The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Design
2.2. Clinical Anamnesis, Medical History and Blood Measurements
2.3. Diet
2.4. Statistical Analysis
3. Results
3.1. Patients
3.2. Genetics
4. Discussion
4.1. Recommended Implementation of FCS Nutrition
4.2. Strengths and Limitations
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Food Selection for Pediatric Patients with Familial Chylomicronemia Syndrome | ||
---|---|---|
Green Traffic Light You can eat and drink. | Yellow Traffic Light Pay attention to the amount. Age–appropriate portion size. | Red Traffic Light Do not eat and drink. |
Beverages | ||
Tap water, mineral water, all types of tea, fruit juice mixed with water, diluted fruit syrup (also with maltodextrin or sugar in case of high energy requirement considering the glycemic index) | Fruit whey 0.1% fat Lemonade without added sugar (light products) | Alcoholic drinks, mixed milk drinks with a fat content over 1% |
Bread and Cereal Products | ||
Bread without nuts and seeds, white bread, mixed bread, bread rolls, toast, wholemeal bread, cornflakes, pasta, rice, polenta without added fat, cereal flakes and mueslis without nuts and chocolate | Bread or rolls with seeds or nuts, yeast plaits | Croissant, chocolate croissant, chocolate donut, cheese straws, breakfast cereals with nuts, chocolate muesli |
Spreads | ||
Spread cheese up to 0.2% fat, tomato paste | Home–made vegetarian spreads up to 3% fat, honey, jam | Chocolate hazelnut spread, peanut butter, humus, spreads over 3% fat |
Potato and Potato Products | ||
Natural boiled potatoes, baked potatoes, salt potatoes, parsley potatoes without added fat, potatoes in the oven without fat, potato salad without oil | Mashed potatoes with milk (maximum 0.9% fat) and with medium chain triglyceride (MCT)–margarine/or MCT–oil | Fried potatoes, potato pancakes, french fries and croquettes prepared in the deep fryer, potato salad with oil or mayonnaise |
Spices | ||
All (except those listed in the yellow and red–marked area) | Ketchup, mustard | Spicy sauces with added fat |
Vegetables and Salad | ||
Fresh vegetables, frozen vegetables without added fat, all salads without added fat, canned vegetables without added fat, pure vegetable jars (complementary foods) without added fat (see list of ingredients) (maximum 0.5 g fat in 100 g). Beans (e.g. white, red), green peas, lentils (as tolerated) | Chickpeas | Vegetable sticks baked in fat, convenience products (e.g. roasted vegetables) with added cream or butter vegetables/creamed spinach, soy flour, soy beans tofu, olives |
Fruits and Nuts | ||
Fresh fruit, frozen fruit, canned fruit, chestnuts, pure fruit glasses (complementary food) | Dried fruit: raisins, bananas, apple rings, etc. (note the list of ingredients) | All types of nuts such as almonds, walnuts, pistachios, hazelnuts, coconuts, etc. avocado |
Milk and Dairy Products | ||
Milk/yoghurt up to 1% fat, buttermilk, skimmed curd/curd cream up to 1% fat, sliced cheese: up to 25% fat in the dry matter = approx. 13 g absolute fat/100 g; cream cheese: up to 8% absolute fat, cottage cheese up to 1% fat, cocoa with milk up to 1% fat, homemade pudding with milk up to 1% fat | Yoghurt, milk, curd milk over 1% fat, curd cheese/curd cream over 1% fat, fruit yoghurt over 1% fat, cheese over 25% fat in the dry matter, pudding and cocoa over 1% fat, curd cheese, whipped cream, creme fraiche | |
Meat, Sausage Products, Fish | ||
Turkey schnitzel, turkey breast, chicken breast (skinless) prepared without added fat, pork, veal, beef fillet or natural schnitzel prepared without added fat, beef (lean) minced meat, poultry sausages or sausages, ham cooked and raw without a fat rim, low–fat sausages up to 2% fat, low–fat fish e.g. saithe, cod, plaice, canned tuna in water, shrimp and prawns | Poultry with skin, breaded meat baked in fat, mixed minced meat, cheese filed sausages, Bernese sausage with bacon, Frankfurter sausages, pork sausage, ham, bacon, belly meat, liver sausage, salami, mortadella, blood sausage, meat loaf herring, salmon, mackerel, smoked fish, breaded fish baked in fat, canned tuna in oil, fish fingers baked in fat or in an oven | |
Eggs and Egg Dishes | ||
maximum two egg yolks (eggs) per week (consider processed eggs in other food products) | Eggs fried in fat, scrambled eggs with bacon or sausage, ham and eggs | |
Fats and Oils | ||
MCT–oil and walnut oil (soybean oil) – according to the diet plan, MCT–margarine according to the diet plan | Margarine, butter, mayonnaise, cooking oil | |
Cakes, Sweets and Snacks | ||
(Whole grain) rice waffles, chewing gum, homemade ice pops made of fruit juice | Low–fat yeast dough with fruit, sponge cake, yeast plaits, ladyfingers, fruit gums, candies, chewy candies, lollipops, marshmallows and foamy sugar, sorbet, pretzel sticks etc. | Pies with whipped cream, biscuits, butter biscuits, muesli bars, sponge cake, pastry, donuts, waffles, chocolate bars, chocolate, ice cream, milk ice cream, milk–based fruit ice cream, chips, peanut flips, crackers |
Convenience Food and Fast Food | ||
Salads with low–fat dressing (max. 0.5% fat in 100 g) or marinated with MCT–oil, fruit puree and vegetable puree (“quetschies”) without added fat, smoothies without nuts, seeds and added fat | Instant soup and convenience food up to 1% fat | Hamburger, cheeseburger, Big Mac, McChicken, etc., gyros, doner kebab, crepes, pizzas with salami or bacon, chicken nuggets, hot dogs, ready–to–eat sauces with mayonnaise |
Age–Appropriate Portion Sizes | |
---|---|
Food Groups | Household Size or Child’s Hand to Determine 1 Portion size |
Beverages | 1 glass |
Bread/Cereals | 1 slices bread/2 hands full cereals |
Vegetables | 1–2 hands full |
Fruits | 1–2 hands full |
Potato and Potato products | 2 hands full |
Milk and dairy products a | |
Milk | 1 glass |
Yoghurt | 1 cup |
Cheese | 1 slice |
Meat/Sausage products b | 1 palm of the child’s hand meat/1–3 slices of sausages |
Eggs | 1–2 eggs |
Fish | 1 palm of the child’s hand |
Oil/Margarine/Butter/Spreads | 1.5–2 table spoons |
Spices | 1–2 tea spoons |
Cakes, Sweets/Snacks | 1 piece cake, sweets/1 hand full snacks |
Patient 1, Female | Visit 1 | Visit 2 | Visit 3 | Visit 4 | Visit 5 | Visit 6 |
---|---|---|---|---|---|---|
Patients Characteristics | ||||||
Age (months) | 1.6 | 2.0 | 58.2 | 69.0 | 99.3 | 169.0 |
Age (years) | 0.1 | 0.2 | 4.8 | 5.8 | 8.3 | 14.2 |
Height (cm) | 55.0 | 58.0 | 104.0 | 108.9 | 122.4 | 157.1 |
Weight (kg) | 3.7 | 4.1 | 15.3 | 17.0 | 22.1 | 39.4 |
BMI (kg/m2) | 12.2 | 12.0 | 14.0 | 14.2 | 14.7 | 16.0 |
Blood Parameters | ||||||
Triglycerides (mg/dL) | 9859 | 290 | 1282 | 336 | 847 | 1866 |
Total cholesterol (mg/dL) | 749 | 150 | 144 | 90 | 131 | 165 |
FCS clinical manifestations | Hypertriglyceridemia Pancreatitis Splenomegaly Cholecystitis | Hyper- triglyceridemia | Hyper- triglyceridemia | Hyper- triglyceridemia | Hyper- triglyceridemia | Hypertriglyceridemia Hepatomegaly Splenomegaly Gallbladder stone without cholecystitis Pancreas atrophy |
Pharmacological therapy | Bezafibrate 400 mg Ursodeoxycholic acid 500 mg | |||||
Nutrients Energy Percentage (%) | ||||||
Fat (%) | 47.7 | 14.6 | 27.2 | 26.0 | 25.8 | 32 |
Protein (%) | 10.8 | 12.9 | 22.2 | 19.1 | 14.5 | 20.0 |
Carbohydrate (%) | 41.5 | 72.3 | 49.0 | 53.2 | 57.6 | 46.6 |
Energy (kcal) | 317 | 590 | 776 | 998 | 1366 | 1277 |
Energy (kcal/kg BW) | 86 | 145 | 50 | 59 | 62 | 32 |
Fat (g) | 16.8 | 9.6 | 23.6 | 28.9 | 39.2 | 45.5 |
Protein (g) | 8.6 | 18.9 | 43.0 | 47.8 | 49.6 | 64.1 |
Carbohydrate (g) | 32.9 | 106.7 | 93.9 | 132.8 | 196.8 | 148.9 |
MCT (g) | 8.6 | 2.3 | 0.03 | 3.8 | 7.6 | 3.9 |
LCT (g) | 7.6 | 7.3 | 23.4 | 25.0 | 31.5 | 41.6 |
n3-FA (g) | 0.03 | 0.73 | 6.49 | 6.24 | 6.27 | 2.8 |
n6-FA (g) | 2.3 | 1.5 | 3.6 | 5.3 | 5.1 | 6.8 |
PUFA (g) | 2.9 | 2.2 | 10.1 | 11.5 | 11.4 | 9.6 |
Comments on nutrition | Prior to diagnosis: breastfeeding ad libitum than changed to formula feeding (481 g Aptamil Pregomin standard concentration 12.8%) | 135 g fat-free formula (basicF powder, Milupa) 15%, 6 g essential FA 3 g MCT-oil (MCT basis plus) | 6 g omega 3 FA capsules (Omacor) 8 g essential FA | Low-fat age- appropriated nutrition 24 g Maltodextrin 6 g omega 3 FA capsules (Omacor) 5 g MCT-oil (MCT basis plus oil) 6 g essential FA | Low-fat nutrition 30 g maltodextrin 10 g MCT-oil 6 g omega 3 FA capsules (Omacor) 5 g vitamin and micronutrients supplement (Metax Advit—corresponding to half of the daily vitamin and micronutrient requirement) 6 g essential FA | 2 g omega 3 FA capsules (Omacor) 5 g MCT-oil 5 g vitamin and micronutrients supplement (Metax Advit—corresponding to half of the daily vitamin and micronutrient requirement) |
Patient 2, Male | Visit 1 | Visit 2 | Visit 3 | Visit 4 | Visit 5 | Visit 6 |
---|---|---|---|---|---|---|
Patients Characteristics | ||||||
Age (months) | 1.0 | 1.0 | 1.0 | 2.0 | 6.8 | 72 |
Age (years) | 0.08 | 0.1 | 0.1 | 0.2 | 0.6 | 6 |
Height (cm) | 54.0 | 54.0 | 54.0 | 58.0 | 69.0 | 117.4 |
Weight (kg) | 3.8 | 3.8 | 4.0 | 5.1 | 8.4 | 19.5 |
BMI (kg/m2) | 13.0 | 13.0 | 13.7 | 15.1 | 17.5 | 14.1 |
Blood Parameters | ||||||
Triglycerides (mg/dL) | 31,012 | 5001 | 1104 | 587 | 828 | 1668 |
Total cholesterol (mg/dL) | 1402 | 1193 | 200 | 108 | 249 | |
FCS clinical manifestations | Abdominal pain Bloody stool Hypertriglyceridemia Hepatomegaly Splenomegaly Steatosis hepatis Choleocystitis | Hyper- triglyceridemia Cholecystitis Steatosis hepatis | Hyper- triglyceridemia Steatosis hepatis | Hyper- triglyceridemia | Hyper- triglyceridemia | Hyper- triglyceridemia Hepatomegaly |
Pharmacological therapy | Colecalciferol drops | Colecalciferol drops | Colecalciferol drops | Colecalciferol drops | Bezafibrate 100 mg | |
Nutrients Energy Percentage (%) | ||||||
Fat (%) | 48.5 | 3.2 | 20 | 20.5 | 13.3 | 9.5 |
Protein (%) | 6.9 | 14.5 | 11.6 | 11.6 | 12.4 | 21.7 |
Carbohydrate (%) | 43.7 | 81.7 | 68.0 | 67.5 | 73.1 | 67.0 |
Energy (kcal) | 414.0 | 309.0 | 423.3 | 539.2 | 827.8 | 1222 |
Energy (kcal/kg BW) | 109 | 81 | 106 | 106 | 98 | 63 |
Fat (g) | 22.3 | 1.1 | 9.4 | 12.3 | 12.1 | 12.9 |
Protein (g) | 7.2 | 11.2 | 12.3 | 15.7 | 25.5 | 66.2 |
Carbohydrate (g) | 45.2 | 63.1 | 72.0 | 91.0 | 151.2 | 204.6 |
MCT (g) | 1.44 | 0.05 | 2.52 | 4.75 | 4.59 | 0.52 |
LCT (g) | 20.9 | 1.05 | 6.88 | 7.56 | 7.62 | 12.4 |
n3-FA (g) | 0.37 | 0.012 | 0.31 | 0.41 | 0.53 | 0.76 |
n6-FA (g) | 0.12 | 0.004 | 1.09 | 1.61 | 2.37 | 3.80 |
PUFA (g) | 2.8 | 0.1 | 2.1 | 2.6 | 3.5 | 4.6 |
Comments on nutrition | 600 mL breastfeeding ad libitum | 20 mL human milk and 78 g fat-free formula (basicF powder, Milupa) | 100 mL human milk 78 g fat-free formula (basicF powder, Milupa) 5 mL MCT emulsion (Liquigen Nutricia) 4 g omega FA (Key Omega Vitaflo) 2 g essential FA | 80 mL human milk 104 g fat-free formula (basicF powder, Milupa) 10 mL MCT emulsion (Liquigen Nutricia) 4 g omega FA (Key Omega Vitaflo) 3 g essential FA | 473 g fat-free formula (basicF powder, Milupa, 13% standard concentration) 47 g Beba HA Start Pre 6 ml MCT emulsion (Liquigen Nutricia) 4 g omega FA (Key Omega Vitaflo) 3 g essential FA and age-appropriated complementary feeding | According to the recommendations no omega 3 substitution, strictly low-fat diet 4 g essential FA |
Patient 3, Male | Visit 1 | Visit 2 | Visit 3 | Visit 4 | Visit 5 | Visit 6 |
---|---|---|---|---|---|---|
Patients Characteristics | ||||||
Age (months) | 20.6 | 22.5 | 27.9 | 35.2 | 42.7 | 88.0 |
Age (years) | 1.7 | 1.9 | 2.3 | 2.9 | 3.6 | 7.4 |
Height (cm) | 82.0 | 83.0 | 86.0 | 91.0 | 92.6 | 114.7 |
Weight (kg) | 8.3 | 8.8 | 9.4 | 10.0 | 10.9 | 16.4 |
BMI (kg/m2) | 12.4 | 12.7 | 12.7 | 12.0 | 12.7 | 12.5 |
Blood Parameters | ||||||
Triglycerides (mg/dL) | 2417 | 265 | 318 | 1796 | 1633 | 1358 |
Total cholesterol (mg/dL) | 176 | 129 | 119 | 171 | 180 | 176 |
FCS clinical manifestations | Eruptive xanthomas Hypertriglyceridemia Hepatomegaly Splenomegaly Steatosis hepatis | Hypertriglyceridemia Steatosis hepatis | Hypertriglyceridemia Steatosis hepatis | Hypertriglyceridemia Steatosis hepatis | Hypertriglyceridemia Steatosis hepatis | Hypertriglyceridemia Steatosis hepatis Minimal increased IMT thickness in the area of arteria carotis communis on both sides |
Pharmacological therapy | Colecalciferol drops | |||||
Nutrients Energy Percentage (%) | ||||||
Fat (%) | 32.8 | 10.4 | 24.7 | 24.7 | 23.7 | 22.4 |
Protein (%) | 13.0 | 17.5 | 14.8 | 12.6 | 11.4 | 17.3 |
Carbohydrate (%) | 52.4 | 70.2 | 58.4 | 51.5 | 62.7 | 58.5 |
Energy (kcal) | 942 | 939 | 1073 | 1262 | 1114 | 1361 |
Energy (kcal/kg BW) | 113 | 107 | 114 | 126 | 102 | 83 |
Fat (g) | 34.3 | 10.8 | 29.5 | 34.6 | 29.3 | 33.9 |
Protein (g) | 30.6 | 41.1 | 39.8 | 39.8 | 31.8 | 58.9 |
Carbohydrate (g) | 123.3 | 164.6 | 156.6 | 194.0 | 174.6 | 198.9 |
MCT (g) | 0.03 | 0.04 | 14.8 | 6.6 | 10.8 | 18.0 |
LCT (g) | 34.3 | 10.8 | 14.7 | 28.0 | 18.5 | 15.9 |
n3-FA (g) | 30.2 | 1.4 | 0.9 | 1.0 | 0.7 | 0.9 |
n6-FA (g) | 7.9 | 2.8 | 3.7 | 5.3 | 4.6 | 4.0 |
PUFA (g) | 11.5 | 4.2 | 10.6 | 12.3 | 5.3 | 4.8 |
Comments on nutrition | Prior to diagnosis 100 g formula (HA Combiotik) 3 g omega 3 FA capsules (Arteriomed) 6 g essential FA | 45 g maltodextrin 1 g omega 3 fish oil 3 g essential FA | 8 g MCT-oil (Nutricia) 1 g omega 3 fish oil 10 g MCT margarine 4 g essential FA | 5 g MCT-oil (Nutricia) 1 g omega 3 fish oil 5 g essential FA | 10 g MCT-oil (Nutricia) 2 g MCT powder (MCT Procal vitaflo) 2 g essential FA | 15 g MCT-oil (Nutricia) 5 g essential FA |
Patient 4, Female | Visit 1 | Visit 2 | Visit 3 | Visit 4 | Visit 5 | Visit 6 |
---|---|---|---|---|---|---|
Patients Characteristics | ||||||
Age (months) | 2.0 | 2.5 | 56.3 | 147.6 | 162.0 | 218.0 |
Age (years) | 0.2 | 0.2 | 4.7 | 12.3 | 13.7 | 18.0 |
Height (cm) | 52.0 | 52.0 | 112.4 | 174.0 | 178.5 | 178.6 |
Weight (kg) | 5.6 | 6.1 | 20.9 | 61.5 | 76.2 | 76.5 |
BMI (kg/m2) | 20.6 | 22.5 | 16.5 | 20.3 | 23.9 | 24.0 |
Blood Parameters | ||||||
Triglycerides (mg/dL) | 32,148 | 9540 | 1242 | 1138 | 953 | 1251 |
Total cholesterol (mg/dL) | 1704 | 1130 | 169 | 197 | 131 | 239 |
FCS clinical manifestations | Bloody stool Lipemia retinalis Hypertriglyceridemia Hepatomegaly | Hypertriglyceridemia | Hypertriglyceridemia | Hypertriglyceridemia | Hypertriglyceridemia | Hypertriglyceridemia Splenomegaly |
Pharmacological therapy | Bezafibrate 200 mg Colecalciferol drops | Bezafibrate 400 mg | ||||
Nutrients Energy Percentage (%) | ||||||
Fat (%) | 48.5 | 29.0 | 23.0 | 11.4 | 13.8 | 13.0 |
Protein (%) | 7.0 | 10.1 | 22.2 | 27.9 | 13.0 | 15.2 |
Carbohydrate (%) | 43.7 | 60.4 | 54.0 | 57.2 | 71.2 | 69.7 |
Energy (kcal) | 414 | 629 | 1021 | 1833 | 1641 | 1399 |
Energy (kcal/kg BW) | 74 | 103 | 49 | 29 | 22 | 18 |
Fat (g) | 22.3 | 20.3 | 26.1 | 23.3 | 25.1 | 20.3 |
Protein (g) | 7.2 | 15.8 | 56.7 | 127.7 | 53.2 | 53.1 |
Carbohydrate (g) | 45.2 | 95.0 | 137.9 | 261.9 | 292.1 | 243.9 |
MCT (g) | 1.44 | 10.84 | 0.01 | 0.12 | 0.90 | 0.6 |
LCT (g) | 20.9 | 9.5 | 26.1 | 19.8 | 24.2 | 19.7 |
n3-FA (g) | 0.37 | 0.12 | 1.42 | 4.24 | 0.66 | 1.91 |
n6-FA (g) | 0.12 | 0.12 | 4.79 | 3.74 | 8.32 | 5.44 |
PUFA (g) | 2.8 | 2.6 | 9.4 | 8.0 | 8.9 | 7.3 |
Comments on nutrition | 600 mL breastfeeding ad libitum | 100 g formula with primary MCT (Monogen Nutricia powder) 30 g standard formula (Milupa, powder) 10 g maltodextrin | 1 g omega 3 FA capsules (Omacor) | 4 g omega 3 FA capsules (Omacor) | Vegan diet | Vegan diet |
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Thajer, A.; Skacel, G.; de Gier, C.; Greber-Platzer, S. The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study. Children 2021, 8, 1078. https://doi.org/10.3390/children8111078
Thajer A, Skacel G, de Gier C, Greber-Platzer S. The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study. Children. 2021; 8(11):1078. https://doi.org/10.3390/children8111078
Chicago/Turabian StyleThajer, Alexandra, Gabriele Skacel, Charlotte de Gier, and Susanne Greber-Platzer. 2021. "The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study" Children 8, no. 11: 1078. https://doi.org/10.3390/children8111078