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Is Skin Biopsy The Diagnostic Test For Vascular Ehlers-Danlos Syndrome?

Posted on Tue, 14 Jun 2016

Question: hello I have a curved spine kyphosis 85 degress with dextro scolosis. my skin is pretty stretchy. I can see my veins in my arm. im flat footed my questions are this. my doc had checked me for marfan syndrome and does not believe I have it. im gonna ask him about ehlners darlos syndrome. I heard that simple skin biopsy can find the vascular type of eds, can a family doctor order this test or most it be orderd by a geneticts? also does this sound like vascular eds? I am not hyper XXXXXXX I feel no pain I have cracky joints though. I don't seem to bruise to easily. I don't really have any of the facial features. I have long thin arms and im very pale. I can see my veins in my hands forarms and ankles. but not in my chest or abdomen. despite the thin skin, my hands and feet look pretty youthful. I have no hip problems, and have never dislocated a joint before in my life does this sound like vascular eds?

Answered by Dr. Aashish Raghu (29 minutes later)

Brief Answer:
Most likely Marfan syndrome thought not full blown yet

Detailed Answer:
Hi there.

Thanks for the query.

Vascular EDS can be diagnosed by identifying ultrastructural characteristics in the skin biopsy.

You do not have vascular disease because your do not got the major or minor criteria for its diagnosis.

There is more chance of Marfan syndrome though not yet full blown, which needs further genetic testing to confirm. Kindly consult a Genetic counsellor in this regard.

Do consult with a Spine surgeon to treat your Scoliosis as I it is important for unhindered respiratory function.

I hope I have answered your query.

I will be available to answer your follow up queries.

Regards,

Dr. Aashish Raghu

Above answer was peer-reviewed by : Dr. Naveen Kumar

Follow up: Dr. Aashish Raghu (20 minutes later)

Marfan syndrome? But my skin is pale and overly strechy? Also what do you mean by full blown yet? I've had an echocardiogram each year for Marfan's and my aorta root looks perfect. I'm 21

Also can my family care doctor order a skin biopsy or do I need to see a gebetisict
I was also born with spina bifida occtle

Answered by Dr. Aashish Raghu (9 minutes later)

Brief Answer:
Need to consult Genetic counsellor first

Detailed Answer:
Spina bifida can cause scoliosis and also flat feet.

It is better to get a consult with a Genetic counsellor first before taking any tests. This will help to diagnose EDS or Marfan syndrome.

In some cases due to mosaicism, all features of Marfan syndrome may not show up, this requiring Genetic tracing.

Above answer was peer-reviewed by : Dr. Naveen Kumar

Follow up: Dr. Aashish Raghu (15 minutes later)

I most certainly will but based on my symptoms what seems more likely Marfan's or Ed's I'm not hypermobile feel no pain don't bruise easy heal fine no dislocated joints just back pain. I have petcus excavnium and my skin can be stretched about two inches above my arms
My apoint with genetisict is not for nine months. So I'll have to wait a bit for that, but can a doctor or specialist order a skin biopsy for Ed's or must it be through a genetisict?

Answered by Dr. Aashish Raghu (7 minutes later)

Brief Answer:
EDS

Detailed Answer:
This seems to be more in favour of EDS.

Skin biopsy can be ordered my a GP or Specialist.

Above answer was peer-reviewed by : Dr. Naveen Kumar

Follow up: Dr. Aashish Raghu (22 minutes later)

Vascular eds?

Answered by Dr. Aashish Raghu (1 minute later)

Brief Answer:
Not vascular EDS

Detailed Answer:
Vascular EDS has certain criteria which you do not qualify for. Not to worry.

Above answer was peer-reviewed by : Dr. Naveen Kumar

Follow up: Dr. Aashish Raghu (18 minutes later)

And a skin biopsy can rule it out?

Answered by Dr. Aashish Raghu (21 hours later)

Brief Answer:
Yes. Skin biopsy is ideal

Detailed Answer:
Yes. A slim biopsy will be able to rule out EDS.