question-icon

Hi. I recently turned 40 in Dec 2018. I suffered

default
Posted on Sat, 2 Mar 2019
Question: Hi. I recently turned 40 in Dec 2018. I suffered a cva: 2 MRI confirmed : right parietal juxta cortical region parafalx on 12 XXXXXXX 2019, but have made a full recovery (after experiencing left arm loss proprioception and sensation as well as weakness and loss of range of motion for 3 days, with inital loss of coordination and abnormal sensation in lower limb as well- although briefly). CT angio was clear as was echo. TOE found a PFO and after bubble injection and valsalva confirmed paradoxical flow. I am taking warfarin. Along with this, i had a Erythema nodosum rash two weeks prior to the cva and ANA titre 1:160 suggesting autoimmune reaction. Along with this, i have clinical features of ehlers-danlos syndrome (stretchy translucent skin of hands and feet, stretchy eyelids, soft doughy skin, high arch in palate, fallen arches in feet, clawing of toes, right shoulder dislocations x25, lax ligaments, big eyes, short stature, long arms). The Opthalmologist has examined and content with vascular and pressure in eyes. There are 3 possible causes of the cva, but taking warfarin may be contraindicated in ehlers-danlos type4. Am having follow up with neurologist in 2weeks time and redoing ANA in April. Should i have the genetic testing done for ehlers-danlos, as this is very expensive and only offered overseas -R33000.00? Am i being managed fairly or should i be seeking additional opinions/investigations?
doctor
Answered by Dr. Erion Spaho (1 hour later)
Brief Answer:
Genetic testing is necessary.

Detailed Answer:
Hello and welcome to "Ask a Doctor" service.

I have read your query and here is my advice.

Even with the correct management, it is crucial to diagnose correctly the subtype of Ehlers-Danlos.

Since the vascular type is suspected, DNA based genetic testing is necessary.

I think that other options for anticoagulation/antiagregation should be evaluated until a correct diagnosis is achieved. ( enoxaparin, rivaroxaban, etc.).

Hope you found the answer helpful.

Let me know if I can assist you further.

Above answer was peer-reviewed by : Dr. Vaishalee Punj
doctor
Answered by
Dr.
Dr. Erion Spaho

Neurologist, Surgical

Practicing since :2004

Answered : 3912 Questions

premium_optimized

The User accepted the expert's answer

Share on
Hi. I recently turned 40 in Dec 2018. I suffered

Brief Answer: Genetic testing is necessary. Detailed Answer: Hello and welcome to "Ask a Doctor" service. I have read your query and here is my advice. Even with the correct management, it is crucial to diagnose correctly the subtype of Ehlers-Danlos. Since the vascular type is suspected, DNA based genetic testing is necessary. I think that other options for anticoagulation/antiagregation should be evaluated until a correct diagnosis is achieved. ( enoxaparin, rivaroxaban, etc.). Hope you found the answer helpful. Let me know if I can assist you further.