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DigitalBlue's avatar

Should we be exploring a potential genetic link to autoimmune disease within my family?

Asked by DigitalBlue (6658 points ) July 16th, 2012

My sisters have both been diagnosed with auto-immune disorders. My middle sister has severe psoriasis and psoriatic arthritis, my youngest sister was recently diagnosed with mixed connective tissue disease, which is apparently quite rare. She and my mother both have von Willebrand disease and Raynaud’s, which are shown to have some links to autoimmune diseases. I have two first cousins (on my mother’s side) with lupus, which (to the best of my knowledge) is believed to have genetic links.

No one else in my family (including myself) have ever been tested for autoimmune disorders. I rarely ever go to a doctor, so I personally have not had any kind of testing at all in quite a long time. Growing up, however, my doctors were always checking and monitoring my thyroid (hypothyroidism is also very prevalent in my family), because I have always had strong symptoms, but normal levels. All in all, we have always jokingly said that we are just victims of bad genes, since everyone in the family always seems to be ill in some way. It has become a running joke that one of us, or several of us, are constantly falling apart. It isn’t an issue of hypochondria, we just seem to be an unlucky bunch as far as health goes.

Is it possible that there is some underlying condition, or genetic predisposition to something specific that may be at the bottom of my own and my family’s chronic (and seemingly “rare”) illnesses? Perhaps being overlooked, since it has never come up before, and we all have seen different doctors up until recently? Now we are all going to the same physician, and it occurred to me that there may be some benefit in trying to see if it all ties together to some common, genetic link? Or is it just far more likely that this is a fluke? Should I look into testing for autoimmune disease for myself, am I at higher risk, or is this something that I shouldn’t concern myself with?

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11 Answers

Pied_Pfeffer's avatar

If I were in your shoes, and if I wanted to procreate, then would get tested. It might make the difference between whether I had a child or adopted. It might make a difference if I were to find a life partner and they wanted us to bear a child vs. adopt. I would also like to know what my chances are for fighting and surviving a potential illness. Not having any current symptoms and not being tested doesn’t mean that you aren’t at risk. The decision is up to you whether to pursue finding out the possibilities and dealing with the results. My best wishes for you in whatever you decide to do.

DigitalBlue's avatar

@Pied_Pfeffer thanks, that is essentially my line of reasoning. It seems like it would be good to know, for a countless number of reasons, but the different diagnoses, along with there being no clear genetic link made me wonder if I am worrying for nothing. Not that I am losing sleep over it, but, it just seems like a lot of coincidence to completely rule out that there are no genetic factors involved that may affect more than just the people in the family who happen to have been tested.

Sunny2's avatar

What will you do differently if the answer is, “Yes, you will have an auto-immune disease?” What’s the cost of the testing? Which diagnosis will you get? If you will have it, when will it hit you? Will the tests tell you more specifically what you are in for?
Or will you just learn that you have a gene which will dispose you to contracting an unspecific autoimmune condition?

DigitalBlue's avatar

@Sunny2 I have no idea. That’s basically what I’m asking. I don’t even know if there is any reason to think that there might be anything wrong at all. It really might be coincidence, but I don’t know enough about auto immune diseases to know if that is more likely or less likely. Beats me.

If I were to get tested (I’m not sure what all that entails, other than bloodwork), and did find that I had some type of sneaky disorder, I would imagine that I would begin treatment or medication. I do have insurance, so it isn’t like it would be incredibly difficult for me to seek out testing (compared to a time when I was uninsured, at which point I wouldn’t have even bothered asking this question), but I don’t know if I’m going to go in and tell this story to my doctor and have him respond with a raised eyebrow and a “you’re paranoid” look.

I’m not sure how it works. I assume that it makes sense that others would connect the dots the same way that I have. If related illnesses started popping up in your close family members, wouldn’t you imagine that there is a hereditary factor, or that you are at risk? But, I also recognize that it doesn’t make it true just because it could make sense. :)

Adirondackwannabe's avatar

I would get tested. I want to know what I’m carrying. Then I can decide if I want to pass it on. And yes, I am carrying some stuff. The words genetic counseling were in my letter.

Sunny2's avatar

I guess your next step is to see a physician whom you trust and ask questions. I have an auto immune condition which the doctor thinks is caused by environmental elements. It is primarily a mild nuisance to me. I think auto immunity is a relatively new field of specialty. Find out everything you can so you can ask questions.
Good luck.

Adirondackwannabe's avatar

My testing was easy. They drew about 6 tubes of blood and that was it. If you have a question about it get it done, it’s much easier if you know what’s going on.

bewailknot's avatar

If it were me I would get tested.

On a related subject – I wonder it there are any studies going on that may be enhanced by your family participating?

zenvelo's avatar

@bewailknot I was thinking the same thing, I bet a company like Genentech would cover the cost of testing everyone in your family and potential spouses and giving you a map of known markers and suspected markers.

augustlan's avatar

My family is similar to yours, @DigitalBlue, right down to the Von Willebrand. Testing is usually looking to see if you’ve developed any weird anti-bodies, so it’s just blood work and maybe a urine sample. That said, diagnosing auto-immune disorders is no easy task, sometimes. For instance, I’ve tested ‘positive’ for both lupus and RA, more than once, but don’t actually have either one. Yet. I and many other family members have plenty of other AI issues, though.

At one time, a friend who is a doc (and who used to be a jellie) recommended that I ask for a referral to a diagnostic ‘super doc’, at someplace like Johns Hopkins. He felt I had a better shot at getting to the bottom of it that way. Unfortunately, at the time, I had no insurance. I may look into it further now that I’m insured again.

Bottom line, it certainly couldn’t hurt to talk to your doctor about your family history and get his input on whether pre-emptive testing is a good idea or not. At least it will put it on his radar.

Buttonstc's avatar

I’m not quite sure where you find them or how you get to see them, but it might be worthwhile to see a genetic counselor prior to doing anything.

I know that they are frequently seen by pregnant patients to guide them through the whole minefield of genetic testing and decisions to make about their pregnancy.

But I can’t imagine that they restrict their clients to only those who are pregnant. Having someone specialized in this area to help you sort everything out could be enormously beneficial I would think.

Altho the Dr. can order whatever tests are required, they don’t have the same depth of knowledge as someone who specializes in dealing with the results of these tests and can help you to mentally and emotionally prepare for whatever your results might be.

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