Exchange transfusions for extreme hypertriglyceridemia in a 7-week-old infant with multi-organ failure

被引:10
作者
Ghoor, Samira [1 ]
Berlyn, Peter [2 ]
Brey, Naeem [3 ,4 ]
机构
[1] SAMRC, Cape Town, South Africa
[2] Mediclinic, Kimberley, South Africa
[3] Tygerberg Hosp, Dept Med, Div Neurol, Cape Town, South Africa
[4] Stellenbosch Univ, Cape Town, South Africa
关键词
Lipoprotein lipase; Severe hypertriglyceridemia; Hyperchylomicronemia; Hyperlipidemia; Lipemic serum; Xanthoma; LIPOPROTEIN-LIPASE DEFICIENCY; ALIPOGENE TIPARVOVEC; GENE-THERAPY;
D O I
10.1016/j.jacl.2017.10.018
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
Severe hypertriglyceridemia is the third most common cause of acute pancreatitis and is strongly associated with an increased risk of cardiovascular disease. In infants, the most common cause of severe hypertriglyceridemia is lipoprotein lipase deficiency. We describe a 7-week-old infant with severe hypertriglyceridemia, who presented with frequent gastrointestinal bleeding, respiratory distress, a decreased level of consciousness and lipemia retinalis. Triglycerides were reduced from 734 to 2 mmol/L (64,956-177 mg/dL), by exchange transfusions. The infant made a remarkable recovery with no sequelae. This case highlights atypical, protean presentations and a potential treatment when established therapies are unavailable. (C) 2017 National Lipid Association. All rights reserved.
引用
收藏
页码:243 / 245
页数:3
相关论文
共 16 条
[1]  
Amer Diabet Assoc, 2012, DIABETES CARE, V35, pS64, DOI [10.2337/dc09-S062, 10.2337/dc12-S064, 10.2337/dc19-S002, 10.2337/dc18-S002]
[2]   Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy [J].
Ashraf, Ambika P. ;
Hurst, Anna C. E. ;
Garg, Abhimanyu .
JOURNAL OF CLINICAL LIPIDOLOGY, 2017, 11 (03) :757-762
[3]   Hypertriglyceridaemia: Aetiology, complications and management [J].
Blom, D. J. .
SOUTH AFRICAN FAMILY PRACTICE, 2010, 52 (02) :107-113
[4]   Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride [J].
Buonuomo, Paola Sabrina ;
Rabacchi, Claudio ;
Macchiaiolo, Marina ;
Trenti, Chiara ;
Fasano, Tommaso ;
Tarugi, Patrizia ;
Bartuli, Andrea ;
Bertolini, Stefano ;
Calandra, Sebastiano .
JOURNAL OF CLINICAL LIPIDOLOGY, 2017, 11 (06) :1329-1337
[5]  
Chen JH, 2004, WORLD J GASTROENTERO, V10, P2272
[6]  
Ewald Nils, 2012, Clin Res Cardiol Suppl, V7, P31
[7]   Severe hypertriglyceridemia and pancreatitis: presentation and management [J].
Ewald, Nils ;
Hardt, Philip D. ;
Kloer, Hans-Ulrich .
CURRENT OPINION IN LIPIDOLOGY, 2009, 20 (06) :497-504
[8]   Familial lipoprotein lipase deficiency in infancy:: Clinical, biochemical, and molecular study [J].
Feoli-Fonseca, JC ;
Lévy, E ;
Godard, M ;
Lambert, M .
JOURNAL OF PEDIATRICS, 1998, 133 (03) :417-423
[9]   Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis [J].
Gaudet, Daniel ;
Stroes, Erik S. ;
Methot, Julie ;
Brisson, Diane ;
Tremblay, Karine ;
Moens, Sophie J. Bernelot ;
Iotti, Giorgio ;
Rastelletti, Irene ;
Ardigo, Diego ;
Corzo, Deyanira ;
Meyer, Christian ;
Andersen, Marc ;
Ruszniewski, Philippe ;
Deakin, Mark ;
Bruno, Marco J. .
HUMAN GENE THERAPY, 2016, 27 (11) :916-925
[10]   Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency [J].
Gaudet, Daniel ;
de Wal, Janneke ;
Tremblay, Karine ;
Dery, Stephane ;
van Deventer, Sander ;
Freidig, Andreas ;
Brisson, Diane ;
Methot, Julie .
ATHEROSCLEROSIS SUPPLEMENTS, 2010, 11 (01) :55-60