Table 3

Treatment initiation in different patient groups and scenarios

ScenarioMales aged <16 years with classical FDMales aged ≥16 years with classical FDFemales with classical FDMales with non-classical FDFemales with non-classical FD
Asymptomatic for organ involvement
Likelihood of starting treatment
 Mean (median) score5.4 (5)7.1 (8)2.8 (2)3.3 (2)1.6 (1)
AgreementDo not start treatmentStart treatmentDo not start treatmentStart treatmentDo not start treatmentStart treatmentDo not start treatmentStart treatmentDo not start treatmentStart treatment
 Mean (median) score2.5 (2)  4.2 (4)3.2 (3) 3.2 (4) 3.8 (4) 
 Score ≥4, n (%)5 (23.8)  18 (85.7)10 (47.6) 11 (52.4) 15 (71.4) 
Early indicators of organ involvement
Likelihood of starting treatment
Mean (median) score7.6 (8)8.6 (10)6.6 (7)6.6 (7)5.3 (5)
AgreementDo not start treatmentStart treatmentDo not start treatmentStart treatmentDo not start treatmentStart treatmentDo not start treatmentStart treatmentDo not start treatmentStart treatment
 Mean (median) score 4.4 (5) 4.8 (5)1.7 (2) 1.7 (2) 2.1 (2) 
 Score ≥4, n (%) 19 (90.5) 21 (100)0 (0) 1 (4.8) 2 (9.5) 
Guideline indicators for FD-specific treatment initiation
Likelihood of starting treatment
 Mean (median) score9.4 (10)9.7 (10)9.4 (10)9.1 (10)8.5 (10)
AgreementDo not start treatmentStart treatmentDo not start treatmentStart treatmentDo not start treatmentStart treatmentDo not start treatmentStart treatmentDo not start treatmentStart treatment
 Mean (median) score 4.5 (5) 4.6 (5) 4.6 (5) 4.3 (4) 4.1 (4)
 Score ≥4, n (%) 20 (95.2) 20 (95.2) 20 (95.2) 19 (90.5) 16 (76.2)

  • Where the median likelihood score awarded for starting treatment was ≥7.5 in round 1, panellists were asked in round two to rate their level of agreement with starting treatment. Where the median likelihood score awarded for starting treatment was <7.5 in round 1, panellists were asked in round two to rate their level of agreement with not starting treatment.

  • Green shading: consensus that FD-specific treatment should be initiated. Orange shading: consensus that FD-specific treatment should not be initiated. No shading: no consensus was achieved. n=21.

  • FD, Fabry disease.