Question
Dear Barbara,
My husband was just diagnosed with Ehlers Danlos Type 4. The diagnosing physician recommended that we research the condition on the Internet. Now we have many questions and the doctor unreachable. Can you please provide some guidance? Here are my questions:

1. I've read that many Type 4 patients have organ failure and die in their 40s. What percentage is this and is there hope for my husband, who is 31?

2. Many of the symptoms of Type 4 don't match up with my husband. Do you recommend a skin (genetic) test?

3. Are there medical centers on the East Coast that are highly regarded for their treatment or research of Ehlers Danlos?

Thank you so much for your advice.  

Answer
Hi Heather,

Sorry to hear about your husband's diagnosis.  I have type III (now called Hypermobile type) and will try to help as best I can.

I don't have reliable statistics on type IV and life expectancy.  Much of what you read on the Internet and medical articles is outdated and with medical advances and proper care, life expectancies may be improving.  I know people with this type who have died young and others who have lived long lives.  So, unfortunately, I can't give a definite answer to your first question.

As for the genetic test, YES - absolutely hands down I recommend getting the test.  So many doctors out there are clueless about EDS and people are misdiagnosed with the wrong type.  The skin biopsy can confirm or rule out type IV and will give you better answers than the opinion of one doctor.  In my opinion, a doctor should NEVER diagnose this type without doing the test. EDS symptoms overlap between the types too much to be certain without doing the test.

Yes, there are good resources on the East Coast for EDS.  Dr Clair Francomano is in Baltimore, MD and was one of the lead researches for EDS at the NIH.  She left NIH for private practice and sees many EDS patients.  

Dr Nazli McDonnell at NIH is also superb, but it may be next to impossible to get in to see her as the connective tissue research study is full and they are hard-pressed to be able to fit more patients into the schedule.

I don't have Dr Francomano's contact info, but I can get it for you.  You can also just look her up in the phone book out there, I bet.

In addition, I highly recommend joining an online support group specifically for type IV.  Type IV is now called Vascular EDS or VEDS.  On Yahoogroups, there is an email list specifically for VEDS.  Here you will find people who have this type of EDS and their friends/loved ones.  It is one of the best places to get answers.  

http://health.groups.yahoo.com/group/VEDS/

EDS Organizations:
http://www.edstoday.org/
http://www.ehlersdanlos.ca
http://www.ehlers-danlos.org
http://www.ednf.org

Skin Biopsy Testing Info:
http://www.pathology.washington.edu/clinical/collagen/
http://www.pathology.washington.edu/clinical/collagen/sampling.php
http://www.pathology.washington.edu/clinical/collagen/shipping.php

VEDS Info:
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndromevasculartype
http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130050
http://www.geneclinics.org/profiles/eds4/

-Barb
[email protected]
Editor, EDS Today
www.edstoday.org
[email protected]
(253) 835-1735 phone/fax