Clinical suspicion of vEDS Advice?
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Hi everyone, I am seeking advice on how to accelerate a diagnostic workup for vEDS. I’ve recently been dismissed by a pain clinic because I’m "too young for a diagnosis," but my clinical picture and family history are deeply concerning.
Vascular & Physical Markers:
Translucent skin: Extremely visible venous patterning across my chest and hands (acrogeria).
Eyes: Prominent blue sclera and a recent increase in iris pigmentation/spots.
Fragility: Spontaneous bruising and blue lips/nails (cyanosis) with cold exposure.
Cardiac: high (210 bpm & low 30 bpm) and chest pains, hear heartbeat and feel pounding and sometimes
Anesthesia Resistance: Significant resistance to local anesthetics (dental work).
High-Risk Family History:
Consanguinity: Grandparents share common ancestors (isolated population).
Maternal Grandfather: Died at age 47 after 10 cardiac arrests and kidney failure
Maternal Uncle: Suffered a childhood brain hemorrhage (stroke) and a dialisis
Great-grandmother: Died at age 36; early-onset blindness kidney failure
Organ Rupture?: My mother had a spontaneous ruptured appendix at age 4, eye problems, partly deaf, and has been hospitalized for suspicion stroke/heartfailure (also veiny like me & sister).. didnt find the cause
Sister: Also extremely hypermobile with visible veins, heart palpations (enlarged heart) and recent acute leg weakness/failure.
Current Situation:
I am experiencing neurological "pseudo-seizures" from visual stimuli (like trains) and leg failure upon spinal pressure, which makes me suspect CCI in addition to the vascular risks. My medical records show systemic "soft tissue" failure (shoulders, pelvis, ankles) over several years.
I am preparing to demand a referral to a Clinical Geneticist for a connective tissue panel (COL3A1).
Questions for the community:
Given the early death (age 36 and 47) and childhood stroke in my family, how do I convey the urgency of an MRA/CT scan to a GP and long waiting list for eds clinic?
Are there specific questions I should ask the Geneticist regarding the consanguinity factor?