Cystic Fibrosis Forum - Marfan's syndrome diagnosis

Conditions and Diseases > Cystic Fibrosis Forum > Marfan's syndrome diagnosis

Q: Marfan's syndrome diagnosis

asked by: Seraph on June 17th, 2009

Experienced User

Hi,

I have Marfan's syndrome but was having more problems with my joints than the usual patient so my doctor did blood tests for RA and various other related issues. They didn't find any problems with my joints so that is more than likely all down to wear and tear but instead, they found that I have very high enzyme levels relating to the mucus/sweat gene.

Is the enzyme test sufficient to make an accurate diagnosis or should I insist on a sweat test... I don't like asking a doctor for further tests, as I would assume they would request it if necissary and tend to get upset thinking that you are questioning their abilities but I have found that some doctors tend to close the book after the first positive test result while others insist that, for example with the MFS dx that I should have had further tests done.

Althoug I understand that MFS especially, is very difficult to pin down and that not even gene tests is always accurate, but it is quite frustrating.

If you have any advice, I would be very appreciative.

Could you also explain to me what the difference is between a Diagnosis and a Clinical Diagnosis?

Thanks in advance

Andre T. Dreyer

Replies(1)

Dr. Joel W. Steelman , MD

replied on October 7th, 2009

I see that you're aware of the increase in joint pain problems in Marfan syndrome. This is due to the laxity in joints. Also, scoliosis and kyphosis can impair biomechanics.

I am a bit stumped trying to figure out the enzyme level that you are referring to - trypsinogen, perhaps, based on you mentioning sweat testing. I am not aware of any links between trypsinogen with Marfan syndrome or with joint pains. I think that you'll have to ask your doctor for more details on the implication and interpretation of that testing.

You are correct on diagnosing Marfan syndrome. The diagnosis is mainly a clinically based diagnosis made by physical examination with some radiological ancillary studies. The genetic cause is thought to be a mutation in the fibrillin gene; however, the genetic testing is not considered up to the degree of reliability to be used as a diagnosis proving measure.

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