Should I see a Marfan's Specialist
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From: KJBurger on 24 Dec 2006 20:58 I have Marafan's Syndrome symptoms since I was younger. I have Scholios, small mouth, narrow head, my fingers and toes are abnormaly long. The doctors were afraid to digoniosses as their seemed not to be a famimly history of this syndrome. My Grandfather died about seven year ago form an unexplained heart attack. I am not tall nor skinny but I am not sure that matters but I'm geting quite concren as I am entery into my twenties. Do my worries have valid claim even though I haven't been digonossed or treated since I was in elmentry school?
From: Cameron Kaiser on 25 Dec 2006 11:37
"KJBurger(a)gmail.com" <KJBurger(a)gmail.com> writes: >I have Marafan's Syndrome symptoms since I was younger. I have >Scholios, small mouth, narrow head, my fingers and toes are abnormaly >long. The doctors were afraid to digoniosses as their seemed not to be >a famimly history of this syndrome. My Grandfather died about seven >year ago form an unexplained heart attack. I am not tall nor skinny but >I am not sure that matters but I'm geting quite concren as I am entery >into my twenties. Do my worries have valid claim even though I haven't >been digonossed or treated since I was in elmentry school? There are such things as novel mutations, so a family history is helpful, but its absence does not rule out the disease. The question is how your diagnosis was established. If it was by length ratios, or by other major criteria such as severe pectus excavatum or protrusio acetabula, then I would attempt to get a copy of your paediatric records and bring them to your new physician and explain the situation. If you have any demonstration of connective tissue laxity, such as ulnar thumb protrusion or overlap of the 1st/5th digits around the wrist, etc., show it to them for their evaluation. The remainder of this assumes that you do in fact have a high probability of Marfan syndrome, since other connective tissue disorders may have very different severity or natural progression. Remember that the differential diagnosis can include other disorders such as Ehlers-Danlos, depending on your presentation. After that, then you might consider asking them for a referral for an echocardiogramme to assess chamber size and aortic root size, since your single greatest risk at your present age would probably be an aortic aneursym or intimal dissection. There are few Marfan specialists and most of them are paediatric dysmorphologists (I'm just a general practise MD with a special interest as I was also considered for the diagnosis, although mercifully I do not seem to meet criteria). Lifelong cardiac surveillance will be required for assessment if the diagnosis is made or seems suspicious. A reasonable consideration might be annual echocardiography with additional workup for unexplained new onset chest pain. If there are abnormalities on your echocardiogramme, particularly if there is severe mitral-valve prolapse (low severity MVP can be managed simply with antibiotic prophylaxis and symptomatic re-evaluation by a primary MD) or changes in the aortic root, you should obtain a referral to a cardiologist to evaluate whether it can be managed medically or if surgery is required. It is not generally recommended to do molecular testing unless good clinical signs are present, simply because fibrillin testing is notoriously non-specific (not all fibrillin-1 mutations are Marfan) and it is not wholly accurate. The diagnosis in this age remains primarily clinical. As you would still be treated as a Marfan patient with major criteria alone, getting a fibrillin test IMHO would only cloud the picture because the result will not change how you are followed. I hope this helps you. Cameron Kaiser, M.D. -- Cameron Kaiser * ckaiser(a)floodgap.com * posting with a Commodore 128 personal page: http://www.armory.com/%7Espectre/ ** Computer Workshops: games, productivity software and more for C64/128! ** ** http://www.armory.com/%7Espectre/cwi/ ** |