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Table 2 Characteristics used to calculate GED-C scores in patients with GD and control patients: database 1

From: Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data

Weighting

Characteristic

Patients with GD, n (%)

n = 265

Controls, n (%)

n = 3445

OR (95% CI)

3 points

Splenomegaly

135 (50.9)

44 (1.3)

80.3 (54.7–117.7)

2 points

Thrombocytopenia (platelet count 50–150 × 109/L)

107 (60.5) [177 samples]

175 (10.0) [1750 samples]

13.7 (9.8–19.3)

Bone issues

150 (56.6)

1564 (45.4)

1.6 (1.2–2.0)

Anemia (Hb 9.5–14.0 g/dL)

147 (83.0) [177 samples]

1362 (77.8) [1750 samples]

1.4 (0.9–2.1)

Hyperferritinemia (ferritin 300–1000 ng/mL)

45 (41.7) [108 samples]

20 (2.4) [829 samples]

28.9 (16.1–51.9)

Gammopathy (IgG, IgM, IgA, and IgE)a (> normal range)

29 (40.8) [71 samples]

56 (16.4) [342 samples]

3.5 (2.0–6.1)

Jewish ancestry

257 (98.1) [262 samples]

3140 (92.4) [3397 samples]

4.5 (1.8–11.0)

1.5 points

Hepatomegalyb

52 (19.6)

90 (2.6)

9.1 (6.3–13.1)

1 point

Thrombocytopenia (platelet count < 50 × 109/L)

11 (6.2) [177 samples]

2 (0.11) [1750 samples]

57.9 (12.7–263.0)

Anemia (Hb < 9.5 g/dL)

16 (9.0) [177 samples]

50 (2.8) [1750 samples]

3.4 (1.9–6.0)

Hyperferritinemia (ferritin > 1000 ng/mL)

4 (3.8) [104 samples]

1 (0.1) [829 samples]

33.1 (3.7–299.0)

0.5 points

Gallstones

28 (10.6)

119 (3.5)

3.3 (2.1–5.1)

Bleeding

69 (26.0)

563 (16.3)

1.8 (1.4–2.4)

Leukopenia (WBC < normal range)

26 (14.7) [177 samples]

82 (4.7) [1750 samples]

3.5 (2.2–5.6)

Low bone marrow density

64 (24.2)

242 (7.0)

3.5 (2.6–4.7)

Growth retardationc

124 (46.8)

918 (26.6)

2.4 (1.9–3.1)

Fatigued

85 (32.0)

633 (18.4)

2.1 (1.6–2.7)

Dyslipidemia (HDL cholesterol < 35 mg/dL)

81 (61.4) [132 samples]

199 (15.2) [1308 samples]

8.9 (6.0–13.0)

Elevated ACE (> normal range)

12 (80.0) [15 samples]

3 (27.3) [11 samples]

10.7 (1.7–66.7)

Age at diagnosis < 18 years

50 (18.9)

685 (19.9)e

–

  1. ACE angiotensin-converting enzyme, GD Gaucher disease, GED-C Gaucher early diagnosis consensus, Hb hemoglobin, HDL high-density lipoprotein, Ig immunoglobulin, OR odds ratio, WBC white blood cell
  2. GED-C items not captured in this analysis: cognitive deficit, cardiovascular calcification, pulmonary infiltrates, death of relative due to fetal hydrops and/or with diagnosis of neonatal sepsis of uncertain etiology (0.5 points); disturbed motor function, myoclonus epilepsy, kyphosis, family history of GD (2 points); disturbed oculomotor function (3 points)
  3. aMonoclonal or polyclonal
  4. bCombined with mild-moderate hepatomegaly scored as 1.5 points
  5. cIncluding low body weight
  6. dCombined with asthenia
  7. eFor controls, date of diagnosis was derived from the date of diagnosis of the matched patient
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172