Table 1.
Presenting clinical signs and co‐variables in early type 1 GD
| Round 2 | Round 3 | ||||||
|---|---|---|---|---|---|---|---|
| Importance score (Likert scale: 1–5)† | Agreement score (Likert scale: 1–5)‡ | ||||||
| Mean score | Median score | Respondents (%)§ | Mean score | Median score | Respondents (%)§ | ||
| Clinical signs | |||||||
| Major | Splenomegaly | 4.77 | 5 | 100 | 4.86 | 5 | 100 |
| Thrombocytopenia | 4.45 | 5 | 95 | 4.68 | 5 | 91 | |
| Bone issues including pain, crises, AVN and fractures | 4.00 | 4 | 91 | 4.45 | 5 | 91 | |
| Anaemia | 3.77 | 4 | 95 | 4.05 | 4 | 86 | |
| Hepatomegaly | 3.68 | 3.5 | 95 | 3.95 | 4 | 77 | |
| Elevated ferritin levels | 3.50 | 4 | 82 | 4.05 | 4 | 86 | |
| Gammopathy – monoclonal or polyclonal | 3.23 | 3 | 82 | 3.64 | 4 | 73 | |
| Minor | Bleeding, bruising or coagulopathy | 3.59 | 4 | 86 | 3.68 | 4 | 64 |
| Elevated serum angiotensin‐converting enzyme levels | 3.18 | 3.5 | 64 | — | — | — | |
| Growth retardation including low body weight | 3.00 | 3 | 73 | — | — | — | |
| Low bone mineral density | 2.95 | 3 | 59 | — | — | — | |
| Fatigue | 2.82 | 3 | 64 | — | — | — | |
| Asthenia | 2.59 | 2.5 | 50 | — | — | — | |
| Leukopenia | 2.50 | 3 | 55 | — | — | — | |
| Gallstones | 2.32 | 2 | 45 | — | — | — | |
| Dyslipidaemia | 2.27 | 2 | 36 | — | — | — | |
| Discounted | Neonatal cholestasis | 1.73 | 2 | 9 | — | — | — |
| Elevated bilirubin levels | 1.68 | 1.5 | 14 | — | — | — | |
| Co‐variables | |||||||
| Major | Family history of GD | 4.27 | 4.5 | 95 | 4.45 | 5 | 91 |
| Jewish ancestry | 3.91 | 4 | 86 | 4.18 | 4 | 86 | |
| Minor | Family history of PD | 3.14 | 3 | 73 | — | — | — |
Signs and co‐variables that did not meet the threshold for importance (a score of ≥3 by >75% of respondents) were classified as minor and not taken forward to round 3 for agreement rating. Signs and co‐variables that met the threshold for agreement in round 3 (a score of ≥4 by >67% of respondents) were classified as major; any that did not meet this threshold were classified as minor. Certain low‐scoring signs were discounted as being of little relevance in early type 1 GD.
The Likert scale used for importance rating in round 2 was: 1 = not important; 2 = slightly important; 3 = important; 4 = very important; 5 = extremely important.
The Likert scale used for agreement rating in round 3 was: 1 = strongly disagree; 2 = disagree; 3 = neither agree nor disagree; 4 = agree; 5 = strongly agree.
Percentage of respondents (n = 22) is the proportion awarding a Likert scale score that met the selection criteria in each round.
AVN, avascular necrosis; GD, Gaucher disease; PD, Parkinson disease.