Questions - first steps and aneurysm

[Sarah888]

Hi,

I was always wondering why my boyfriend is so tall and skinny... A few days ago, he told me that he has Marfan, "something that makes you grow tall, and that may causes eye problems". Yesterday, I finally read more about it and found out that the problems can be much more serious. Actually, reading about the life expectancy without treatment left me shocked, since he is not under treatment at all yet.

Some facts: He is 29, Marfan was diagnosed when he was 11. Very tall & skinny, one eye lens has problems, nothing else he or we know at the moment. At the age of 11, one of his heart valves was enlarged, operation was recommended, but not conducted, they just observed it over years. At another check (he was 24), they said the enlargement was declined.

Since then, he has been for standard heath checks a few times (the last one is more than 2 years ago), but no special checks have been made. Actually, he didn't know much about the syndrome, also, he didn't take it very serious (playing basketball for years, smoking & drinking too much, etc).

Yesterday, we talked – just having found out about it a few hours ago, I hope I managed to strike the right note of making clear that he needs to do something, without making him panicking. We will go for the first cardio checks next Thursday, other checks will follow asap.

We live in China, and as far as I know, there is no hospital specialized in Marfan in our city. I would be happy if someone could help me finding out about these questions:

1. I heard that it is possible to make a test on what subtype of Marfan he has (even if this test doesn't always provide a clear result) – does this test make sense?

2. After what I was reading for now, aneurysm is the most urgent problem we have to check on as soon as possible. What checks exactly need to be done for that?

3. Since not everyone seems to have all symptoms – is there any study telling how high the chance of an aneurysm is?

Thank you so much in advance. (And please don't mind my English, I'm german.)

Sarah

[akm3]

Hi Sarah,

I'll try to answer your questions:

1. Yes, its possible to do such a test. It may cost between 3000 and 8000 USD, sometimes the insurance covers it. In my opinion, the test can make a little bit sense in some cases, but is not really important in most cases. Currently, the genotype - phaenotype correlation in Marfans is rather low. Therefore, even if you know the exact mutation you have, it does not tell you too much about the symptoms you can expect. It just gives you a weak hint. Is he the first one in his family having Marfans? If not, the symptoms of his relatives may be a better hint what he has got to expect.

2. To check for the aneurism, you should go for an ultrasound echo about once a year. Once in a while, for example after being diagnosed, you should have a CT or MRI scan of the entire aorta, not just the aorta in the thorax. Sometimes aneurisms can be located in the abdominal area as well.

3. As I said above. You cannot know which symptoms you will develop. The aorta and the eyes are the most important ones to check first. Be aware how a dissection of the aorta would feel like. Or a pneumothorax. All the other symptoms you won't need to look for, they will find you instead.

In general I want to say: Don't you worry too much about this Marfans thing. Go for regular checkups of the aorta and the eyes. Check this forum for medical treatment with ARBs and ACEi, those drugs will hopefully soon change the impact of this sydrome dramatically. There are even new approaches of how you can do family planning. Besides of that, live a happy life anyway.

[Sarah888]

Akm3,

Thanks for your quick and clear reply. We will skip the subtype test then, and just check the heart. Already made an appointment for Thursday - fingers crossed that everything will be fine. As we live in China, we better should figure out some emergency plan - but this we can discuss with the doctor.

I will still read about medication, also curious about the family planning approaches you mentioned (we don't have children yet).

Anyway, thanks alot,
S

[akm3]

Hi Sarah

Family planning:

The first thing you need to do is to go for the complete genetic test. This may take up to a year or more, depending on how frequent your mutation is. Once you have the mutation, the 'small' test for your relatives and children will only take some weeks each. The 'small' test costs about USD 400. We have done this 'small' test with both our children and that's why we know that only one is affected and needs screening (and possibly drugs), even though it has no severe symptoms yet.

Having the information of your mutation you can use a method called PGD:
basically thats an in vitro vertilization, where you check the vertilized oozytes for the known mutation before you implant them into the uterus.
http://en.wikipedia.org/wiki/Preimplant ... _diagnosis
some links in german:
http://www.sf.tv/sendungen/10vor10/inde ... d=20090317
http://www.marfan.ch/cms/front_content. ... =191&m=&s=

This is an ethically very difficult area, and I hope nobody gets upset about me posting this. I just post it for the benefit of those interested in it. I believe everybody needs to decide this kind of things for himself.