TABLE 2.
Complications associated with various sub-types of the Ehlers-Danlos syndromes.
| Characteristics, n (%) | Total | EDS subtype | |||||||||||||
| All cases (n = 839) | cEDS (n = 171) | hEDS (n = 172) | vEDS (n = 305) | clEDS (n = 25) | aEDS (n = 13) | dEDS (n = 4) | kEDS (n = 40) | BCS (n = 11) | spEDS (n = 25) | mcEDS (n = 17) | mEDS (n = 5) | pEDS (n = 37) | cvEDS (n = 1) | clEDS2 (n = 13) | |
| Musculoskeletal complications | |||||||||||||||
| Sprain | 55 (51.4) | 27 (57.4) | 12 (92.3) | 11 (27.5) | 1 (100.0) | − | − | 2 (100.0) | − | 0 (0.0) | − | − | − | 0 (0.0) | 2 (100.0) |
| Subluxation/dislocation | 243 (49.5) | 86 (62.8) | 46 (43.4) | 35 (23.3) | 19 (79.2) | 12 (100.0) | 1 (100.0) | 17 (60.7) | 0 (0.0) | 14 (93.3) | 1 (100.0) | 2 (40.0) | − | 0 (0.0) | 10 (100.0) |
| Muscle/tendon rupture | 28 (11.1) | 2 (6.5) | − | 24 (11.0) | − | − | − | − | − | − | − | − | − | 1 (100.0) | 1 (100.0) |
| Joint pain | 217 (80.4) | 23 (46.0) | 161 (94.7) | 2 (40.0) | 13 (59.1) | − | 3 (100.0) | − | − | 2 (100.0) | 1 (100.0) | 1 (100.0) | 8 (61.5) | 1 (100.0) | 2 (100.0) |
| Osteoarthritis | 8 (17.4) | 8 (17.8) | 0 (0.0) | 0 (0.0) | − | − | − | − | − | − | − | − | − | − | − |
| Decreased bone density | 39 (90.7) | 6 (85.7) | − | 3 (100.0) | 2 (100.0) | − | − | 5 (71.4) | 2 (100.0) | 15 (100.0) | 1 (100.0) | − | − | 0 (0.0) | 5 (100.0) |
| Hypotonia/Weakness | 79 (56.4) | 6 (12.5) | 5 (100.0) | 15 (68.2) | 7 (63.6) | − | 23 (100.0) | − | 13 (76.5) | 2 (66.7) | 4 (80.0) | − | − | 4 (66.7) | |
| Hernias | 114 (26.4) | 42 (31.8) | 14 (12.8) | 33 (21.3) | 1 (100.0) | 6 (50.0) | 1 (100.0) | 2 (66.7) | 1 (100.0) | 1 (100.0) | 1 (100.0) | 4 (80.0) | 3 (100.0) | − | 5 (62.5) |
| Vascular complications | |||||||||||||||
| Cerebrovascular* | 38 (23.2) | 5 (100.0) | − | 25 (16.3) | − | − | − | 4 (100.0) | − | 2 (100.0) | − | − | 1 (100.0) | − | − |
| Carotid cavernous fistulae | 7 (4.2) | − | − | 7 (28.0) | − | − | − | − | − | − | − | − | − | − | − |
| Carotid event | 11 (6.7) | − | − | 11 (44.0) | − | − | − | − | − | − | − | − | − | − | − |
| Intracranial aneurysm | 5 (3.0) | 1 (20.0) | − | 4 (16.0) | − | − | − | − | − | − | − | − | − | − | − |
| Intracranial event | 15 (9.1) | 4 (80.0) | − | 7 (28.0) | − | − | − | 4 (100.0) | − | 2 (100.0) | − | 1 (100.0) | − | − | |
| Cardiovascular† | 279 (54.7) | 45 (63.4) | 108 (63.5) | 78 (44.6) | 7 (29.2) | 2 (18.2) | 3 (100.0) | 12 (66.7) | 2 (33.3) | 10 (71.4) | 1 (50.0) | − | 3 (75.0) | 1 (100.0) | 7 (63.6) |
| Extracranial aneurysm | 89 (33.2) | 5 (55.6) | 0 (0.0) | 77 (31.4) | − | − | − | 2 (66.7) | − | − | − | − | 4 (50.0) | − | 1 (50.0) |
| Arterial dissection/Rupture | 105 (38.3) | 6 (54.5) | 0 (0.0) | 89 (35.5) | 1 (100.0) | − | 1 (100.0) | 4 (100.0) | − | − | − | − | 3 (100.0) | − | 1 (50.0) |
| Cardiovascular dysautonomia | 77 (65.8) | 14 (29.8) | 56 (88.9) | 2 (100.0) | − | 1 (100.0) | 2 (100.0) | − | − | − | − | − | − | − | 2 (100.0) |
| Miscellaneous complications | |||||||||||||||
| Chronic pain | 191 (73.7) | 22 (43.1) | 139 (88.5) | 16 (43.2) | 2 (100.0) | − | 3 (100.0) | 2 (100.0) | − | 2 (100.0) | 1 (100.0) | 1 (100.0) | − | − | 3 (100.0) |
| Chronic fatigue | 104 (72.2) | 20 (39.2) | 61 (96.8) | 2 (66.7) | 15 (71.4) | − | 2 (100.0) | − | − | − | − | 1 (100.0) | − | − | 3 (100.0) |
| Pneumothorax/ Hemothorax |
42 (22.2) | 1 (100.0) | − | 40 (21.4) | − | − | − | − | − | 1 (100.0) | − | − | − | − | − |
| Gastrointestinal‡ | 137 (67.8) | 34 (66.7) | 57 (90.5) | 28 (53.8) | 7 (29.2) | − | − | 2 (100.0) | − | 2 (100.0) | 1 (100.0) | − | 1 (100.0) | − | 5 (83.3) |
| Bowel perforation | 84 (30.4) | 1 (100.0) | − | 75 (30.0) | 5 (22.7) | − | − | 1 (100.0) | − | − | − | − | 1 (100.0) | − | 1 (100.0) |
| Urological§ | 98 (28.5) | 16 (33.3) | 59 (37.1) | 12 (9.7) | − | − | 1 (100.0) | 3 (100.0) | − | 2 (100.0) | 2 (100.0) | − | 1 (100.0) | − | 2 (50.0) |
| Hearing loss | 17 (54.8) | 2 (66.7) | − | 1 (100.0) | − | − | − | 9 (64.3) | 4 (44.4) | 1 (25.0) | − | − | − | − | − |
| Ocular¶ | 141 (70.1) | 44 (65.7) | 46 (74.2) | 7 (87.5) | 3 (100.0) | 4 (33.3) | 1 (100.0) | 8 (66.7) | 7 (100.0) | 9 (75.0) | 3 (100.0) | 1 (20.0) | − | 1 (100.0) | 7 (87.5) |
| Neuropsychiatric# | 105 (73.4) | 43 (75.4) | 1 (100.0) | 13 (92.9) | 2 (66.7) | 4 (33.3) | 3 (100.0) | 11 (100.0) | − | 13 (59.1) | 1 (33.3) | 5 (100.0) | 7 (100.0) | 0 (0.0) | 2 (50.0) |
cEDS, classical; clEDS, classical-like; vEDS, vascular; hEDS, hypermobile; aEDS, arthrochalasia; dEDS, dermatosparaxis; kEDS, kyphoscoliotic; BCS, brittle cornea syndrome; spEDS, spondylo-dysplastic; mcEDS, musculocontractural; mEDS, myopathic; pEDS, periodontal; cvEDS, cardiac valvular; clEDS2, classical-like 2; SD, standard deviation; Q1, first quartile; Q3, 3rd quartile; “-”, data not reported; N/A, not available.
*Carotid events include carotid dissection/infarction, whilst intracranial events include intracranial hemorrhage and/or infarction. Cerebrovascular events were not mutually exclusive.
†Early onset varicose veins, valvular issues, arterial tortuosity, fistulae, murmurs, and bundle-branch blocks.
‡Constipation, dierrhoea, irritable bowel syndrome, reflux, and/or hepatitis.
§ Urinary incontinence, bladder cysts, bladder rupture, and/or uterine rupture.
¶ Myopia, astigmatism, keratoconus, cornea perforation, lens dislocation, glaucoma, and/or scleral ectasia.
#Delayed motor and cognitive development, migraines, tinnitus, dizziness, depression, anxiety, and/or attention-deficit disorder.