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Genetics (Expert Forum)
Ehlers Danlos III
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Ehlers Danlos III
by Rachelinpain, Feb 05, 2008 07:19AM
I have joint hypermobility and my PCP thinks I may have Ehlers Danlos. Since there is no specific blood test for this condition and the diagnosis is clinical, how important is it to have an actual "official" diagnois. I am starting to see signs in my son-2 years old-that make me think he may have the condition too. He has already had problems with one of his hands requiring surgery (not a dislocation but a joint issue) and has had nursmaids elbow several times. He has extremely loose joints compared to his twin sister and has always had problems with his ankles--his ankles turn in so far that he walks almost on the side of his foot, he is constantly covered in bruises--in odd places--and you can see all of the veins under the skin on his chest and abdomen--he looks like someone painted lines on him. should i have him seem by a genetesist or is it something i do not need to worry about?
Doctor's Answer
by Lisa Kessler, MS, CGC, Feb 08, 2008 09:56AM
, Feb 08, 2008 09:56AM
Given the concerns that you have raised about your joints and your son’s features, you both may benefit from seeing a geneticist. A geneticist can do a thorough exam, and review family history information in order to make a diagnosis of EDS.
As you know, Ehler-Danlos syndrome (EDS) is a group of disorders that affect the connective tissue. There are many different types of EDS including Hypermobility, Classical, and Vascular. They are each distinct conditions, but there can be some overlap with features such as stretchy skin, hypermobile joints, bruising, and trouble with wound healing. Most types of EDS run in families in an autosomal dominant way. If a parent has EDS, there is a 50% chance of passing the condition on with each child she has.
Importantly, seeing a geneticist may also help rule out the most serious type of EDS, the vascular type. Testing for the vascular type of EDS is typically done with a skin biopsy. After the geneticist completes the physical exam, s/he may conclude that a biopsy is not indicated. If it is needed, a skin biopsy is performed in a physician’s office under local anesthesia. The testing process can sometimes be difficult for families because of the serious complications of vascular EDS. It may help to talk with other families who have been through this before by contacting the Ehlers-Danlos National Foundation. Best wishes to you and your family.
As you know, Ehler-Danlos syndrome (EDS) is a group of disorders that affect the connective tissue. There are many different types of EDS including Hypermobility, Classical, and Vascular. They are each distinct conditions, but there can be some overlap with features such as stretchy skin, hypermobile joints, bruising, and trouble with wound healing. Most types of EDS run in families in an autosomal dominant way. If a parent has EDS, there is a 50% chance of passing the condition on with each child she has.
Importantly, seeing a geneticist may also help rule out the most serious type of EDS, the vascular type. Testing for the vascular type of EDS is typically done with a skin biopsy. After the geneticist completes the physical exam, s/he may conclude that a biopsy is not indicated. If it is needed, a skin biopsy is performed in a physician’s office under local anesthesia. The testing process can sometimes be difficult for families because of the serious complications of vascular EDS. It may help to talk with other families who have been through this before by contacting the Ehlers-Danlos National Foundation. Best wishes to you and your family.
Member Comments (3)
by Rachelinpain, Feb 09, 2008 10:22PM
To: dr. kessler
thanks
by trouble74, Feb 22, 2008 12:19PM
To: Dr Kessler
For a number of months, at least six to nine, I am not sure, I have on the lower part of both legs blotches of discolored skin from red to rust. They do not hurt and I did not mention them to a doctor until very recently. I visited a vascular doctor to see if there might be a vein problem since I have varicose veins but not enlarged. The doctor said this appeared to be iron deposits and he suspects hemochroatosis. I have an appt in early March with a dermotologist. Since I have read a lot on the internet regarding this condition, I have really become concerned. I have some of the other symptoms suggested for this and I would like to know if a skin doctor is the one I need to see for a diagnosis. The vascular doctor said they would do a biopsy. Please advise. I am 74 years old and do not want to delay treatment. Thanks
