Table 1.
Clinical and Biological Expressions of Chylomicron Retention Disease in Studies with Genotyping
| Clinical signs | Age at onset of symptoms | Transient or permanent symptoms | Prevalence in childhood | Power of discrimination |
|---|---|---|---|---|
| Anthropometry | ||||
| Failure to thrive | Infancy (1 to 6 m) | transient if low LCFA diet | 80% | + |
| Gastrointestinal symptoms and signs | ||||
| Diarrhea | Infancy (1 to 6 m) | transient if low LCFA diet | 100% | + |
| Vomiting | Infancy (1 to 6 m) | transient if low LCFA diet | 60% | + |
| Abdominal distension | Infancy (1 to 6 m) | transient if low LCFA diet | 65% | + |
| Hepatomegaly, Steatosis | Infancy or late childhood | transit or permanent | 15% | |
| Neurology | ||||
| Retinopathy | Adult | permanent | 100% | +++ |
| Visual abnormalities | Late childhood or adult (6 to 10 y) | transient if early treatment | 30% | + |
| Hypo or Areflexia | Late childhood or adult (4 to 10 y) | permanent | 5% | + |
| Myopathy | Adult | permanent | 0% | + |
| EMG abnormalities | Late childhood or adult (4 to 10 y) | transient if early treatment | 25% | + |
| Decreased proprioception | Late childhood or adult (4 to 10 y) | transient if early treatment | 0% | + |
| Cardiomyopathy/Biological signs | Adult | permanent? | 0% | + |
| Normal TG§ | Infancy (1 to 6 m) | transit or permanent | 90% | +++ |
| Low Total cholesterol§§ | Infancy (1 to 6 m) | permanent | 100% | moderate decrease ++ |
| Low LDL† | Infancy (1 to 6 m) | permanent | 100% | moderate decrease ++ |
| Low HDL†† | Infancy (1 to 6 m) | permanent | 100% | +++ |
| Normal Fasting lipids in parents | 100% | + | ||
| High CK (N < 100 mmol/L) | Infancy (1 to 6 m) - (460 ± 100) | permanent | 60% | +++ |
| Hepatic cytolysis (ALT < 40 mmol/L) | Infancy to late childhood - (60 ± 20) | transient or permanent | 95% | + |
| Vitamin E deficiency (N > 18.4 μmol/L) | Infancy (1 to 6 m) - (2.7 ± 0.3) | permanent | 95% | + |
| Vitamin A deficiency (N > 1.61 μmol/L) | Infancy (1 to 6 m) - (0.8 ± 0.5) | transit if supplementation | 70% | + |
| Vitamin D deficiency (N > 50 nmol/L) | Infancy (1 to 6 m) - (31 ± 17) | transit if supplementation | 45% | + |
| Vitamin K deficiency (N > 2.26 mmol/L) | Infancy (1 to 6 m) - (1.15 ± 0.6) | transit if supplementation | 45% | + |
| Steatorrhea (N < 5 g/d) | Infancy (1 to 6 m) - (7.5 ± 3.6) | transit or permanent | 85% | + |
| Negative Oral Fat Load | Infancy (1 to 6 m) | Permanent ? | 100% | + |
| No acantocytosis | Infancy (1 to 6 m) | transit or permanent | 90% | +++ |
| EFA deficiency* (20:3n-9/20:4n-6) | Infancy to late childhood | permanent but variations | 55% | + |
| Endoscopic and histological signs | ||||
| White duodenal mucosa | Infancy (1 to 6 m) | permanent? Fat load dependent | 100% | ++ |
| Enterocyte vacuolization, chylomicron-like | Infancy (1 to 6 m) | permanent? Fat load dependent | 100% | ++ |
+: no; ++: few; +++: highly discriminative; N: normal
§ X value (mmol/L) is the same in CRD as in controls (0.73)
§§ X value (mmol/L) is decreased by 60% in CRD (1.49 ± 0.56) vs controls (3.73 ± 0.80)
† X value (mmol/L) is decreased by 75% in CRD (0.69 ± 0.38) vs controls (2.33 ± 0.64)
†† X value (mmol/L) is decreased by 5% in CRD (0.46 ± 0.08) vs controls (1.07 ± 0.22)
*X ratio in CRD is 0.04 ± 0.02 and 0.01 ± 0.005 in controls