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Table 2 Patients' characteristics

From: Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

  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  
  1. NG nasogastric, FU follow-up, LCFA long-chain fatty acids, MCT medium-chain triglycerides, CVAD central venous access device, n.a. not applicable, PVC peripheral venous catheter