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Ehlers-Danlos Syndrome Type 4

What is Ehlers-Danlos Syndrome Type 4?

Ehlers-Danlos Syndrome Type 4 is a rare autosomal dominant defect in the type-III collagen synthesis.

 

Ehlers-Danlos Syndrome Type 4 is a rare autosomal dominant defect in the type-III collagen synthesis.
Acknowledgement of Ehlers-Danlos Syndrome Type 4 has not been added yet.
1.0http://www.orpha.net
Synonyms for Ehlers-Danlos Syndrome Type 4 has not been added yet.
Ehlers-Danlos Syndrome Type 4 is caused by a mutation in the COL3A1 gene.
Fragile blood vessels and organs that are prone to tearing (rupture) Thin, translucent skin that bruises easily Characteristic facial appearance, including protruding eyes, thin nose and lips, sunken cheeks and small chin Collapsed lung (pneumothorax) Heart valve problems (mitral valve prolapse and others)
Diagnosis of Ehlers-Danlos Syndrome Type 4 has not been added yet.
Diagnostic tests of Ehlers-Danlos Syndrome Type 4 has not been added yet
Treatments of Ehlers-Danlos Syndrome Type 4 has not been added yet.
Prognosis of Ehlers-Danlos Syndrome Type 4 has not been added yet.
Tips or Suggestions of Ehlers-Danlos Syndrome Type 4 has not been added yet.
References of Ehlers-Danlos Syndrome Type 4 has not been added yet.
EDS Created by andyangiet
Last updated 21 Apr 2012, 01:54 PM

Posted by hutchrenee
21 Apr 2012, 01:54 PM

Hi Nick, The geneticist will be able to confirm an EDS 4 (vascular EDS) diagnosis with a blood test. Although the diagnosis will be scary it will allow your doctors to treat you appropriately. It sounds like whether it is positive or not they will want to treat you like you have a very fragile vascular system. Feel free to ask any questions and take a look at www. Http://Ehlerdanlosnetworkcares.org Renee

Posted by nickf
20 Apr 2012, 01:47 PM

Hi, I'm Nick, I'm 28 and after 4 years of enquiries, two days ago I received a provisional diagnosis of EDS 4, but I have to have it confirmed by a geneticist. My problems started in 2007 when i was admitted to hospital with very high blood pressure (I am now hypertensive) bleeding kidneys (blood in urine) and a range of other problems. Whilst I returned to what I considered good health, I had a numb leg in the winter and went to see a vascular consultant about this as I was missing a pulse in the leg. 2 days ago, after an MRI and CT scan, he told me he thought i had EDS4. Needless to say this has been devastating news. I wanted to speak with others with the same condition and just see if this helps in anyway. I dont seem to fit the clinical picture for EDS4 but i think i have the arterial ruptures that are a tell tale sign.

Posted by Isabella
31 Oct 2011, 11:48 AM

EDS IV is a very rare and different case to all the other ones. I'm 15 and have was diagnosed when i was two, you always have to concious about knocking yourself as rupturing of organs and main arteries is a common occurence and also the breakage of the skin which is a lot harder to heal. It sucks a lot and it frustrates me too, but its good to be able to talk to people who have it :) I know that there is a doctor in Sydney called Eric Haan who focuses of EDS, maybe it would be worth emailing him to find out more. Good luck.

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Created by andyangiet | Last updated 21 Apr 2012, 01:54 PM


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