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Table 1 Characteristics of the study population: method of diagnosis shows either the mutation in COL3A1 if found, diagnosis by EDS specific electron microscopy of antebrachial skin biopsy or clinical phenotype evaluated by a geneticist. Major and minor symptoms include EDS and especially vascular type EDS specific symptoms based patients’ reports. Familial involvement shows positive family history (yes) in patients and A, B, C refer to distinct families, where more than one member participated in the study (Fig. 2). Medication shows daily and occasional drugs at the time of investigation. (y = years, f = female, m = male, SAB = subarachnoideal bleeding)

From: Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

ID Sex Age Method of EDS diagnosis Major symptoms Minor symptoms Family involvement Medication
(y)
1 f 39 clinical - (uncomplicated delivery) yes Celiprolol
2 f 45 c3508G > A (p.G1170S) hemorrhage (mother/sister had lethal internal bleedings) yes -
3 f 44 Col3A1 c.1804C > A hemorrhage, hypermenorrhea (sister/niece have same vasc EDS mutation) yes Thyroxine, Venlafaxine
4 m 52 skin biopsy cranial aneurysm, SAB - - ASS, Metoprolol, Amiodarone
5 m 43 COL3A1:c.{973G > T};{=} cranial aneurysm - A -
6 m 13 COL3A1:c.{973G > T};{=} - hypermobility A -
7 f 22 c.2295_2312delTCCTATTGGTCCTCCTGG,p,lle767_Pro772del vertebral aneurysm hypermenorrhea - evtl Tranexamic acid
8 f 36 clinical - hypermobility - Thyroxine
9 m 53 clinical - multiple hernia - -
10 f 25 skin biopsy internal bleeding hypermobility,kissing spleen,varicose veins,valve insuffic - Tramadol,Bisoprolol,Duloxetine
11 f 75 COL3A1:IVS16 + 1G > A cervical av-istula hemorrhage, varicose veins, hypermobility C -
12 f 46 COL3A1:IVS16 + 1G > A kidney infarction, SAB hemorrhage, hematoma lower extremity, hypermobility C -
13 f 55 COL3A1:IVS16 + 1G > A SAB hypermobilita C -
14 f 29 COL3A1:IVS16 + 1G > A - spina bifida, hydrocephalus, hypermobility C -
15 f 41 clinical atrial septum aneurysm hemorrhage, hypermobility, mitral valve reflux - Nebivolol,Kodein,Prednisolon
16 f 50 skin biopsy, negative
Col5A/Col3A testing
hemorrhage (six uncomplicated deliveries) B -
17 m 19 clinical gastric perforation hemorrhage B -
18 m 8 clinical hemorrhage impaired wound healing B -
19 m 9 clinical - facial stigmata of EDS B -
20 m 50 Col3A1 c.3544G > A retroperitoneal hemotoma - - -
21 f 25 Col3A1c.1258G > C carotid dissection, stroke contralateral asymptomatic dissection - -
22 f 49 skin biopsy hemorrhage gestational bleeding - -