Fast Facts: Familial Chylomicronemia Syndrome
M.H. Davidson, L. Benes, A.S. Wierzbicki
- 72 pages
- English
- ePUB (mobile friendly)
- Available on iOS & Android
Fast Facts: Familial Chylomicronemia Syndrome
M.H. Davidson, L. Benes, A.S. Wierzbicki
About This Book
'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: • Terminology, etiology and pathophysiology • Diagnosis • Complications • Management and prevention • Research directions
Frequently asked questions
Information
4 | Management and prevention |
FCS population | Management recommendation |
All populations | •Establish a multidisciplinary healthcare team to manage FCS and develop an individualized treatment plan •Eat a very-low-fat diet: < 20 g fat per day or < 10–15% daily caloric intake •Avoid alcohol •Avoid drugs known to increase TG levels •Measure plasma TG levels on a routine basis |
Episodes of acute pancreatitis | •Hydrate patients with intravenous fluids •Once attack has subsided, slowly reintroduce very-low-fat diet •Consider insulin therapy in hyperglycemic patients •Some experts recommend a low threshold to initiate plasmapheresis or plasma exchange until serum TG is > 5.65–11.3 mmol/L (500–1000 mg/dL); there are small risks associated with this, including transfusion reaction if plasma products are given back during plasma exchange |
Diabetes | •Control blood sugar; insulin is usually necessary due to pancreatic insufficiency •Check levels of vitamins A, E, K and D regularly |
Pregnancy | •Maintain fasting plasma TG levels at < 5.65 mmol/L (500 mg/dL) •Limit fat intake to < 2 g/day from weeks 13 to 40 of pregnancy •Use supplements to promote preferential intake of medium-chain fatty acids* •Maintain adequate hydration and electrolyte balance |
Pregnancy and diabetes | •Control blood glucose and TG levels •Monitor TG levels weekly •Check for eruptive xanthomas and lipemia retinalis |
Pediatrics | •Limit fat to < 15% of total daily caloric intake •Use supplements to promote preferential intake of medium-chain TGs* •Feed infants (0–12 months) a low light-chain/high medium-chain fatty acid formula or skim and fortified expressed breast milk* •Transition 1–2 year olds to skim milk and age-appropriate low-fat solid foods •Monitor growth using age-appropriate charts •Re-evaluate diet at each developmental stage and adjust for age and growth |
Psychosocial | •Psychological and nutritional counseling •Connect 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 |
•Daily fat intake 10–15% of total calories •Eat fat-free or low-fat protein at each meal or snack •Limit total carbohydrates; limit simple carbohydrates •Eat small frequent meals and snacks •Increase water intake •Supplement fat-soluble vitamins (A, D, E, K), as needed | •White fish, some seafood, poultry and lean cuts of meat •Vegetables •Whole grains •Legumes/pulses •Fat-free milk •Fat-free low-sugar dairy products •Fruit •Water | •Alcohol •Simple sugars •Fruit juices |