Table 3 Chylomicron Retention Disease Follow-Up
Early Follow-Up(Annual) | |
|---|---|
Clinical | |
Anthropometry | Weight and height to draw growth curve |
Digestive | Appetite, diarrhea, abdominal distension, vomiting, hepatic size? |
Neurological | Developmental retardation, areflexia, ataxia, dysarthria, deep proprioception loss, muscular weakness or pain, cramps? |
Dietary counseling | Sufficient caloric intake, low fat diet (fat <30% total energy), EFA supplementation? |
Biological | |
Lipids | Total and LDL cholesterol, HDL-C, TG |
Hepatic | AST, ALT, GGT, total bilirubin, alkaline phosphatase? |
Vitamins | Plasma levels of vitamins A, D, E and K or INR (vit K deficiency) |
Essential Fatty Acids | Deficiency induced by low fat diet? |
Blood cell count | Anemia? |
Delayed Follow-Up(every 3 years) | |
1) After the age of 10 years | |
Hepatic | Ultranosonography (steatosis, portal hypertension, yearly), Elastometry Fibroscan®? (further studies are needed) |
Neurological exam | Clinical, creatine kinase, electromyography |
Ophthalmologic exam | Fundus, color vision, visual evoked potentials, electroretinography |
Total body composition | Bone mineral content for whole body |
2) Adult age | |
Echocardiography | Ejection fraction |