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

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 substan...

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Autor principal: Gouni-Berthold, Ioanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7025947/
https://www.ncbi.nlm.nih.gov/pubmed/32083235
http://dx.doi.org/10.1210/jendso/bvz035
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author Gouni-Berthold, Ioanna
author_facet Gouni-Berthold, Ioanna
author_sort Gouni-Berthold, Ioanna
collection PubMed
description 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.
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spelling pubmed-70259472020-02-20 Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides Gouni-Berthold, Ioanna J Endocr Soc Case Report 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. Oxford University Press 2019-12-23 /pmc/articles/PMC7025947/ /pubmed/32083235 http://dx.doi.org/10.1210/jendso/bvz035 Text en © Endocrine Society 2019. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Gouni-Berthold, Ioanna
Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides
title Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides
title_full Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides
title_fullStr Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides
title_full_unstemmed Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides
title_short Significant Quality of Life Improvement Observed in a Patient With FCS Associated With a Marked Reduction in Triglycerides
title_sort significant quality of life improvement observed in a patient with fcs associated with a marked reduction in triglycerides
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7025947/
https://www.ncbi.nlm.nih.gov/pubmed/32083235
http://dx.doi.org/10.1210/jendso/bvz035
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