Fast Facts: Familial Chylomicronemia Syndrome
M.H. Davidson, L. Benes, A.S. Wierzbicki
- 72 pages
- English
- ePUB (adapté aux mobiles)
- Disponible sur iOS et Android
Fast Facts: Familial Chylomicronemia Syndrome
M.H. Davidson, L. Benes, A.S. Wierzbicki
Ă propos de ce livre
'Familial chylomicronemia syndrome' (FCS) is an ultra-rare genetic disorder characterized by the abnormal build-up of chylomicrons, the largest type of lipoprotein, which transport dietary fat from the gut to the rest of the body. Patients with FCS often experience severe symptoms, the most feared of which is acute, potentially life-threatening, pancreatitis. This resource is intended to raise awareness of FCS among all members of the healthcare team who come into contact with patients with FCS, with the aim of earlier diagnosis and management, thus preventing some of the more devastating physical, neurological and cognitive symptoms of the disorder. Table of Contents: âą Terminology, etiology and pathophysiology âą Diagnosis âą Complications âą Management and prevention âą Research directions
Foire aux questions
Informations
4 | Management and prevention |
FCS population | Management recommendation |
All populations | âąEstablish a multidisciplinary healthcare team to manage FCS and develop an individualized treatment plan âąEat a very-low-fat diet: < 20 g fat per day or < 10â15% daily caloric intake âąAvoid alcohol âąAvoid drugs known to increase TG levels âąMeasure plasma TG levels on a routine basis |
Episodes of acute pancreatitis | âąHydrate patients with intravenous fluids âąOnce attack has subsided, slowly reintroduce very-low-fat diet âąConsider insulin therapy in hyperglycemic patients âąSome experts recommend a low threshold to initiate plasmapheresis or plasma exchange until serum TG is > 5.65â11.3 mmol/L (500â1000 mg/dL); there are small risks associated with this, including transfusion reaction if plasma products are given back during plasma exchange |
Diabetes | âąControl blood sugar; insulin is usually necessary due to pancreatic insufficiency âąCheck levels of vitamins A, E, K and D regularly |
Pregnancy | âąMaintain fasting plasma TG levels at < 5.65 mmol/L (500 mg/dL) âąLimit fat intake to < 2 g/day from weeks 13 to 40 of pregnancy âąUse supplements to promote preferential intake of medium-chain fatty acids* âąMaintain adequate hydration and electrolyte balance |
Pregnancy and diabetes | âąControl blood glucose and TG levels âąMonitor TG levels weekly âąCheck for eruptive xanthomas and lipemia retinalis |
Pediatrics | âąLimit fat to < 15% of total daily caloric intake âąUse supplements to promote preferential intake of medium-chain TGs* âąFeed infants (0â12 months) a low light-chain/high medium-chain fatty acid formula or skim and fortified expressed breast milk* âąTransition 1â2 year olds to skim milk and age-appropriate low-fat solid foods âąMonitor growth using age-appropriate charts âąRe-evaluate diet at each developmental stage and adjust for age and growth |
Psychosocial | âąPsychological and nutritional counseling âąConnect to support groups, patient organizations and websites for support and to maintain social connections |
*Medium-chain TGs are metabolized through a chylomicron-independent pathway.2 |
Multidisciplinary healthcare team
Dietary management
Dietary recommendations | Foods to eat | Foods to avoid |
âąDaily fat intake 10â15% of total calories âąEat fat-free or low-fat protein at each meal or snack âąLimit total carbohydrates; limit simple carbohydrates âąEat small frequent meals and snacks âąIncrease water intake âąSupplement fat-soluble vitamins (A, D, E, K), as needed | âąWhite fish, some seafood, poultry and lean cuts of meat âąVegetables âąWhole grains âąLegumes/pulses âąFat-free milk âąFat-free low-sugar dairy products âąFruit âąWater | âąAlcohol âąSimple sugars âąFruit juices |