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Background: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder with loss of function mutations of lipoprotein lipase resulting in hypertriglyceridemia and accumulation of chylomicrons in plasma, often leading to acute pancreatitis. The mainstay of treatment is a specialized very-low-fat diet. Even adhering to the diet, some patients may experience high triglycerides and pancreatitis. There currently are no comprehensive dietary guidelines., Objective: To report best practices and develop comprehensive dietary guidelines for nutrition therapy in patients with FCS., Methods: Registered dietitian nutritionists (RDNs) convened to develop this report based on experience treating patients with FCS and a review of current literature on the topic. One author provided a patient perspective of living with FCS., Results: This report provides guidelines and rationales for nutrition therapy associated with FCS across the life span. The top global guidelines are to (1) limit fat to <15 to 20 g per day (<10%-15% of total daily energy intake); (2) meet recommendations for essential fatty acids: α-linolenic acid and linoleic acid; (3) choose complex carbohydrate foods while limiting simple and refined carbohydrate foods; (4) supplement with fat-soluble vitamins, minerals, and medium-chain triglyceride oil, as needed; (5) adjust calories for weight management. Recommended foods include vegetables, whole grains, legumes, lean protein foods, fruits in limited amounts, and fat-free milk products without added sugars. Foods to avoid include alcohol and products high in sugar., Conclusions: These patient-centered nutrition guidelines provide guidance to help patients adhere to the recommended diet and optimize nutritional needs., (Copyright © 2018 National Lipid Association. Published by Elsevier Inc. All rights reserved.)

Context: Patients with type 1 hyperlipoproteinemia (T1HLP), a rare genetic disorder, have extreme chylomicronemia and recurrent episodes of acute pancreatitis. Currently, the only therapeutic option is to consume an extremely low-fat diet because the triglyceride-lowering medications are not efficacious., Objective: To determine the efficacy of orlistat, a gastric and pancreatic lipase inhibitor, in reducing serum triglyceride levels in patients with T1HLP., Design and Setting: We conducted a randomized, open-label, clinical trial with a four-period, two-sequence ("orlistat" and "off orlistat" for 3 months), crossover study design., Patients: Two unrelated young Asian Indian males (11 and 9 years old) with T1HLP due to homozygous large GPIHBP1 deletions were enrolled at the UT Southwestern Medical Center. The patients were randomized to receive 3 months of orlistat or no therapy (off), then crossed over to the other arm, and this sequence was then repeated. Fasting serum triglyceride levels, fat-soluble vitamins, and gastrointestinal side effects were assessed., Results: Compared with the two off periods, orlistat therapy reduced serum triglycerides by 53.3% and 53.0% in patient 1 and 45.8% and 62.2% in patient 2. There was no deficiency of fat-soluble vitamin levels, and their growth continued. There were no serious adverse effects of orlistat; patient 1 had a mild increase in passage of gas and bloating, and patient 2 had constipation with mild stool leakage., Conclusion: Orlistat is safe and highly efficacious in lowering serum triglycerides in children with T1HLP and should be the first-line therapy in conjunction with an extremely low-fat diet.

Lipoprotein lipase (LPL) deficiency is an autosomal recessive condition due to absent or decreased activity of LPL enzyme. The LPL deficiency is a rare condition that is mainly diagnosed in children, but there is no standard screening method at this time. In our report, we describe a 6-day-old male infant who was found to have hypertriglyceridemia after lipemia retinalis was diagnosed from a fundoscopic examination for nonaccidental trauma work-up. After dietary modification was done, his triglyceride levels decreased significantly, and there were no complications. When diagnosed later in life, recurrent pancreatitis can be a significant complication.

Background: Postprandial hyperlipemia is recognized as a major cardio-metabolic risk factor, recently linked to the co-absorption of pro-inflammatory lipopolysaccharides with dietary lipids. This causes endotoxemia that is involved in the pathophysiology of obesity and insulin resistance, but to date the impact of food formulation is unknown. We tested a novel concept that endotoxin absorption can be modulated by fat emulsified structure in the meal, and potentially differently in obese vs. lean men., Methods: In a randomized controlled crossover study, eight normal-weight and eight obese age-matched healthy men ingested two isocaloric, isolipidic breakfasts of identical composition including 40 g of milk fat that was emulsified or unemulsified. Plasma- and chylomicron-endotoxemia and chylomicron-triglycerides were measured during 8 h after breakfast ingestion., Results: After emulsion consumption, parallel to an enhanced chylomicronemia, obese subjects presented an early and sharp increase in chylomicron-endotoxemia at 60 min (P time  = 0.02), which was higher than (i) after spread fat in obese subjects (P < 0.05) and (ii) after both spread and emulsified fat in normal-weight subjects (P < 0.05). However in obese subjects, the iAUC of plasma endotoxemia over 8 h was lower after emulsion than after spread fat (P < 0.05) whereas in NW subjects such reduction of plasma LPS-iAUC was not observed (P = 0.67)., Conclusion: This study provides initial evidence that optimizing fat structure in the meal can be part of a dietary strategy to lower the metabolic impact of postprandial endotoxemia in obese men., Trial Registration: Registered at ClinicalTrials.gov # NCT01249378 on July 13, 2010.

Background/objective: Subjects suffering from lipoprotein lipase (LPL) deficiency show very severe hypertriglyceridemia, often accompanied by recurrent bouts of pancreatitis. Dietary intervention is currently considered first-line treatment of this condition in paediatric age. The aim of our study was to compare the effects of dietary treatment with a low-fat diet alone and a low-fat diet enriched with omega-3-fatty acids., Subjects/methods: The data of 11 patients with LPL deficiency who were diagnosed in our lipid clinic between October 1997 and October 2007 were summarised. All patients had been treated with a low-fat diet, and in addition a group of five patients received supplements of omega-3-fatty acids over a period of at least 5 months., Results: After adjustment for pre-intervention TG concentration, there was a statistically significant difference in post-intervention TG concentrations between the interventions, F(1,8)=13.529, P=0.006, partial η 2 =0.628. Post-intervention-adjusted TG concentrations were statistically significantly greater in the low-fat diet group vs the w3 diet group (P <0.05)., Conclusions: We provide first evidence that a low-fat diet supplemented with omega-3-fatty acids results in a pronounced decrease in TG in paediatric patients affected with LPL deficiency. However, further studies are necessary to evaluate the long-term effects and safety of omega-3-fatty acids.

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease due mainly to inherited deficiencies in the proteins or enzymes involved in the clearance of triglycerides from circulation. It usually happens in late childhood and adolescence, which can have serious consequences if misdiagnosed or untreated. In the present study, we investigated two Chinese male babies (A and B), 30d and 48d in age, respectively, who have milky plasma. Clinical, biochemical, and radiological assessments were performed, while samples from the patients were referred for molecular diagnosis, including genetic testing and subsequent analysis of related genes. The fasting serum lipids of the two patients showed extreme lipid abnormalities. Through a low-lipid formula diet including skimmed milk and dietary advice, their plasma lipid levels were significantly lower and more stable at the time of hospital discharge. The genetic testing revealed compound heterozygote mutations in the lipoprotein lipase (LPL) gene for patient A and two known compound heterozygote LPL gene mutations for the patient B. FCS is the most dramatic example of severe hypertriglyceridemia. Early diagnosis and timely dietary intervention is very important for affected children.

Background: Severe hypertriglyceridemia predisposes to attacks of acute pancreatitis, a serious condition complicated by multiorgan failure, pancreatic necrosis, and mortality rates up to 20% in adults and 6.5% in children., Overview: We describe an infant who suffered from an episode of acute pancreatitis from severe hypertriglyceridemia. Two major challenges complicate the case: identifying the etiology of severe hypertriglyceridemia and finding an efficacious treatment. A thorough history, physical examination, and laboratory workup failed to identify a clear etiology, prompting a genetic workup that identified compound heterozygous mutations in the glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) gene. This patient's hypertriglyceridemia responded to an infant formula rich in medium chain triglycerides (MCTs), and she remained free of pancreatitis 6 months later., Conclusions: This case highlights the need to pursue a genetic evaluation in the absence of secondary causes of severe hypertriglyceridemia in infants. Patients with mutations in GPIHBP1 fail to respond to currently available lipid-lowering agents so dietary management-specifically, an extremely low-fat diet and supplementation with MCT-remains the cornerstone of therapy. Treatment in infants should focus on dietary measures rather than pharmacologic agents., (Copyright © 2014 National Lipid Association. Published by Elsevier Inc. All rights reserved.)

We report the case of a 12-week-old boy presenting with increased cholesterol and triglyceride levels. Examination revealed lipemia retinalis. Genetic evaluation demonstrated lipoprotein lipase deficiency. The patient was treated with dietary restrictions, which resulted in rapid clinical improvement., (Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

Lipoprotein lipase deficiency (LPLD) represents a rare ( < 1:100000), life-threatening neonatal condition, and a challenge for dietary management. We describe a neonate who developed diabetes mellitus as a feature of LPLD, without evidence of pancreatitis.

Objectives: To describe the characteristics of lipoprotein lipase (LPL)-deficient patients seen in infancy and to evaluate the safety and efficacy of severe fat restriction., Methods: Children <1 year old presenting with chylomicronemia between 1972 and 1995 were identified, and their clinical courses were reviewed retrospectively., Results: LPL deficiency was demonstrated in 16 infants who presented with irritability (n = 7), lower intestinal bleeding (n = 2), pallor, anemia, or splenomegaly (n = 5), and a family history or fortuitous discovery (n = 2). All plasma samples were lactescent at presentation. Chylomicronemia responded rapidly to dietary fat restriction, and it was possible to maintain satisfactory metabolic control for a prolonged period of time. Only 1 adolescent girl had an episode of pancreatitis associated with the use of oral contraceptives. No persistent adverse effects on growth were seen. We obtained abnormal values for serum iron, alkaline phosphatase, and total calcium., Conclusions: The presentation of LPL deficiency is heterogeneous during infancy. Close dietary monitoring is required to avoid nutritional deficiencies. Estrogen therapy should be avoided in LPL-deficient patients.

Lipoprotein lipase (LPL) is a rate-limiting enzyme for the hydrolysis of triglycerides. Recently new insights into non-enzymatic functions have emerged. Complete lipoprotein lipase deficiency associated with chylomicronemia is an uncommon (1/10(6) in the general population) autosomal recessive disorder caused by many different lipoprotein lipase gene mutations and is characterized by high fasting plasma triglyceride levels, that can be complicated with acute pancreatitis. To date, about sixty gene mutations have been described throughout the world. Conversely to the homozygous state, the heterozygous state predisposes to a lipid profile that may be atherogenic evenly frequent (approximately 1/500) in the general population. These new clinical and biological insights reinforce the multifunctional role of lipoprotein lipase.

A now 24-year-old woman was found at the age of 2 years to have an hyperchylomicronaemia syndrome due to lipoprotein lipase deficiency: the triglyceride level was then 6000 mg/dl. But in subsequent years it had been reduced to between 550 and 2600 mg/dl by dieting. There were no xanthomas or abdominal symptoms during those years. When aged 20 years she was put on oral contraceptives (one-phase preparation: 0.03 mg ethinylestradiol and 0.075 gestodene). Six months later she had the first attack of severe necrotizing pancreatitis; three more attacks followed in the subsequent 6 months. All four attacks occurred during the drug-free period of the menstrual cycle. The relationship with contraceptive intake was not established until the fourth attack. The last acute pancreatitis (lipase 3283 U/l amylase 595 U/l, triglyceride 2400 mg/dl, WBC count 13,899/microliters; ultrasonography revealed fluid swelling and necrotic areas, especially around the splenic hilus) regressed within 5 days and has not recurred for 3 years after the patient stopped taking oral contraceptives. On a diet the triglyceride level has been around 880 mg/dl.

The familial hyperchylomicronaemia syndrome is a hereditary disorder of lipoprotein metabolism caused by lipoprotein lipase (LPL) deficiency, apolipoprotein(apo) CII deficiency or LPL inhibition. This syndrome, which is characterized by hyperchylomicronaemia, attacks of epigastric pain, recurrent pancreatitis and the presence of eruptive xanthomas, may ultimately lead to necrotizing pancreatitis or pancreatic insufficiency. Treatment consists of lifelong adherence to a low-fat diet to prevent hyperchylomicronaemia and its sequelae. We describe here the clinical course of a patient with acute pancreatitis due to hyperchylomicronaemia based on hereditary LPL deficiency. The different causes of the familial hyperchylomicronaemia syndrome and its therapy will be discussed and an update is presented of our knowledge concerning the basic molecular defects of this hereditary disorder.

Objective: We followed the clinical course of four patients with type I hyperlipidemia from two kindreds who presented at an early age., Patients: Two propositi presented with severe abdominal pain and bloody diarrhea at 8 and 10 weeks of age. They also exhibited delayed growth. We compared their course with that of two siblings (one sibling of each proband) who also have familial hyperchylomicronemia but were diagnosed and have subsequently shown normal growth., Main Results: Although each sibling pair possesses the same lipoprotein lipase gene defect and resides in a similar environment, significant differences in stature are apparent., Conclusion: Specific structural defects in the lipoprotein lipase gene alone do not define phenotypic presentation. However, severity of clinical presentation may influence future growth characteristics.

Newborn infants with inborn errors of lipid metabolism are relatively rare. There are only a few reports of hyperlipoproteinemia in infancy. In a six-day-old "healthy" newborn infant with a weight of 2960 gm a milky blood serum was found. Diagnosis of primary hyperlipoproteinemia type I was established by exclusion of other diseases and by analysis of blood lipids. Lack of lipoprotein lipase activity in postheparin plasma confirmed the diagnosis. The parents of the patient were normolipemic but showed reduced lipoprotein lipase activity. Thus, they were recognized as heterozygotes. A low fat (6-19 gm fat/d, 2-3 gm fat/kg bodyweight/d) diet with a high proportion of medium-chain triglycerides (78% MCT) lowered the initially extremely high serum triglyceride level (3674 mg/dl) significantly (214-711 mg/dl). Until the age of 7 months body weight and length followed the 10. percentile, head circumference followed the 50. percentile. Unexpectedly the patient died of pulmonary infection at the age of 8 months.

Five of six children with severe familial primary hypertriglyceridemia in the first three to five years of life had what we believe is a new clinical feature, intermittent swelling of the limbs and scrotum. This was associated with higher levels of plasma triglyceride (greater than 2,000 mg/dL) and, in some instances, venous stasis of the affected part. All children had severe elevation of plasma chylomicron levels and mild elevation of very low-density lipoprotein levels. Four of the subjects were siblings who demonstrated heterogeneity in plasma lipase activities after heparin sodium administration. The clinical features and the lipase heterogeneities suggest that these patients possibly have an unusual variant of primary hypertriglyceridemia.

A three-year-old boy is described with type I hyperlipoproteinaemia in association with recurrent scrotal pain and hepatosplenomegaly. His parents are consanguinous and it is likely that he is homozygous for an autosomal recessive trait, characterized by the absence of plasma lipoprotein lipase following intravenous injection of heparin. Studies have been performed in a number of first degree relatives, but the findings are inconclusive. He has responded well to a low fat diet with dramatic reductions in elevated plasma triglyceride concentrations.

The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia. A Western diet elicited a steep increase in plasma triglyceride concentration and the appearance of floating chylomicrons over a clear infranatant in fasting plasma. Postheparin lipoprotein lipase activity was moderately reduced to 38% of control values. Adipose tissue lipoprotein lipase activity was 10% of normal, whereas his muscle enzyme activity was within the reference range. Two-dimensional electrophoresis of plasma apolipoproteins revealed the presence of normal activator (apolipoprotein C-II). These results confirm the importance of the adipose tissue enzyme for the clearance of diet-derived plasma triglycerides.

The indications for dietetic and therapeutic measures vary according to the type of hyperlipidaemia. A low fat diet is difficult to maintain and has exceptional and precise indications. It is indispensable in type I hyperlipidaemia, particularly since there is at present no drug capable of reducing hyperchylomicronaemia. It is also indicated in type V hyperlipidaemia in association with a low carbohydrate diet--a dietetic treatment which may become troublesome in long terme and must be supervised by highly specialized dieticians. In all other types of hyperlipidaemia systematic reduction of fats is wrong on theoretical grounds and must be firmly rejected on account of its detrimental consequences. When the patient's weight is normal, a normolipidic diet should be prescribed, with emphasis on unsaturated fats. In obese patients, but only at the onset of treatment, an overall low calorie diet with restriction of fats and carbohydrates should be advised. As soon as the target weight is reached, however, this should be replaced by another weight-stabilizing, isocaloric and normolipidic diet. It is, in fact, this kind of diet which all patients with type II, III and IV hyperlipidaemia will finally require.