Case Of Severe Hypertriglyceridemia Research Articles

A case of severe hypertriglyceridemia in pregnancy and review of the literature

A case of severe hypertriglyceridemia in pregnancy and review of the literature

A-222 Comparative Analysis of Clinical and Laboratory Parameters of Brazilian Patients with Severe Hipertriglyceridemia

Abstract Background The presence of elevated and sustained levels of triglycerides (TG) should raise the suspicion of primary causes of hypertriglyceridemia (HT), in which related genetic mutations would be identified. Thus, the aim of this study was to compare clinical and laboratory parameters of Brazilian patients with different etiologies of severe hypertriglyceridemia. Methods All patients with severe HT (considered as detection of TG above 880 mg/dL on at least 2 occasions) followed in the dyslipidemia outpatient clinic of Federal University of Ceará/Brazil, whose molecular study to investigate genetic variants potentially related to hypertriglyceridemia and pancreatitis has been previously performed (ABCA1 AGPAT2 AKT2 APOA5 APOC2 BSCL2 CAV1 CFTR CIDEC CTRC CYP27A1 GPIHBP1 LIPA LIPE LMF1 LMNA LMNB2 LPL PLIN1 POLD1 PPARG PRSS1 PSMB8 SMPD1 SPINK1 ZMPSTE24) were evaluated. Results Sixty-six patients were evaluated, identifying 39 (59%) with severe primary HT. Familial Chylomicronemia Syndrome (FCS) was identified in 14 (36%) of the 39 cases of severe primary HT. The main findings are shown in table 1. Compared with other etiologies, FCS patients presented an increased, precocious and recurrent incidence of pancreatitis, earlier detection and higher levels of TG. In patients with severe HT without identification of primary causes, a high incidence of alcoholism and diabetes was observed, with a tendency to higher glycated hemoglobin values among these, in addition to median Body Mass Index compatible with obesity. Conclusion FCS patients had the most severe clinical presentation of HT. The high prevalence of secondary factors for HT in patients with a negative genotype reinforces the indication of adequate management of these variables even in cases of primary etiology, aiming at not overlapping pathological mechanisms. In cases of severe HT, metabolic control is still a challenge.

Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics - Implications for Precision Medicine

<h3>Lead Author's Financial Disclosures</h3> Nothing to disclose. <h3>Study Funding</h3> GN HealthWatch. <h3>Background/Synopsis</h3> Most cases of severe hypertriglyceridemia (HTG) are polygenic disorders caused by the presence of rare heterozygous pathogenic variants (PV) and/or the accumulation of multiple common single-nucleotide polymorphisms (SNPs) as quantified by polygenic risk scores (PRSs). A high PRS (<b>≥</b>90th percentile in the general population) and the presence of PV have been shown to predict risk severe HTG. However, no data are available on the potential effects of PV and PRSs with respect to the risk for acute pancreatitis. We examined the association of PVs and PRSs on severity of HTG and risk for acute pancreatitis. <h3>Objective/Purpose</h3> Determine if genetic testing for hypertriglyceridemia provide additional clinical information beyond measurement of triglycerides regarding the risk for pancreatitis. <h3>Methods</h3> We conducted a multicenter retrospective cohort study through 3 academic lipid clinics in patients with hypertriglyceridemia who underwent genetic testing. The presence of HTG pathogenic variants (PVs) and polygenic risk scores (PRSs) were assessed by GBinsight Comprehensive Dyslipidemia Panel. Patients' highest recorded fasting TG level was included for analysis. HTG was categorized as moderate (200-499 mg/dL), severe (500-999 mg/dL), and very severe (<b>≥</b>1000 mg/dL). Multivariable logistic regression analysis was used to calculate odds ratio (OR) for acute pancreatitis in patients with PV, high PRS, or both. <h3>Results</h3> The risk for very severe HTG was increased in the presence of either PV or high PRS alone; however, this risk was attenuated when controlling for demographic factors (age, sex, BMI, and diabetes mellitus). In contrast, patients with both genetic risk factors (PV and high PRS) had significantly higher risk compared with those with neither genetic risk factor after adjustment for demographics (OR 58.72; 95% CI 8.29 - 415.57, p<0.001). Similarly, the risk for acute pancreatitis in those with PV or high PRS alone was attenuated after controlling for demographic factors and TG levels, whereas the increased risk for acute pancreatitis in patients with both PV and high PRS remained statistically significant (OR 4.28 (95% CI 1.01 - 18.14, p=0.048). <h3>Conclusions</h3> Patients with both a PV and a high PRS related to HTG have significantly higher risk for pancreatitis compared to those without a PV and a low PRS. However, the presence of a PV or high PRS alone did not result in a significant increase in risk. Genetic testing for patients with HTG has the potential to identify individuals at higher risk for pancreatitis and who are likely to benefit from novel therapies.

SÍNDROME DA HIPERTRIGLICERIDEMIA: UM RELATO DE CASO

Severe Hypertriglyceridemia Syndrome is associated with diseases such as Acute Pancreatitis and Coronary Artery Disease, caused due to the exacerbated increase in plasma levels of triglycerides. In acute conditions triggered by hypertriglyceridemia, such as acute pancreatitis, apheresis is the recommended treatment, and it should be instituted as soon as possible. The aim of this article is to describe two cases of severe hypertriglyceridemia and the clinical outcome of both patients after undergoing the apheresis procedure. In this report, we describe two cases of severe hypertriglyceridemia, one without clinical complaints and the other with acute abdominal pain. Both were treated with apheresis and presented good evolution, and are now being followed up on an outpatient basis. Early diagnosis and easy access for patients to this method of treatment contributed to the rapid reduction and clinical stability of cases.

Primary and Secondary Factors in Hypertriglyceridemia Induced Acute Pancreatitis: A Case-Based Focus Review

Hypertriglyceridemia (HTG) is a known cause of pancreatitis. We described a case of severe hypertriglyceridemia (likely familial) causing the first episode of pancreatitis in this patient. A 21-year-old female known for hypertriglyceridemia and DM type 2 came to the emergency room with severe epigastric pain along with nausea and vomiting. Physical exam revealed epigastric tenderness, diminished bowel sounds, and signs of dehydration. Initial blood work was mostly unremarkable mildly elevated lipase 83.

Severe hypertriglyceridemia secondary to uncontrolled diabetes mellitus successfully managed with insulin

Hypertriglyceridemia is one of the common lipid abnormalities in patients with type2 diabetes mellitus. It is extremely rare to develop severe hypertriglyceridemia in patients with diabetes mellitus on fibrates without any other risk factors for hypertriglyceridemia. Acute pancreatitis is the main consequence of severe hypertriglyceridemia. We report a case of severe hypertriglyceridemia in a patient with uncontrolled type 2 diabetes, on fibrate and was successfully treated with intravenous insulin infusion.

Severe hypertriglyceridemia caused by autoimmune disease: Case summary and literature review

Severe hypertriglyceridemia is the third common cause of acute pancreatitis following after alcohol abuse and cholelithiasis. Moreover, it is also an important risk factor of cardiovascular events. However, the cases of severe hypertriglyceridemia caused by autoimmune disease were rare in clinical, which would bring the difficulty for diagnosis and treatment. A better understanding of the clinical characteristics, possible pathogenesis, and corresponding therapy of the disease would be helpful, which would reduce the risk of complications, and finally improve both the survival rate as well as quality of life of these patients. (Chin J Endocrinol Metab, 2016, 32: 523-526) Key words: Severe hypertriglyceridemia; Autoimmune disease; Triglycerides; Hyperlipidemia.

Hypertriglycéridémies gestationnelles sévères : complications et principes de prise en charge

We present two cases of severe hypertriglyceridemia (HTG>10g/l) in pregnancy. The first reports the case of a primigravida with mild HTG before conception. Triglycerides (TG) increased thereafter (20.9g/l) during pregnancy causing pancreatitis and in utero fetal death at 24 weeks' gestation (WG). The second deals with the de novo occurrence of a severe HTG (19g/l) diagnosed incidentally at 34 WG and complicated by acute renal failure. Severe HTG in pregnancy threatens maternal and fetal prognosis. We have summarized the curative and preventive management of gravidic HTG.

A Case of Acute Pancreatitis and Severe Hypertriglyceridemia Associated with Clozapine

Clozapine, an atypical antipsychotic agent, has been linked to several cases of acute pancreatitis and hypertriglyceridemia. However, neither acute pancreatitis nor hypertriglyceridemia associated with clozapine has yet been reported in the Republic of Korea. Based on recent experience, we report on a case of severe hypertriglyceridemia and acute pancreatitis associated with clozapine. A 37-year-old schizophrenic woman in good physical condition presented with abdominal pain of acute onset. She had been taking clozapine for 20 months to control her schizophrenia. On admission, her serum triglyceride level was 6,670 mg/dL. Elevated serum amylase and lipase levels, as well as abdominal computed tomography findings, were compatible with acute pancreatitis. After discontinuing the use of clozapine, the serum triglyceride level was normalized and acute pancreatitis resolved.

Novel antipsychotics and severe hyperlipidemia

Newer atypical antipsychotics demonstrate superior effectiveness, with a diminished incidence of extrapyramidal side effects compared with older typical antipsychotics, but they have been associated with the development of obesity and new-onset diabetes. A small number of reports documenting modest hypertriglyceridemia related to newer antipsychotics have implicated fluperlapine, clozapine, and, most recently, olanzapine. This study summarizes the results of 14 cases of severe hypertriglyceridemia (>600 mg/dL) associated with olanzapine and quetiapine therapy occurring among inpatients at Oregon State Hospital, including 7 patients whose serum triglyceride levels exceeded 1,000 mg/ dL. Four of these patients also developed new-onset diabetes. Nine cases occurred during the first 8 months of treatment, with three cases identified within 3 months of commencing olanzapine or quetiapine therapy. Weight gain in olanzapine and quetiapine groups was modest (12.3 lb and 8.5 lb, respectively) and did not correlate with the severity of hypertriglyceridemia. Biochemical causes for severe hypertriglyceridemia associated with novel antipsychotics are unclear, but clinical monitoring of serum lipids must be added to the concerns about the metabolic consequences of therapy with certain newer antipsychotic agents.

Relation between apolipoprotein e phenotype and the changes in lipids during tamoxifen treatment.

We recently reported three cases of severe hypertriglyceridemia caused by tamoxifen-treatment after breast cancer surgery. In that report we showed that one of the three patients had apo E3/3 and another had E4/2 phenotype. There are few data about the relationship between apoprotein E phenotype, one of modifiers of lipoprotein metabolism, and tamoxifen induced lipemia. In the present study, we studied apo E phenotype to clarify the relationship between apo E phenotype and the changes in lipids during tamoxifen treatment. Plasma triglyceride levels in apo E3/3 and apo E4/3 were 114 +/- 9 mg/dl and 87 +/- 12 mg/dl, respectively, before tamoxifen treatment, and increased significantly to 191 +/- 35 mg/dl in apo E3/3 and 167 +/- 35 mg/dl in apo E4/3 during tamoxifen treatment. There was no significant difference between apo E3/3 and apo E4/3 in triglyceride levels before and during tamoxifen treatment. Plasma levels of total cholesterol during tamoxifen treatment in both apo E3/3 and apo E4/3 were similar to those before treatment. Our data suggest that the increase in triglyceride during tamoxifen treatment may occur in every type of apo E phenotype.

Hypertriglyceridaemia in a Child with Hypernatraemia Due to a Hypothalamic Tumour

Severe hypertriglyceridaemia is rare, particularly in childhood. Primary conditions resulting in hypertriglyceridaemia include chylomicronaemia (Type 1 hyperlipoproteinaemia) familial hypertriglyceridaemia, familial combined hyperlipidaemia, hypertriglyceridaemia in high density lipoprotein (HDL) deficiency syndromes and hepatic triglyceride lipase deficiency. A number of acquired or secondary forms of hypertriglyceridaemia have also been described including diabetes mellitus, glycogen storage disease Type I, hypothyroidism, chronic renal failure, paraproteinaemias and with certain drugs such as some beta blockers and diuretics. In addition, hyperlipidaemia, including hypertriglyceridaemia, has been observed in patients with hypothalamic lesions displaying 'essential hypernatraemia.' We report here a further case of severe hypertriglyceridaemia in a child with severe hypernatraemia secondary to a hypothalamic tumour.