scholarly journals A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis

2016 ◽  
Vol 15 (1) ◽  
Author(s):  
Jingjing Jiang ◽  
Yuhui Wang ◽  
Yan Ling ◽  
Abudurexiti Kayoumu ◽  
George Liu ◽  
...  
2016 ◽  
Vol 15 (1) ◽  
Author(s):  
Jingjing Jiang ◽  
Yuhui Wang ◽  
Yan Ling ◽  
Abudurexiti Kayoumu ◽  
George Liu ◽  
...  

2010 ◽  
Vol 43 (3) ◽  
pp. 285-289 ◽  
Author(s):  
Gurhan Kadikoylu ◽  
Vahit Yukselen ◽  
Irfan Yavasoglu ◽  
Adil Coşkun ◽  
A. Onder Karaoglu ◽  
...  

2015 ◽  
Vol 33 (1) ◽  
pp. 45-46 ◽  
Author(s):  
Yuanyuan Xu ◽  
Xi'an Fu ◽  
Baoqi Yang ◽  
Hong Liu ◽  
Furen Zhang

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 5102-5102
Author(s):  
Gurhan Kadikoylu ◽  
Irfan Yavasoglu ◽  
Adil Coskun ◽  
Ali Onder Karaoglu ◽  
Zahit Bolaman

Abstract Hypertriglyceridemia causes acute pancreatitis in 1.3-3.8% of the patients. It is generally believed that the risk of acute pancreatitis increases in patients with severe hypertriglyceridemia (a triglyceride level of more than 1000 mg/dL). Although the mechanism of hypertriglyceridemia-induced acute pancreatitis (HIAP) is not clear, hydrolysis of triglycerides in and around the pancreas by pancreatic lipase seeping out of the acinar cells leads to accumulation of free fatty acids (FFA) in high concentrations. FFA are toxic and destroy acinar cells and capillary endothelium. Moreover, an increased concentrations of chylomicrons causes capillary plugging, ischemia, and acidosis. FFA in acidosis activate trypsinogen and initiate acute edematous and necrotizing pancreatitis . Therapeutic plasma change (TPE) is effective in HIAP in a few case series. According to a committee of the American Society of Apheresis in 2013, TPE is recommended to treat patients with HIAP as Category III indication. In this study, we evaluated the effectiveness of TPE in patients with acute recurrent pancreatitis due to severe hypertriglyceridemia as emergent therapy. Ten patients (8 male and 2 female, mean age 39±9 years) were treated with 14 TPE procedures. All patients were admitted to intensive care unit and treated with serum saline (4-6 L/day) and antibiotics such as meropenem, imipenem, or piperacillin-tazobactam. There was recurrent pancreatitis in six patients’ medical history. According to Balthazar classification, while 4 patients were in stage-C, each 2 patients were in stages-A, D, and E. Mean Ranson’s scores (prognostic scoring system) were 1.3 and 1 in admission and after 48 hours, respectively. Central venous route in 64% of TPE and fresh frozen plasma in 71% of TPE were used. A Haemonetics MCS+ instrument with intermittent flow and acid citrate dextrose solution to whole blood ratio of 1:14 as anticoagulation solution were used. Mean 6280 ml. plasma was exchanged. Mean duration of TPE was 221±79 min. Mean 773 ml. ACD solution was used. In all patients, triglyceride levels lowered less than 1000 mg/dL after one day of TPE. Mean triglyceride levels of the patients significantly decreased from 2876±1701 mg/dL to 1015±1137 mg/dL (p<0.001). Moreover the levels of mean total cholesterol and VLDL-cholesterol were significantly lowered from 483±279 mg/dL to 222±74 mg/dL (p=0.043) and from 574±338 mg/dL to 202±228 mg/dL (p<0.001), respectively. After one hour PE, platelet counts significantly lowered (p=0.007), but the levels of amylase and hemoglobin levels, and white blood cell counts did not change (p>0.05). One patient with necrotizing pancreatitis was died from multi-organ failure after 7 days. Other nine patients were discharged from hospital without local and systemic complication. Two procedures could not be completed due to instrumental problems. Nausea/vomiting and hypotension were seen in each one patient. Hypertriglyceridemia should be considered as a cause of acute recurrent pancreatitis. In conclusion, although now there is no evidence about early application of TPE, this procedure can be of benefit by correcting the clinical course may be effective as adjunctive therapy along with medical treatment in the treatment of acute pancreatitis due to severe hypertriglyceridemia. Disclosures No relevant conflicts of interest to declare.


genesis ◽  
2019 ◽  
Vol 57 (11-12) ◽  
Author(s):  
Yongkun Zhan ◽  
Weicheng Chen ◽  
Zhiyu Feng ◽  
Chaozhong Tan ◽  
Mengru Li ◽  
...  

2017 ◽  
Vol 102 (5) ◽  
pp. 1454-1457 ◽  
Author(s):  
Masako Ueda ◽  
Richard L. Dunbar ◽  
Anna Wolska ◽  
Tracey U. Sikora ◽  
Maria del Rosario Escobar ◽  
...  

Abstract Context: Familial chylomicronemia syndrome (FCS) is a rare heritable disorder associated with severe hypertriglyceridemia and recurrent pancreatitis. Lipoprotein lipase deficiency and apolipoprotein C-II deficiency are two well-characterized autosomal recessive causes of FCS, and three other genes have been described to cause FCS. Because therapeutic approaches can vary according to the underlying etiology, it is important to establish the molecular etiology of FCS. Case Description: A man originally from North Africa was referred to the University of Pennsylvania Lipid Clinic for severe hypertriglyceridemia and recurrent pancreatitis, consistent with the clinical diagnosis of FCS. Molecular analyses of FCS-associated genes revealed a homozygous missense variant R72T in APOC2. Molecular modeling of the variant predicted that the apolipoprotein C-II R72T peptide has reduced lipid binding affinity. In vitro studies of the patient’s plasma confirmed the lack of functional apoC-II activity. Moreover, the apoC-II protein was undetectable in the patient’s plasma, quantitatively as well as qualitatively. Conclusions: We identified a missense APOC2 variant causing apoC-II deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis. Beyond dietary management and usual pharmacologic therapies, an apoC-II mimetic peptide may become an optional therapy in patients with apoC-II deficiency in the future.


Sign in / Sign up

Export Citation Format

Share Document