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For decades, familial hypertriglyceridemia (HTG) has been considered a specific entity characterized by an increase in VLDL particles and an autosomal dominant inheritance pattern. In the genomics era, it has been proven that familial HTG, although it could be grouped in families, had a polygenic inheritance in which the phenotype would be determined by concomitant environmental factors. Hence its inclusion in the group of polygenic HTGs. Clinically, they are characterized by moderate HTG, with the consequent increase in cardiovascular risk, and in rare cases, by severe HTG with risk of acute pancreatitis. Treatment will be based on controlling environmental factors, implementing hygienic-dietetic measures and sometimes drugs, to reduce cardiovascular risk in moderate HTGs and acute pancreatitis risk in severe HTGs.

Introduction: The Italian Association for the Study of the Pancreas promoted a survey on exploring the point of view of Italian pancreatologists regarding the diagnosis and the treatment of acute pancreatitis (AP) due to hypertriglyceridemia (HAP). Method: A questionnaire was administered, and it contained four sections regarding epidemiological characteristics of the participants, how the participants arrived at a diagnosis of the disease, how they treated familial hypertriglyceridemia, and whether they knew of the new drugs developed for the treatment of this disease. Definition of AP and HAP: In this survey, all participants followed this definition of AP: The diagnosis of AP requires two of the following three features: abdominal pain consistent with acute pancreatitis (acute onset of a persistent and severe epigastric pain, often radiating to the back); serum pancreatic enzymes at least three times greater than the upper limit of normal; and characteristic findings of acute pancreatitis using imaging techniques. On the other hand, HAP is characterized by serum triglyceride concentration of >1000 mg/dL as the diagnostic cut-off, even though a value of >500 mg/dL has been used for a more inclusive definition, since moderately elevated triglyceride levels have also been suggested as a risk factor for AP. Results. Nine percent of all managed patients with AP had HAP; 5.0 ± 7.7 patients per year had a recurrence of HAP, and the number of recurrences was about one. A diagnosis of hypertriglyceridemia was made by the majority of Italian physicians due to the presence of elevated serum triglycerides at a level of ≥880 mg/dL. Twenty-five physicians treated their patients with fibrates, 23 with statins, 11 with omega-3, one with medium-chain triglycerides, and six with plasmapheresis. Finally, fewer than 50% of the physicians knew of the new drugs to treat dyslipidemia. Conclusions: The results of this survey show that an educational program is important, and we also need an Italian National Registry both for improving knowledge regarding this disease and for identifying the causal factors in our country.

Serum sodium assay is a commonly performed laboratory test in a clinical setting and the results are taken for granted without being aware of the actual methods involved. In conditions like hyperlipidemia and hyperproteinemia, excessive lipids in serum dilute the water component of the serum. Since sodium is dissolved only in the aqueous phase of serum, the sodium content per unit volume of plasma is reduced. Currently, most of the laboratories use the indirect ion-selective electrode method (ISE), where the plasma sample is diluted before the measurement. Indirect ISE may not give accurate results in conditions with higher serum lipid and protein levels. Overcorrection of the serum sodium levels in pseudohyponatremia may cause serious complications. We report a case of a 26-year-old Asian male with a past medical history of chronic pancreatitis, familial hypertriglyceridemia, and fatty liver who presented to the emergency department with acute pancreatitis. Initially, the patient was found to have hyponatremia and he was started on hypertonic saline for one day. Later the patient's condition deteriorated and then it was determined that serum sodium results were a measurement artifact since the patient had extremely high levels of triglycerides. After realizing that it was a measurement artifact, the saline infusion was stopped and he was started on desmopressin. However, the patient deteriorated neurologically and expired later. As this patient had normal sodium levels, administration of hypertonic saline led to a fatal outcome.

Mutations in the LPL gene lead to familial hypertriglyceridemia (FHTG) . We have previously generated an iPSC line (AHQUi001-A) from a FHTG patient with a heterozygous p.C310R (c.928 T > C) mutation in the LPL gene. Here we genetically corrected the C310R mutation in the LPL gene using CRISPR/Cas9 technology to generate AHQUi001-A-1, which demonstrates normal karyotype, morphology, pluripotency, and potential to differentiate towards three germ layers.

Disorders of lipoprotein metabolism lead to atherosclerotic cardiovascular disease (ASCVD) and its clinical manifestations as well as other disorders such as pancreatitis. Blood lipid concentrations, including low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG), have been shown to be highly heritable. It is estimated that at least half of the variation in serum lipids between individuals can be explained by genetic variation. While some genetic lipid disorders are associated with increased risk of ASCVD, others result in reduced ASCVD risk. This chapter summarizes the prevalence, genetics, pathophysiology, clinical presentation, diagnosis, and treatments for diseases that primarily affect LDL (familial hypercholesterolemia, autosomal recessive hypercholesterolemia, and hereditary sitosterolemia), diseases that lead to elevated TG (familial combined hyperlipidemia, familial hypertriglyceridemia, familial dysbetalipoproteinemia, and familial chylomicronemia syndrome), diseases that lead to low HDL (familial hypoalphalipoproteinemia, complete and partial familial lecithin:cholesterol acyltransferase deficiency, and ApoA1 Milano), and diseases causing low LDL (abetalipoproteinemia, familial hypobetalipoproteinemia, loss-of-function proprotein convertase subtilisin kexin type 9 mutations, and chylomicron retention disease). The genetics, structure, and function of lipoprotein (a), and its association with ASCVD are also covered. The reader should keep in mind that in patients with underlying genetic lipid disorders, the phenotype can appear atypical if other superimposed disorders are present such as diabetes, metabolic syndrome, or use of medications that can affect lipids. Consideration of these factors can help with diagnosis when the presentation of a genetic dyslipidemia appears to be atypical.

Background Familial hypertriglyceridemia (FHTG) is a partially characterized primary dyslipidemia which is frequently confused with other forms hypertriglyceridemia. The aim of this work is to search for specific features that can help physicians recognize this disease. Methods This study included 84 FHTG cases, 728 subjects with common mild-to-moderate hypertriglyceridemia (CHTG) and 609 normotriglyceridemic controls. All subjects underwent genetic, clinical and biochemical assessments. A set of 53 single nucleotide polymorphisms (SNPs) previously associated with triglycerides levels, as well as 37 rare variants within the five main genes associated with hypertriglyceridemia (i.e. LPL, APOC2, APOA5, LMF1 and GPIHBP1) were analyzed. A panel of endocrine regulatory proteins associated with triglycerides homeostasis were compared between the FHTG and CHTG groups. Results Apolipoprotein B, fibroblast growth factor 21(FGF-21), angiopoietin-like proteins 3 (ANGPTL3) and apolipoprotein A-II concentrations, were independent components of a model to detect FHTG compared with CHTG (AUC 0.948, 95%CI 0.901–0.970, 98.5% sensitivity, 92.2% specificity, P Conclusions The clinical and genetic differences observed between FHTG and CHTG supports the notion that FHTG is a unique entity, distinguishable from other causes of hypertriglyceridemia by the higher concentrations of insulin, FGF-21, ANGPTL3, apo A-II and lower levels of apo B. We propose the inclusion of these parameters as useful markers for differentiating FHTG from other causes of hypertriglyceridemia.

Hypertriglyceridemia is a common problem in adults in the developed world. It is associated with increased levels of triglycerides within the blood, which subsequently promote the development of other diseases such as cardiovascular disease and pancreatitis. Triglycerides are mostly consumed through the diet and act as a source of energy in between meals. However, the levels of triglycerides increase proportionally with the number of calories consumed. This only leads to a problem if the total daily energy expenditure is exceeded.

Familial hypertriglyceridemia (FHTG) is an autosomal dominant disorder of lipoprotein metabolism, partly caused by mutations in the LPL gene, which encodes for the lipoprotein lipase. LPL deficiency can impair triglyceride hydrolysis which causes elevated plasma triglyceride levels. An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 53 years-old male patient with FHTG who had a heterozygous p.C310R (c.928 T > C) mutation in the LPL gene based on the sendai virus delivery system. The cellular model will offer a powerful tool to investigate pathogenic mechanisms in FHTG and to develop a treatment for FHTG.

ContextMutations in genes encoding the lipoprotein lipase enzyme, its cofactor, or transport proteins can cause severe familial hypertriglyceridemia, resulting in serious complications, such as severe pancreatitis, hepatosplenomegaly, lipid encephalopathy, and failure to thrive. Current treatment includes a low-saturated-fat formula enriched with high medium-chain triglyceride (TGs), oral fibrates, omega-3 fatty acids, or plasmapheresis.Case DescriptionA 71-day-old infant with very severe hypertriglyceridemia and recurrent pancreatitis associated with a likely pathogenic variant in the LPL gene was treated successfully with insulin infusion and a locally prepared low-fat formula feed after stopping breast milk. Subcutaneous insulin was administered daily from 9 to 30 months of age. His serum TG level was markedly lower, although higher than normal. No episodes of hypoglycemia were noted. Fenofibrate and omega-3 fatty acids were ineffective in this infant. At the last follow-up visit, he was 36 months old and growing normally. He was consuming a special meal plan and receiving insulin injections during high-fat meals. Two other young infants with severe hypertriglyceridemia were growing normally after a short course of insulin infusion and the same modified reduced long chain fat diet.ConclusionsInsulin is an unusual and affordable therapeutic option for some patients with severe hypertriglyceridemia and can be helpful in the prevention of acute and chronic complications. Locally available cereals and millets with high crude fiber and a low glycemic index, along with medium chain TGs, was used to prepare an economical special formula at home to maintain TG concentrations in the acceptable limits.

BACKGROUND The aim of this study was to determine the prognosis of severe disease and treatment approaches of both normal and pregnant, especially in patients with severe pancreatitis due to hypertriglyceridemia. MATERIAL AND METHODS We included 30 patients (20 females and 10 males) in this study whose follow-ups and treatments were performed after a diagnosis of hypertriglyceridemia-induced acute pancreatitis between January 2011 and May 2017. Patient personal information, such as age, sex, pre-treatment and post-treatment triglyceride levels, receipt of anti-hyperlipidemic treatments or plasmapheresis, and family history, were collected from hospital records and patient files. Patients with severe pancreatitis history, score, and prognosis were included to increase the value of our study. Mild and moderate cases were excluded. RESULTS The mean age of the patients was 35±6 years. Twenty-four patients (80%) received an anti-hyperlipidemic treatment before their pancreatitis attacks. Plasmapheresis was performed on 8 patients before their pancreatitis attacks. Eighteen patients (60%) had a family history suggesting familial hypertriglyceridemia. Twelve patients (40%) were pregnant. CONCLUSIONS The treatment of hypertriglyceridemia-induced acute pancreatitis was mostly confined to supportive, palliative treatments. However, plasmapheresis is a possible treatment option and should be used in the early stages of this disease. The response to medical treatment and support treatment was better in pregnant patients than in the other patient group, and pregnant patients did not require plasmapheresis.

Familial chylomicronemia syndrome (FCS) is a rare lipid disorder posing significant clinical burdens on patients. Due to its rarity, variety of presentations, and lack of universal diagnostic criteria, patients see an average of five physicians before diagnosis. We screened adults for a triglyceride level ≥1000 mg/dL from September 2015 to September 2016 and a history of pancreatitis and performed a thorough chart review on those who met the criteria. An adjudication panel used a definition that also called for supportive information including history of hypertriglyceridemia or family history of pancreatitis/hypertriglyceridemia. Among 297,891 adults with laboratory values available, 334 (0.11%) had triglyceride levels ≥1000 mg/dL, and 30 (9%) of those had pancreatitis. Most of these 30 patients were male (73%), had diabetes (90%), were taking a fibrate (93%), and were taking a statin (80%). The average body mass index was 32.5 ± 4.5 kg/m2. Six cases were ruled out, primarily due to substance abuse and/or isolated pancreatitis. Of the 24 suspected FCS cases, the average maximum triglyceride level was 3085 ± 1211 mg/dL. Electronic screening methods based solely on triglycerides ≥1000 mg/dL and pancreatitis eliminated 99.99% of the population, enabling the adjudication panel to focus on 30 cases. In 24 cases, FCS could not be ruled out; hence, the prevalence of FCS may be as high as 1 in 12,413.

// Yu Lun 1, * , Xiaofang Sun 1, * , Ping Wang 1 , Jingwei Chi 1 , Xu Hou 1 and Yangang Wang 1 1 Department of Endocrinology and Metabolic Diseases, The Affiliated Hospital of Qingdao University, Qingdao, China * Yu Lun and Xiaofang Sun contributed equally to this work Correspondence to: Yangang Wang, email: wangyangang9111@126.com Xu Hou, email: lunyu9111@gmail.com Keywords: lipoprotein lipase, hypertriglyceridemia, mutation, acute pancreatitis, compound heterozygosity Received: November 16, 2016 Accepted: April 11, 2017 Published: May 10, 2017 ABSTRACT Lipoprotein lipase (LPL) is widely expressed in skeletal muscles, cardiac muscles as well as adipose tissue and involved in the catabolism of triglyceride. Herein we have systematically characterized two novel loss-of-function mutations in LPL from a Chinese family in which afflicted members were manifested by severe hypertriglyceridemia and recurrent pancreatitis. DNA sequencing revealed that the proband was a heterozygote carrying a novel c.T928C (p.C310R) mutation in exon 6 of the LPL gene. Another member of the family was detected to be a compound heterozygote who along with the c.T928C mutation also carried a novel missense mutation c.A1187T (p.E396V) in exon 8 of the LPL gene. Furthermore, COS-1 cells were transfected with lentiviruses containing the mutant LPL genes. While C310R markedly reduced the overall LPL protein level, COS-1 cells carrying E396V or double mutations contained similar overall LPL protein levels to the wild-type. The specific activity of the LPL mutants remained at comparable magnitude to the wild-type. However, few LPL were detected in the culture medium for the mutants, suggesting that both mutations caused aberrant triglyceride catabolism. More specifically, E396V and double mutations dampened the transport of LPL to the cell surface, while for the C310R mutation, reducing LPL protein level might be involved. By characterizing these two novel LPL mutations, this study has expanded our understanding on the pathogenesis of familial hypertriglyceridemia (FHTG).

Background Although rare, familial hypertriglyceridemia can cause acute and life-threatening complications in pregnancy. Cases The first patient's pregnancy was complicated by multiple admissions for pancreatitis due to hypertriglyceridemia and noncompliance with gemfibrozil. In her second pregnancy, she was compliant with gemfibrozil and only experienced pancreatitis episodes toward the end of pregnancy. The second patient had diabetes mellitus and familial hypertriglyceridemia. She required multiple hospitalizations for diabetic ketoacidosis secondary to insulin noncompliance. In both pregnancies, she was compliant with gemfibrozil and had no complications related to hypertriglyceridemia. Conclusion Treatment with gemfibrozil in pregnancies complicated by hypertriglyceridemia may prevent complications without adverse maternal or fetal effects and could be considered in treating pregnant patients with severe hypertriglyceridemia. These cases also demonstrate the importance of medication compliance in the prevention of poor outcomes.

Poremećaji metabolizma lipida, zajedno s trendom nezdrave prehrane, tjelesne neaktivnosti i pretilošću rezultiraju globalno proširenoj ubrzanoj aterosklerotskoj bolesti. Interakcija genetskih predispozicija, stečenih poremećaja lipoproteina i okolišnih čimbenika dovodi do rane koronarne bolesti srca, infarkta miokarda i moždanog udara. Kardiovaskularne bolesti vodeći su uzrok smrti u svijetu i kod muškaraca i žena pa je zbog toga ispravna dijagnostika i pravodobno liječenje ovih poremećaja od iznimne važnosti. Cilj ovog rada je prikazati dosadašnje spoznaje o nasljednim poremećajima metabolizma lipida. Rad je podijeljen u četiri dijela od kojih svaki opisuje drugi aspekt teme. Prvi dio opisuje osnovnu terminologiju i fiziološke procese metabolizma lipida. U drugom dijelu opisane su najčešće primarne dislipidemije i nekoliko vrlo rijetkih poremećaja metabolizma lipida. Treći dio sadrži dijagnostičke metode kojima se kliničari služe u otkrivanju ovih poremećaja. U četvrtom dijelu su navedene najčešće terapijske opcije u liječenju primarnih dislipidemija., Lipid metabolism disorders, along with an unhealthy diet, physical inactivity and obesity, result in a globally extended, accelerated atherosclerotic disease. Interactions of genetic predisposition, acquired lipoprotein disorders and environmental factors lead to early coronary heart disease, myocardial infarction and stroke. Cardiovascular diseases are the main cause of death in the world for both men and women, and therefore the proper diagnosis and timely treatment of these disorders are of exceptional importance. The aim of this graduate thesis is an overview of the current knowledge about hereditary disorders of lipid metabolism. This overview is divided into four parts each describing another aspect of the theme. The first part describes basic terminology and physiological processes in lipid metabolism. The second part describes the most common primary dyslipidemia and several rare disorders of lipid metabolism. The third part focuses on the diagnostic methods used by clinicians to detect these disorders. The fourth part lists the most common therapeutic options for treating primary dyslipidemia.

Cholesterol reduction has markedly reduced major cardiovascular disease (CVD) events and shown regression of atherosclerosis in some studies. However, CVD has for decades also been associated with increased levels of circulating triglyceride (TG)-rich lipoproteins. Whether this is due to a direct toxic effect of these lipoproteins on arteries or whether this is merely an association is unresolved. More recent genetic analyses have linked genes that modulate TG metabolism with CVD. Moreover, analyses of subgroups of hypertriglyceridemic (HTG) subjects in clinical trials using fibric acid drugs have been interpreted as evidence that TG reduction reduces CVD events. This review will focus on how HTG might cause CVD, whether TG reduction makes a difference, what pathophysiological defects cause HTG, and what options are available for treatment.

A 45-year-old female with a history of hypertension presented with complaints of intermittent vision loss and blurred vision. Clinical examination revealed diffuse retinal whitening in the peripapillary area with multiple visible emboli in the first- and second-order arteries. The patient’s retinal findings were keeping within features of lipemia retinalis, and serum lipids were ordered which returned a triglyceride level of 1504 mg/dL. The patient was referred to primary care for vascular risk factor management and potential genetic testing. Ocular signs of hypertriglyceridemia manifest as lipemia retinalis, characterized by white vascular lesions and retinal lipid infiltration. The high comorbidity of hypertriglyceridemia and hypertension may warrant close monitoring hypertensive complications such as hypertensive retinopathy.

Introduction: Hypertriglyceridemia (HTG) is one of the most common metabolic disorders leading to pancreatitis and cardiovascular disease. HTG develops mostly due to impaired metabolism of triglyceride-rich lipoproteins. Although monogenic types of HTG exist, most reported cases are polygenic in nature. Aim: This review article is focused on the classification of Primary HTG and the genetic factors behind its development with the aim of providing clinicians a useful tool for early detection of the disease in order to administer proper and effective treatment. Discussion: HTG is often characterized by a complex phenotype resulting from interactions between genetic and environmental factors. In many instances, the complexity, perplexing causes, and classification of HTG make it difficult for clinicians to properly diagnose and manage the disorder. Better availability of information on its pathophysiology, genetic factors involved, environmental causes, and their interactions could help in understanding such complex disorders and could support its effective diagnosis and treatment. Conclusion: The current review has summarized the case definition, epidemiology, pathophysiology, clinical presentation, classification, associated genetic factors, and scope of genetic screening in the diagnosis of primary HTG.

Familial combined hyperlipidemia (FCHL) is the most prevalent primary dyslipidemia; however, it frequently remains undiagnosed and its precise definition is a subject of controversy. FCHL is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B. FCHL is an oligogenic primary lipid disorder, which can occur due to the interaction of several contributing variants and mutations along with environmental triggers. Controversies surrounding the relevance of identifying FCHL as a cause of isolated hypertriglyceridemia and a differential diagnosis of familial hypertriglyceridemia are offset by the description of associations with USF1 and other genetic traits that are unique for FCHL and that are shared with other conditions with similar pathophysiological mechanisms. Patients with FCHL are at an increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, non-alcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome. Management usually requires lipid-lowering therapy directed toward reducing cholesterol and triglyceride concentrations along with cardiovascular risk protection. In recent years, the number of research studies on FCHL has been decreasing, mainly due to a lack of recognition of its impact on disease burden and comorbidity and the complexity in identifying probands for studies. This creates areas of opportunity to develop research for FCHL in epidemiology, genetics, pathophysiology, therapeutics, and cardiovascular risk management, which are discussed in depth in this review. (REV INVEST CLIN. 2018;70:224-36).

Familial hypertriglyceridemia is a rare autosomal recessive inborn error of metabolism. Mutation within the LPL gene constitutes the first cause of monogenic etiology. Lipoprotein lipase (LPL) is the key enzyme in triglyceride-rich lipoproteins catabolism. Familial LPL deficiency is expressed by eruptive xanthomatosis and acute pancreatitis. We report a Moroccan case with a monstrous hypertriglyceridemia caused by LPL gene mutation. We discuss pathophysiology aspects according to available investigations data and the relevance of familial screening. The proband is a 19-year-old woman originating from the village of Taourirt (South of Morocco). She was admitted in emergency for diabetic ketoacidosis. Clinical investigations and routine laboratory tests were performed upon admission. Then lipoprotein electrophoresis and sequencing of the LPL gene were practiced. A monstrous hypertriglyceridemia up to 199 mmol/L was found. Lipoprotein electrophoresis has objectified profound disturbances on chylomicrons, VLDL and IDL. The sequencing detected a missense mutation p.S286R at homozygous state in a consanguinity context. Discovery of this LPL gene mutation is the first indigenous and documented case, never related in any other ethnic group. It constitutes a novel proof of a founder effect in the south Moroccan population. Prevalence studies with familial screening should be done for preventative action which is the only acceptable way to limit the cardiovascular and pancreatitis risks in this population where inbreeding is a general rule.

Hyperlipidemia is very common in general population and incidence has further increased in recent years. Evaluation of patient presenting with lipid disorders is essential to obtain a definite diagnosis to prevent complications, and apply the most appropriate treatment. An isolated elevation in triglyceride levels may be caused by a primary disorder of lipid metabolism like familial hypertriglyceridemia. It may also arise secondary to a number of conditions like diabetes mellitus, alcohol intake, hypothyroidism, drugs, infections and nephrotic syndrome. Herein, we describe a case of secondary hypertriglyceridemia leading to Nonalcoholic Steatohepatitis (NASH) in a young female which was attributed to Multiple Myeloma (MM). Significant reduction in triglyceride levels after starting anti-myeloma therapy established their relation. This is the first case of light chain myeloma causing severe secondary hypertriglyceridemia.

Serum levels of maternal lipids rise physiologically in normal pregnancy, and women with underlying hypertriglyceridemia may experience dramatic elevations which place them at risk for pancreatitis. We describe the case of a woman with severe familial hypertriglyceridemia and prior pancreatitis who discontinued her lipid-lowering therapy early in pregnancy. She promptly developed severe abdominal pain and was hospitalized with acute pancreatitis during the late first trimester. Despite aggressive medical treatment and critical care monitoring, she developed abdominal compartment syndrome (ACS) with associated acute renal failure, which progressed to cardiorespiratory failure and was ultimately fatal. ACS is an alarming complication of acute pancreatitis that has been poorly studied in pregnancy.

Acute pancreatitis is a potentially life-threatening complication of severe hypertriglyceridemia. In some cases, inborn errors of metabolism such as lipoprotein lipase deficiency, apoprotein C-II deficiency, and familial hypertriglyceridemia have been reported as causes of severe hypertriglyceridemia. More often, severe hypertriglyceridemia describes various clinical conditions characterized by high plasma levels of triglycerides (>1000 mg/dL), chylomicron remnants, or intermediate density lipoprotein like particles, and/or chylomicrons. International guidelines on the management of acute pancreatitis are currently available. Standard therapeutic measures are based on the use of lipid-lowering agents (fenofibrate, gemfibrozil, niacin, Ω-3 fatty acids), low molecular weight heparin, and insulin in diabetic patients. However, when standard medical therapies have failed, non-pharmacological approaches based upon the removal of triglycerides with therapeutic plasma exchange can also provide benefit to patients with severe hypertriglyceridemia and acute pancreatitis. Plasma exchange could be very helpful in reducing triglycerides levels during the acute phase of hyperlipidemic pancreatitis, and in the prevention of recurrence. The current evidence on management of acute pancreatitis and severe hypertriglyceridemia, focusing on symptoms, treatment and potential complications is reviewed herein.

We present a patient with familial hyperchylomicronemia. Family history was burdened with hypertriglyceridemia: patient's father, his mother, sisters and nieces were diagnosed with hypertriglyceridemia. During childhood and adolescence, her triglyceride levels were well controlled with a low carbohydrate and fat diet. At the age of 25, the patient developed acute pancreatitis for the first time. Over the subsequent two years, the patient experienced two episodes of acute pancreatitis and immediately gemfibrozil therapy was introduced.

Familial severe hypertriglyceridemia (levels greater than 1000 mg/dL) is a known cause of acute pancreatitis. Pregnancy can dysregulate controlled lipid levels in women with familial hypertriglyceridemia and lead to acute pancreatitis and significant morbidity in both mother and fetus. We report a case of hypertriglyceridemia-induced pancreatitis during pregnancy that was successfully treated using therapeutic plasma exchange, resulting in delivery of a healthy preterm infant. Therapeutic plasma exchange is an effective approach to treat gestational hypertriglyceridemia-induced pancreatitis. Other treatment options include combined heparin and insulin infusion. Moreover, particular caution should be applied when interpreting the results of prothrombin time in the setting of severe hypertriglyceridemia as false elevation with testing methods could happen.

Iron deposits are associated with lipid phenotype in familial hypertriglyceridemias, mainly familial combined hyperlipidemia (FCH) and familial hypertriglyceridemia (FHTG). In turn, diet plays an important role in hypertriglyceridemias although it is not known if dietary patterns are associated with iron concentration in these disorders. The objective was to determine the relationship between diet and iron deposits, measured through serum ferritin concentration, in patients with FCH and FHTG. The study was composed of 140 patients, 107 with FCH and 33 with FHTG. Subjects completed a validated 137-item food frequency questionnaire. Dividing subjects by ferritin tertiles adjusted by sex, there were no significant differences in dietary patterns except in dairy products consumption which was lower in the highest ferritin tertile. Subjects were also divided by triglycerides tertiles adjusted by sex. Those subjects in the highest tertile had lower HDL cholesterol and higher ferritin concentrations. Regarding to dietary parameters, there were significant differences in marine omega three fatty acids and vegetables presenting higher and lower consumption, respectively, those patients in the highest tertile of triglycerides. Moreover, there was not a significant correlation between dietary iron intake and any parameter, both biochemical and dietary, including ferritin concentrations. In conclusion, in patients with primary hypertriglyceridemia, triglycerides are associated with ferritin concentrations but dietary patterns are not related to iron deposits. Our results highly support the concept that the genetic mechanisms driven to hypertriglyceridemia also favor iron overload.

Familial combined hyperlipidemia (FCH) and familial hypertriglyceridemia (FHTG) share pathogenic mechanisms and a high interaction with components of the metabolic syndrome. The metabolic syndrome associates increased serum ferritin concentration and high cardiovascular risk. The objective was to describe the frequency of iron overload and the relationship between serum ferritin and the phenotype in patients with FCH and FHTG. The study was composed of 211 consecutive unrelated patients aged at least 18 years with primary hypertriglyceridemia, 149 with FCH, and 62 with FHTG. The prevalence of the metabolic syndrome and hyperferritinemia was very high in both hypertriglyceridemic groups (51.7% and 20.1% in FCH and 62.9% and 16.1% in FHTG, respectively), without significant statistical differences between them. Serum ferritin concentration did not show any significant association with the number of metabolic syndrome criteria. Subjects in the highest tertile of ferritin concentration (ferritin >200 mug/L) presented higher concentrations of triglycerides and liver enzymes than subjects in the first tertile of ferritin concentration (ferritin