Marfans anyone?

[briarrose]

Does anyone else have Marfan's in their family?

I just found out that we now have 3 Marfan's patients in my family. 4 potential POTS patients, 2 of them that haven't been given the diagnosis yet, all on my mothers-mothers side of the family. We also have a very strange blood clotting factor in my family that has caused 1/3 of my mom's family to die from Pulmonary Embolism.

I'll take POTS over Marfans hands down. A good friend of mine from work has Marfan's and lost her brother to it 3 years ago. She has had the heart surgery and both of her girls have it. Marfan's is scarry and can be fatal. POTS only makes you feel fatal

For those of you who are curious what Marfan's is, here is a cut from a webpage

About Marfan Syndrome: What is Marfan Syndrome?

http://www.marfan.org/nmf/GetContentReques...?menu_item_id=2

The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In the Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, the Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.

The Marfan syndrome affects men, women and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder. For more detailed information, read an excerpt from the NMF booklet The Marfan Syndrome

[MightyMouse]

Nope, no Marfan's in my family. Just a whole bunch of collagen disorders (my great aunt died of scleroderma...my grandmother died of seconary amyloid disease, with the primary cause unknown, but may have been a collagen disorder--she had clotting problems too).

Nina

[persephone]

is collagen deficiency related to Reynauds? Scleroderma is like Reanuds, isn't it? I have Reyanuds and have noticed that when my pots is worse, my hands and feet are FREEZING.

[briarrose]

Sorry Persephone I'm not familiar with either scleroderma or amyloid.

I know that many of us suffer from cold extremities but in most cases it's not diagnostic of Raynaud's.

Thx both of you guys. I was just kind of curious today.

[MightyMouse]

While scleroderma is an autoimmune disorder, like Raynaud's, it's quite different can often fatal. It's the oposite of my stretchy collagen. My great aunt's collagen became hard/brittle, even inside her body, which no longer allowed her organs to function correctly.

http://www.scleroderma.org/medical/overview.shtm

Primary Amyloid is when the body accumulates protien desposits. Secondary amyloid means:

"a chronic infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, osteomyelitis, or granulomatous ileitis. The deposits inthis type of the disease are made up of a protein called the AA protein. Medical or surgical treatment of the underlying chronic infection or inflammatory disease can slow down or stop the progression of this type of amyloid."

-above quote from:

http://amyloid.bu.edu/amyloid/Information%...%20patients.htm

Basically, the amyloid deposits built up in my maternal granmother's organs and that's what she died from. Her sister was the one with scleroderma. My mother doesn't want to admit it, but she's got mild EDS (extra stretchy collagen)--she has the skin issues with bruising and scarring, very stretchy skin (I do not, my skin looks pretty normally). However, my mom's joints aren't as problematic as mine, but she does have similar spinal issues to mine, early osteoarthritis of the spine, and scoliosis. I have that, plus joints that are way too loose.

Nina

[briarrose]

Nina

I have just one more question.

Do any of those conditions that run in your family, including your own, cause the small tumors under the skin that you usually don't notice until they start itching? This is one thing that I normally don't bring up with POTS but now I'm starting to wonder about collagen disorders.

Thx for any input or answers you can provide.

Steph

[steph37822]

Hi Steph, I have Marfan's and by looking at family pictures, and talking to relatives, several people in my dad's family probably had it or have it, but it hasn't been a problem for us. Although a couple of my aunts, and great aunts have had valve replacement surgery because of MVP.

I simply get an echo done once a year, and see Dr. Grubb and a local cardiologist every 6 months to get my valves checked.

Many medical historians think Abraham Lincoln had Marfan's, so I always felt like I was in good company!

Do you have it, or your kids? Or just relatives? I know it can be bad in some cases, but my docs don't think it will be any more damaging in me than my joint hypermobility or POTS. It's just something we keep an eye on.

Take Care

-Steph

[MightyMouse]

what you described sounds like erythema nodosum--I had it when I was on some medications and it went away after I stopped taking them (hormones to treat ovarian cysts). They were on my shins and foreams.

Nina

http://www.nlm.nih.gov/medlineplus/ency/article/000881.htm (medline link to info)

[Ernie]

I am not aware that Marfan runs in my family. We have many other rare disorders but not this one!

Ernie

[Michelle Sawicki]

"Small, harmless bumps under the skin" can be a sign of Ehlers-Danlos syndrome.

See http://www.findarticles.com/p/articles/mi_..._65/ai_87027912 for more info.

Best wishes,

Michelle