Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation
المؤلفون المشاركون
Remaley, Alan T.
Ueda, Masako
Wolska, Anna
Burke, Frances M.
Escobar, Maria
Walters, Laura
Lalic, Dusanka
Hegele, Robert A.
Rader, Daniel J.
Dunbar, Richard L.
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-03-30
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Background.
Among many causes of hypertriglyceridemia (HTG), familial chylomicronemia syndrome (FCS) is a rare monogenic disorder that manifests as severe HTG and acute pancreatitis.
Among the known causal genes for FCS, mutations in APOC2 only account for <2% of cases.
Medical nutrition therapy is critical for FCS because usual triglyceride- (TG-) lowering medications are ineffective.
Therapeutic plasma exchange (TPE) with fresh frozen plasma (FFP) is an option to urgently reduce TG and pancreatitis episodes.
Several novel biologics are under development to treat HTG and may provide therapeutic options for FCS in the future.
Objective.
We present the challenging care of a 43-year-old man with FCS with apoC-II deficiency and the results of two types of TPE and of investigational TG-lowering biologic therapies.
Results.
The patient’s lipid profile was consistent with FCS.
A novel homozygous variant was identified in APOC2, and its pathogenicity was confirmed.
Even on a fat-restricted diet, his care was tremendously complicated with unremitting bouts of pancreatitis.
TPE with FFP replacement lowered TG >90% post-sessions and appeared to reduce pancreatitis episodes.
Experimental ANGPTL3 and APOC3 inhibitors each lowered TG by >50%.
Conclusions.
Our case demonstrates the importance of delineating and defining the underlying etiology of a rare disorder to optimize therapy and to minimize unfavorable outcomes.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Ueda, Masako& Wolska, Anna& Burke, Frances M.& Escobar, Maria& Walters, Laura& Lalic, Dusanka…[et al.]. 2020. Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation. Case Reports in Endocrinology،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1146966
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Ueda, Masako…[et al.]. Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation. Case Reports in Endocrinology No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1146966
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Ueda, Masako& Wolska, Anna& Burke, Frances M.& Escobar, Maria& Walters, Laura& Lalic, Dusanka…[et al.]. Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation. Case Reports in Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1146966
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1146966
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر