Table 1.
Diagnostic process of people living with an RD in Spain.
| Overall %(n) n = 1216 |
Cases %(n) n = 699 |
Controls %(n) n = 517 |
p Value | ||
|---|---|---|---|---|---|
| Sex | Men | 41.2 (501) | 38.9 (272) | 44.3 (229) | 0.059 |
| Women | 58.8 (715) | 61.1 (427) | 55.7 (288) | ||
| Type of RD | Musculoskeletal system and connective tissue | 9.3 (113) | 8.7 (61) | 10.1 (52) | <0.001 |
| Blood and blood-forming organs and certain disorders involving the immune mechanism | 5.1 (62) | 4.1 (29) | 6.4 (33) | ||
| Endocrine, nutritional and metabolic diseases | 8.1 (99) | 8.9 (62) | 7.2 (37) | ||
| Mental and behavioural disorders | 3.5 (43) | 5 (35) | 1.5 (8) | ||
| Diseases of the nervous system | 25.2 (307) | 28.5 (199) | 20.9 (108) | ||
| Diseases of the eye and adnexa | 16.5 (201) | 12.7 (89) | 21.7 (112) | ||
| Diseases of the circulatory system | 2.5 (31) | 2.1 (15) | 3.1 (16) | ||
| Congenital malformations, deformations and chromosomal abnormalities | 22.4 (272) | 24.3 (170) | 19.7 (102) | ||
| Others | 7.2 (88) | 5.6 (39) | 9.5 (49) | ||
| Symptom onset and medical visits | |||||
| <15 | 44.1 (535) | 47.4 (331) | 39.5 (204) | ||
| Age of symptom onset (years) | 15–29 | 18.8 (228) | 17.6 (123) | 20.3 (105) | 0.027 |
| 30–44 | 21.7 (263) | 21.3 (149) | 22.1 (114) | ||
| >45 | 15.5 (188) | 13.6 (95) | 18 (93) | ||
| Decade of symptom onset | 2010–2021 | 39.9 (484) | 32.9 (229) | 49.4 (255) | <0.001 |
| 2000–09 | 26.1 (316) | 30.3 (211) | 20.3 (105) | ||
| 1990–99 | 12.4 (150) | 12.3 (86) | 12.4 (64) | ||
| 1980–89 | 11.1 (135) | 11.5 (80) | 10.7 (55) | ||
| Until 1979 | 10.6 (128) | 13.1 (91) | 7.2 (37) | ||
| First medical visit due to symptoms | Neonates | 4 (49) | 3.4 (24) | 4.8 (25) | <0.001 |
| Primary care/paediatrics | 50.9 (618) | 58.2 (406) | 41 (212) | ||
| Specialist | 27.8 (338) | 22.5 (157) | 35 (181) | ||
| Emergencies/hospital | 15.6 (189) | 13.9 (97) | 17.8 (92) | ||
| Other | 1.7 (21) | 2 (14) | 1.4 (7) | ||
| Time from symptom onset to first medical visit | <15 days | 40.3 (486) | 38.9 (269) | 42.2 (217) | <0.001 |
| 15 days–1 month | 15.3 (185) | 13.4 (93) | 17.9 (92) | ||
| 1–6 months | 20.8 (251) | 19.8 (137) | 22.2 (114) | ||
| 6–12 months | 7.6 (92) | 8.5 (59) | 6.4 (33) | ||
| >1 year | 15.9 (192) | 19.4 (134) | 11.3 (58) | ||
| Time from first medical visit to referral to specialist | <15 days | 30.1 (304) | 21.9 (123) | 40.3 (181) | <0.001 |
| 15 days–1 month | 16.5 (167) | 11.4 (64) | 22.9 (103) | ||
| 1–6 months | 27.7 (280) | 27.9 (157) | 27.4 (123) | ||
| 6–12 months | 10.9 (110) | 14.6 (82) | 6.2 (28) | ||
| >1 year | 14.8 (150) | 24.2 (136) | 3.1 (14) | ||
| Referral time to specialist until appointment | <15 days | 29.7 (282) | 20.4 (108) | 41.5 (174) | <0.001 |
| 15 days–1 month | 18.9 (179) | 18.5 (98) | 19.3 (81) | ||
| 1–6 months | 34.5 (327) | 35.5 (188) | 33.2 (139) | ||
| 6–12 months | 10.2 (97) | 14.9 (79) | 4.3 (18) | ||
| >1 year | 6.7 (64) | 10.8 (57) | 1.7 (7) | ||
| Travel (searching for diagnosis) | |||||
| Usual hospital as first hospital for provision of healthcare | Yes | 75.1 (881) | 74.9 (511) | 75.4 (370) | 0.867 |
| No | 24.9 (292) | 25.1 (171) | 24.6 (121) | ||
| Province of first hospital and province of diagnosis | Coincide | 78.7 (918) | 72.5 (492) | 87.3 (426) | <0.001 |
| Different | 21.3 (249) | 27.5 (187) | 12.7 (62) | ||
| Travel to a different hospital or specialist | No | 42.6 (518) | 32.3 (226) | 56.5 (292) | <0.001 |
| Yes | 57.4 (698) | 67.7 (473) | 43.5 (225) | ||
| Travel within the same province | No | 62.6 (761) | 54.9 (384) | 72.9 (377) | <0.001 |
| Yes | 37.4 (455) | 45.1 (315) | 27.1 (140) | ||
| No. of journeys to same province | 1 | 17.9 (59) | 13.4 (31) | 28.3 (28) | <0.001 |
| 2–3 | 23.9 (79) | 23.4 (54) | 25.3 (25) | ||
| 4–10 | 35.5 (117) | 33.8 (78) | 39.4 (39) | ||
| >10 | 22.7 (75) | 29.4 (68) | 7.1 (7) | ||
| Travel to a different province, same AR | No | 86.7 (1054) | 84 (586) | 90.5 (468) | <0.001 |
| Yes | 13.3 (161) | 16 (112) | 9.5 (49) | ||
| No. of journeys to another province | 1 | 25.9 (28) | 16 (12) | 48.5 (16) | 0.004 |
| 2–3 | 31.5 (34) | 34.7 (26) | 24.2 (8) | ||
| 4–10 | 32.4 (35) | 36 (27) | 24.2 (8) | ||
| >10 | 10.2 (11) | 13.3 (10) | 3 (1) | ||
| Travel to another AR | No | 79.1 (961) | 73.4 (512) | 86.8 (449) | <0.001 |
| Yes | 20.9 (254) | 26.6 (186) | 13.2 (68) | ||
| No. of journeys to another AR | 1 | 34.6 (56) | 28.3 (34) | 52.4 (22) | 0.007 |
| 2–3 | 34.6 (56) | 34.2 (41) | 35.7 (15) | ||
| 4–10 | 21 (34) | 25 (30) | 9.5 (4) | ||
| >10 | 9.9 (16) | 12.5 (15) | 2.4 (1) | ||
| Travel to another country | No | 98.4 (1195) | 97.9 (683) | 99 (512) | 0.109 |
| Yes | 1.6 (20) | 2.1 (15) | 1 (5) | ||
| No. of journeys to another country | 1 | 54.5 (6) | 50 (4) | 66.7 (2) | 0.78 |
| 2–3 | 36.4 (4) | 37.5 (3) | 33.3 (1) | ||
| 4–10 | 9.1 (1) | 12.5 (1) | 0 (0) | ||
| Change of address related with search for diagnosis | Yes | 3.5 (43) | 3.1 (22) | 4.1 (21) | 0.393 |
| No | 96.5 (1173) | 96.9 (677) | 95.9 (496) | ||
| Province of symptom onset and diagnosis | Same | 76.5 (927) | 70.4 (489) | 84.9 (438) | <0.001 |
| Different | 23.5 (284) | 29.6 (206) | 15.1 (78) | ||
| AR of symptom onset and AR of diagnosis | Same | 83.8 (1015) | 78.3 (544) | 91.3 (471) | <0.001 |
| Different | 16.2 (196) | 21.7 (151) | 8.7 (45) | ||
| Specialists and tests (before diagnosis) | |||||
| No. of visits to specialists | 0–1 (Q1) | 27.3 (320) | 22.1 (151) | 34.4 (169) | <0.001 |
| 2–4 (Q2) | 22.3 (262) | 14.8 (101) | 32.8 (161) | ||
| 5–10 (Q3) | 26.2 (307) | 29.9 (204) | 21 (103) | ||
| >10 (Q4) | 24.2 (284) | 33.1 (226) | 11.8 (58) | ||
| No. of tests performed | 0–2 (Q1) | 25.4 (298) | 21 (143) | 31.6 (155) | <0.001 |
| 3–7 (Q2) | 25.6 (300) | 19.8 (135) | 33.6 (165) | ||
| 8–19 (Q3) | 24.4 (286) | 26.4 (180) | 21.6 (106) | ||
| >19 (Q4) | 24.6 (289) | 32.8 (224) | 13.2 (65) | ||
| No. of different specialists | 0 (Q1) | 18.3 (215) | 16.1 (110) | 21.4 (105) | <0.001 |
| 1–2 (Q2) | 33.5 (393) | 26.2 (179) | 43.6 (214) | ||
| 3–5 (Q3) | 23.1 (271) | 23.9 (163) | 22 (108) | ||
| >5 (Q4) | 25.1 (294) | 33.7 (230) | 13 (64) | ||
| No. of different tests performed | 0–1 (Q1) | 26.3 (308) | 22.3 (152) | 31.8 (156) | <0.001 |
| 2–3 (Q2) | 20.8 (244) | 17.9 (122) | 24.8 (122) | ||
| 4–8 (Q3) | 28.7 (337) | 28.6 (195) | 28.9 (142) | ||
| >8 (Q4) | 24.2 (284) | 31.2 (213) | 14.5 (71) | ||
| RD-related hospitalisations and surgical interventions (before diagnosis) | |||||
| Hospitalisations | No | 62.7 (735) | 56.8 (387) | 70.9 (348) | <0.001 |
| Yes | 30.7 (360) | 34.8 (237) | 25.1 (123) | ||
| Not known if RD-related | 6.6 (77) | 8.4 (57) | 4.1 (20) | ||
| Surgical interventions | No | 77.6 (909) | 72.2 (492) | 84.9 (417) | <0.001 |
| Yes | 17.9 (210) | 21.9 (149) | 12.4 (61) | ||
| Not known if RD-related | 4.5 (53) | 5.9 (40) | 2.6 (13) | ||
| Diagnosis | |||||
| Time to diagnosis from first medical visit (years) | <1 | 42.7 (735) | 100 (507) | <0.001 | |
| 1–3 | 21.7 (257) | 37.8 (258) | |||
| 4–9 | 17.2 (204) | 30 (204) | |||
| >10 | 18.4 (219) | 32.2 (219) | |||
| Age of diagnosis (years) | <5 | 32.9 (400) | 30 (210) | 36.8 (190) | 0.027 |
| 15–29 | 17.8 (216) | 17 (119) | 18.8 (97) | ||
| 30–44 | 25.9 (315) | 27.3 (191) | 24 (124) | ||
| >45 | 23.4 (285) | 25.6 (179) | 20.5 (106) | ||
| Definitive or confirmatory test of diagnosis | Analytical tests | 6.8 (83) | 6.9 (48) | 6.8 (35) | <0.001 |
| Biopsy | 11.8 (143) | 11 (77) | 12.9 (66) | ||
| Medical criterion | 10.2 (124) | 10.4 (73) | 9.9 (51) | ||
| Genetic testing | 31.5 (382) | 38.6 (270) | 21.8 (112) | ||
| Ophthalmological tests | 8.4 (102) | 5.9 (41) | 11.9 (61) | ||
| Neurology tests | 8.2 (99) | 7.9 (55) | 8.6 (44) | ||
| Radiology tests | 19.8 (240) | 16.3 (114) | 24.6 (126) | ||
| More than one test | 1.5 (18) | 1.6 (11) | 1.4 (7) | ||
| DK/NO | 1.8 (21) | 1.4 (10) | 2.1 (11) | ||
| Travel after diagnosis | |||||
| To a different hospital or specialist | Yes | 53.1 (558) | 54.7 (331) | 50.9 (227) | 0.221 |
| No | 46.9 (493) | 45.3 (274) | 49.1 (219) | ||
| Travel within the same province | Yes | 53.2 (306) | 54.5 (186) | 51.3 (120) | 0.441 |
| No | 46.8 (269) | 45.5 (155) | 48.7 (114) | ||
| No. of journeys to same province | 1 | 7.4 (20) | 7 (12) | 8 (8) | 0.971 |
| 2–3 | 23.5 (64) | 23.3 (40) | 24 (24) | ||
| 4–10 | 35.7 (97) | 36.6 (63) | 34 (34) | ||
| >10 | 33.5 (91) | 33.1 (57) | 34 (34) | ||
| Travel to different province in same AR | Yes | 21.7 (125) | 22.3 (76) | 20.9 (49) | 0.700 |
| No | 78.3 (450) | 77.7 (265) | 79.1 (185) | ||
| No. of journeys to another province | 1 | 22.1 (21) | 19.3 (11) | 26.3 (10) | 0.068 |
| 2–3 | 30.5 (29) | 35.1 (20) | 23.7 (9) | ||
| 4–10 | 33.7 (32) | 38.6 (22) | 26.3 (10) | ||
| >10 | 13.7 (13) | 7 (4) | 23.7 (9) | ||
| Travel to another AR | Yes | 43.1 (248) | 42.5 (145) | 44 (103) | 0.722 |
| No | 56.9 (327) | 57.5 (196) | 56 (131) | ||
| No. of journeys to another AR | 1 | 17.9 (32) | 16.7 (18) | 19.7 (14) | 0.577 |
| 2–3 | 36.3 (65) | 33.3 (36) | 40.8 (29) | ||
| 4–10 | 30.2 (54) | 33.3 (36) | 25.4 (18) | ||
| >10 | 15.6 (28) | 16.7 (18) | 14.1 (10) | ||
| Travel to another country | Yes | 4.5 (26) | 4.7 (16) | 4.3 (10) | 0.812 |
| No | 95.5 (549) | 95.3 (325) | 95.7 (224) | ||
| No. of journeys to another country | 1 | 82.4 (14) | 70 (7) | 100 (7) | 0.279 |
| 2–3 | 11.8 (2) | 20 (2) | 0 (0) | ||
| 4–10 | 5.9 (1) | 10 (1) | 0 (0) | ||
| Change of address as a consequence of diagnosis | Yes | 6.6 (72) | 5.8 (36) | 7.7 (36) | 0.206 |
| No | 93.4 (1015) | 94.2 (585) | 92.3 (430) | ||
| RD-related hospitalisations and operations after diagnosis | |||||
| Hospitalisations | Yes | 25.4 (267) | 23.3 (141) | 28.3 (126) | 0.149 |
| No | 72.6 (763) | 74.4 (450) | 70.2 (313) | ||
| Not known if RD-related | 2 (21) | 2.3 (14) | 1.6 (7) | ||
| Surgical interventions | Yes | 20.2 (212) | 19.3 (117) | 21.3 (95) | 0.392 |
| No | 77.6 (816) | 78 (472) | 77.1 (344) | ||
| Not known if RD-related | 2.2 (23) | 2.6 (16) | 1.6 (7) | ||
| Specialists, tests, province of follow-up and treatment after diagnosis | |||||
| No. of specialists before vs. after diagnosis | Similar | 45.1 (493) | 44.4 (276) | 46.1 (217) | 0.049 |
| More | 44.9 (490) | 43.6 (271) | 46.5 (219) | ||
| Fewer | 10 (109) | 11.9 (74) | 7.4 (35) | ||
| No. of tests before vs. after diagnosis | Similar | 36 (393) | 35.6 (221) | 36.4 (172) | 0.210 |
| More | 36.9 (403) | 35.3 (219) | 39 (184) | ||
| Fewer | 27.2 (297) | 29.1 (181) | 24.6 (116) | ||
| Change of treatment after diagnosis | Yes | 35.6 (389) | 38 (236) | 32.4 (153) | 0.095 |
| No | 28.8 (315) | 28.8 (179) | 28.8 (136) | ||
| No previous treatment | 35.6 (389) | 33.2 (206) | 38.8 (183) | ||
| Reason for change of treatment | Having a diagnosis | 50.9 (194) | 59.3 (137) | 38 (57) | <0.001 |
| Knowing the disease course of the RD | 27.3 (104) | 20.3 (47) | 38 (57) | ||
| More complete medical/social report | 9.2 (35) | 7.8 (18) | 11.3 (17) | ||
| Other | 12.6 (48) | 12.6 (29) | 12.7 (19) | ||
Q: quartile; RD: rare disease; AR: autonomous region; DK/NO: don’t know/no opinion.