreatitis with pseudocysts, having previously experienced recurrent AP. The patient reported constant abdominal pain and fatigue, which were evident in her demeanor. Initial management included maximum doses of omega-3 fatty acids and fibrates, plus an extremely restricted diet (reduced intake: calories, fats, simple sugars; no alcohol). Despite adherence to all management strategies, TGs remained at approximately 2800 mg/dL (31.6 mmol/L) and symptoms persisted. The patient was enrolled in COMPASS, a phase 3, placebo-controlled trial to evaluate the effect of an investigational drug, volanesorsen, on fasting TGs in patients with hypertriglyceridemia (fasting TGs ≥ 500 mg/dL [≥5.7 mmol/L]). The woman, a confirmed FCS patient, continued into the open-label extension study, during which fasting TGs decreased to 146 mg/dL (1.7 mmol/L) following 4 months of treatment. The restrictive diet was maintained throughout treatment and no serious adverse events were reported. Along with sustained TG reduction, the patient experienced progressive, perceived improvements in observable QoL measures and a marked reduction in symptom severity and frequency. In a patient with FCS, reduction in TGs following volanesorsen therapy appeared to be associated with marked improvement in clinical symptoms and observed QoL.

Case Report

Rigorous Journal

Study Snapshot

Volanesorsen therapy significantly reduced triglycerides in a patient with familial chylomicronemia syndrome, leading to significant improvements in quality of life and symptom severity.

PopulationOlder adults (50-71 years)

Sample size24

MethodsObservational

OutcomesBody Mass Index projections

ResultsSocial networks mitigate obesity in older groups.

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Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides

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References

The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study.

Patients with familial chylomicronemia syndrome experience significant clinical and psychosocial burdens, reducing their quality of life and limiting employment and social interactions.

Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span.

This report provides comprehensive dietary guidelines for patients with familial chylomicronemia syndrome, recommending limiting fat, meeting essential fatty acid recommendations, and focusing on complex carbohydrates, vitamins, minerals, and weight management.

The burden of familial chylomicronemia syndrome from the patients’ perspective

Living with familial chylomicronemia syndrome (FCS) imposes a significant clinical and psychosocial burden on patients and caregivers, reducing quality of life, limiting employment opportunities, socialization, and increasing family burden.

The supportive care needs of parents caring for a child with a rare disease: A scoping review.

Parents with a child with a rare disease have significant unmet needs, particularly in social, informational, and emotional areas.

Chylomicronaemia—current diagnosis and future therapies

Emerging therapies like LPL gene therapy and inhibition of microsomal triglyceride transfer protein may provide better treatment for chylomicronaemia than existing treatments.

Targeting APOC3 in the familial chylomicronemia syndrome.

Targeting APOC3 in familial chylomicronemia syndrome patients with high triglyceride levels can effectively reduce triglyceride levels and improve overall health.

Diagnostic algorithm for familial chylomicronemia syndrome.

This diagnostic algorithm, developed by a multidisciplinary board of experts, can help practitioners recognize signs and clinical manifestations in individuals potentially affected by familial chylomicronemia syndrome.

Citations

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