|
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
| |
