Table 2 Patients' characteristics
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Median (min–max) or proportion | |
|---|---|---|---|---|---|---|
Age at diagnosis (months) | 2 | 0 | 0 | 0 | 2 | 0 (0–2) |
Follow-up (months) | 120 | 83 | 37 | 84 | 14 | 83 (14–120) |
Gender | Male | Male | Female | Female | Female | |
Family history | − | + | + | + | − | 3/5 |
Clinical features at diagnosis | ||||||
Diarrhea | + | + | − | + | + | 4/5 |
Vomiting | + | + | + | − | + | 4/5 |
Failure to thrive | + | + | + | − | + | 4/5 |
Hepatomegaly | + | + | + | + | + | 5/5 |
Splenomegaly | + | − | − | + | + | 3/5 |
Biology at diagnosis | ||||||
Cytopenia | + | − | − | − | + | 2/5 |
Elevated liver enzymes | + | + | − | − | + | 3/5 |
Hypertriglyceridemia | + | − | − | − | + | 2/5 |
Hypercholesterolemia | − | − | − | − | − | 0/5 |
Radiological status | ||||||
Antenatal ultrasound anomalies | − | + | − | + | − | 2/5 |
Bilateral adrenal calcifications | + | + | + | + | + | 5/5 |
Thoracic lymphadenopathy | + | 1/1 | ||||
Abdominal lymphadenopathy | + | + | + | + | + | 5/5 |
Diet | ||||||
Low in LCFA | + | + | + | + | + | 5/5 |
Low in cholesterol | − | − | − | − | − | 0/5 |
Enriched in MCT (at diagnosis) | + | + | + | + | + | 5/5 |
Enriched in MCT (at last FU) | − | − | + | + | + | 3/5 |
NG tube (at diagnosis) | − | + | − | + | + | 3/5 |
NG tube (at last FU) | − | − | − | − | + | 1/5 |
Treatment | ||||||
Cholestyramine | + | + | + | + | + | 5/5 |
Ezetimibe | − | − | − | − | − | 0/5 |
Statine | − | − | − | − | − | 0/5 |
Fibrate | − | − | − | − | − | 0/5 |
Vitamine A | + | + | + | − | − | 3/5 |
Vitamine D | + | + | + | + | + | 5/5 |
Vitamine E | + | + | + | + | + | 5/5 |
Vitamine K | + | − | − | − | + | 2/5 |
Sebelipase alfa | ||||||
Age at first dose (months) | 4 | 1 | 0 | 1 | 2 | 1 (0–4) |
Maintenance dose (mg/kg/dose) | 5 | 3 | 3 | 3 | 5 | 3 (3–5) |
Frequency (/ X weeks) | 2 | 1 | 1 | 1 | 1 | 1 (1–2) |
Treatment duration (months) | 116 | 82 | 37 | 83 | 12 | 82 (12–116) |
Venous access | ||||||
CVAD (number) | 2 | 6 | 4 | 2 | 3 | 3 (2–6) |
Last CVAD use (month) | 65 | 66 | 26 | n.a | n.a | 65 (26–66) |
At last FU | PVC | PVC | PVC | CVAD | CVAD | |