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How To Differentiate Between Ehlers Danlos Syndrome And Marfan's Syndrome?
Question: Dear Dr. Ilir Sharka:
Just wanted to follow up on my previous questions. I went to see my cardiologist on July 15th. My blood pressure was pretty high, and I had taken my Metoprolol Tartrate 25 mg prior to my appointment. It was 170/100. He changed the dosage to 50 mg twice a day, and changed my Losartan Potassium to 100 mg. He arranged for me to have an MRA of my chest, which was done on July 20th, due to the aneurysm that had shown up on the Transesophageal Echocardiogram. We also discussed Marfan's, and he agreed that I should be genetically tested for Ehlers Danlos, too. I have many characteristics which fit Ehlers Danlos, just as Marfan's. I have had a bruising problem all my life, and was born with a congenital hip dislocation, too. When I started making notes as to the medical and physical characteristics that I have which fall in line with Ehlers Danlos Syndrome, the list was two pages long. As we know, that doesn't make it definitive. I am waiting for my insurance company's approval to proceed with the bloodwork. Also, the lab that my cardiologist used to use to perform the testing, no longer does the panel of testing required. The office staff have informed me that my cardiologist returns from his summer vacation on August 1st, and he would need to sign off on using a different lab. So, slow progress, but still trying to solve this medical puzzle. Thank you again for your help and concern.
Most Sincerely, XXXXXXX O'Donnell
Just wanted to follow up on my previous questions. I went to see my cardiologist on July 15th. My blood pressure was pretty high, and I had taken my Metoprolol Tartrate 25 mg prior to my appointment. It was 170/100. He changed the dosage to 50 mg twice a day, and changed my Losartan Potassium to 100 mg. He arranged for me to have an MRA of my chest, which was done on July 20th, due to the aneurysm that had shown up on the Transesophageal Echocardiogram. We also discussed Marfan's, and he agreed that I should be genetically tested for Ehlers Danlos, too. I have many characteristics which fit Ehlers Danlos, just as Marfan's. I have had a bruising problem all my life, and was born with a congenital hip dislocation, too. When I started making notes as to the medical and physical characteristics that I have which fall in line with Ehlers Danlos Syndrome, the list was two pages long. As we know, that doesn't make it definitive. I am waiting for my insurance company's approval to proceed with the bloodwork. Also, the lab that my cardiologist used to use to perform the testing, no longer does the panel of testing required. The office staff have informed me that my cardiologist returns from his summer vacation on August 1st, and he would need to sign off on using a different lab. So, slow progress, but still trying to solve this medical puzzle. Thank you again for your help and concern.
Most Sincerely, XXXXXXX O'Donnell
Brief Answer:
I would explain as follows:
Detailed Answer:
Dear XXXXXXX
Welcome back on HCM!
It is true that Ehlers Danlos syndrome and Marfan's are similar syndromes with similar symptoms. They are both genetic disorders affecting the connective tissue.
But they can be distinguished because some symptoms are more prominent in one disorder (like eye problems in Marfan's and skin hyperelasticity and joint hypermobility).
It is true that you can find many of your symptoms compatible with both these disorders, but the diagnosis can not be confirmed only by these symptoms.
The genetic test is the only test to determine the diagnosis.
The fact that you are 45 years old and have not had any serious health problems until now, indicates that a mild form of the disorder (if it is present).
So, I recommend continuing with the genetic tests. You have waited an entire life to be suspected of this disorder. Some additional months will not make any difference. You should only try to be patient (I know it is hard!).
I would be happy to review your performed tests for another professional opinion.
I recommend following up with your doctor with Transesophageal Echocardiogram every 6 months, in order to examine the possible progression of the dimensions of your aorta.
I am always at your disposal for any other questions whenever you need!
Wishing all the best,
Dr. Iliri
I would explain as follows:
Detailed Answer:
Dear XXXXXXX
Welcome back on HCM!
It is true that Ehlers Danlos syndrome and Marfan's are similar syndromes with similar symptoms. They are both genetic disorders affecting the connective tissue.
But they can be distinguished because some symptoms are more prominent in one disorder (like eye problems in Marfan's and skin hyperelasticity and joint hypermobility).
It is true that you can find many of your symptoms compatible with both these disorders, but the diagnosis can not be confirmed only by these symptoms.
The genetic test is the only test to determine the diagnosis.
The fact that you are 45 years old and have not had any serious health problems until now, indicates that a mild form of the disorder (if it is present).
So, I recommend continuing with the genetic tests. You have waited an entire life to be suspected of this disorder. Some additional months will not make any difference. You should only try to be patient (I know it is hard!).
I would be happy to review your performed tests for another professional opinion.
I recommend following up with your doctor with Transesophageal Echocardiogram every 6 months, in order to examine the possible progression of the dimensions of your aorta.
I am always at your disposal for any other questions whenever you need!
Wishing all the best,
Dr. Iliri
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Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
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