Auto immune testing for person with extensive family history
September 10, 2014 6:43 PM   Subscribe

YANMD. I've had all kinds of weird undiagnosable stuff going on. I'm 29 female. There is a history of auto immune disorders (asthma, psoriasis, psoriatic arthritis, gall bladder removals, rheumatoid arthritis, other miscellaneous stuff) on the maternal side of my family(mother and grandmother).

I have asthma already. My mom had a positive rheumatoid factor at 24. She was wheelchair bound when leaving the house from 33 due to psoriasitc arthritis.
I don't feel like I have arthritis but I have a host of issues that could be explained. What I'm trying to find out is of this is worth bringing up to my PCP to get the tests? And how much family history of this stuff impacts my likelihood to get it? I'm asking this question to be able to push anf advocate effectively, and if it isn't worth doing is like to know as I'm sick of doctors in general.
posted by AlexiaSky to Health & Fitness (13 answers total) 1 user marked this as a favorite
 
What is the downside of bringing this up to the PCP? The reason you go to a professional for your health care is so that they can help you make decisions on your healthcare. Of course you should bring this up to your PCP and get a referral to a rheumatologist for testing and figuring out what's going on. If the tests turn out negative then all you've lost is a couple hours and a couple co-pays, and you can work with your PCP to explore other ideas.
posted by brainmouse at 6:56 PM on September 10, 2014 [1 favorite]


Yeah, definitely bring it up. Autoimmune disorders really strongly run in families, and a serious family history will probably raise some flags for your PCP. You might even want to sit down and do a little family tree that maps out who had what autoimmune disease.
posted by ArbitraryAndCapricious at 6:59 PM on September 10, 2014


Response by poster: I'm going to see my PCP regardless. I looking for information because I don't know anything about this. Our if she dismisses me I can say stuff like my family history makes it worth testing for because of zyx info.
posted by AlexiaSky at 7:32 PM on September 10, 2014


What I'm trying to find out is of this is worth bringing up to my PCP to get the tests? And how much family history of this stuff impacts my likelihood to get it?

You should bring up all of the symptoms you're worried about, your history of asthma, and your family's history of autoimmune disease (and which family members and which diseases specifically). Medical history and symptoms are always relevant, as far as I know.

Things that aren't relevant are things like, for example, your theories about the causes of your symptoms. If you talk to your doctor about those theories, she might let you go on and on, but she's probably going to dismiss all of what you say (I find this aggravating beyond belief, but it's pretty much always the case, at least in my experience).

There are some basic blood tests that your PCP will probably want to give you before sending you to a rheumatologist. If she wants to do those basic tests first, it's likely not a brush-off, it's likely to double-check that it's a rheumatologist that you need to see and not another specialist instead of or in addition to a rheumatologist. (Even if you do have an autoimmune disease, you might have to see a specialist other than a rheumatologist depending on the body part being attacked. For example, if you have an autoimmune disease causing your body to attack your thyroid, your go-to specialist is probably going to be an endocrinologist rather than a rheumatologist).

The test that got me sent to a rheumatologist was the ANA. All that test tells doctors is whether there are anti-nuclear antibodies in your blood -- if you do have them, it means you have antibodies against your own cells. Everyone has some small number of anti-nuclear antibodies, but the more you have, the more likely it is that you have an autoimmune disease. As far as I know, it's the most basic "does this person have an autoimmune disease?" test there is. Since you have asthma, though, I don't know if you'll need different tests or additional tests (esp. since the ANA gives false positives a fair amount anyway).

Once you go to the rheumatologist (or another specialist), she'll probably give you an examination and take a medical history, and based on what she sees, order more specific blood tests to give a (more) definitive diagnosis. At that point, it's still worth mentioning the autoimmune diseases in your family, but the doctor will probably care more about your specific symptoms because she'll be trying to give you a specific diagnosis (in contrast to the GP, who's more likely just trying to narrow things down enough to give you the correct referral). The good thing is that many diseases have specific tests that can give a yes-or-no answer as to whether you have that disease. The hard part is that there are so many tests and it might take a while before your doctor homes in on which one(s) she should give you (that was true in my case, anyway). So I'd recommend that you be prepared to start out with really broad, basic tests and slowly work from there until you get to the super specific yes-or-no tests. In hindsight, I would say that it pays to be patient but tenacious.
posted by rue72 at 9:27 PM on September 10, 2014 [1 favorite]


Bring it up, because autoimmune issues do run in families, but don't be surprised if the effects for you are different to the ones your female relatives have (different diagnosis, symptoms, treatments). My autoimmune symptoms are similar to my mother's in some ways, but very different in others.
posted by immlass at 10:07 PM on September 10, 2014


The problem with autoimmune blood tests is that they tend to only become positive when the disease is active (the ones that are positive all of the time, like ANA, are pretty non-specific on their own). So if you didn't have symptoms, there would be no point in testing you for arthritis, lupus, or any of the others despite your family history. And a negative blood test now doesn't mean you won't get the disease later, so there's no point in doing "screening" for everything.

Since you do have symptoms though, you should definitely see your doctor. The family history is likely to be a piece of the puzzle rather than the main focus though. It is definitely important to mention it (autoimmune disease is often overlooked, especially in men) but the investigations will be driven by your symptoms.
posted by tinkletown at 1:15 AM on September 11, 2014 [1 favorite]


It is definitely a good idea to keep your doctor up to date on your family's medical history. It might help to write out a chart before hand so you don't miss anything in the moment, and also so you can just hand the list off if you are feeling burnt out on doctors. Also include non-autoimmune conditions, as those could factor in ways you didn't immediately think of.
posted by fermezporte at 4:18 AM on September 11, 2014


We don't really think of asthma as being in the same grouping as psoriasis, psoriatic arthritis and rheumatoid arthritis. Asthma is not an autoimmune disease, and the fact that you have asthma does not mean that you're going to develop an autoimmune disease. There is a genetic component to most autoimmune diseases, but the environmental influence** is much more influential. Your mother's health problems are not necessarily yours to inherit, particularly these conditions.

Lots of people can have RF without rheumatoid arthritis, and the presence of ANA is not necessarily indicative that you will develop an autoimmune, either.

If you're experiencing symptoms, see your doctor. They will make the appropriate tests and referrals. If not, try not to worry about diseases that there is no guarantee that you're going to get.

**Nobody really knows what these environmental influences are, but the epidemiological and twins studies clearly demonstrate that genetics is a relatively minor player in pretty much all the autoimmune diseases (certainly the common ones), with some rare exceptions. If the genetic link to psoriasis was strong, we would have a prognostic test for it. We do not have any such test.
posted by kisch mokusch at 5:19 AM on September 11, 2014 [2 favorites]


If the genetic link to psoriasis was strong, we would have a prognostic test for it. We do not have any such test.
And that would be entirely relevant if the question were whether the OP definitely had an autoimmune disease or would definitely develop an autoimmune disease. But that's not the question: she asked whether she should tell her doctor about her family history of autoimmune disease when she goes in to discuss the symptoms she's experiencing. And she should, because my experience is that doctors don't typically ask about it and that it's not typically on the health questionnaires that I fill out at doctors' offices. Having a family history does not mean that you will definitely or even probably develop an autoimmune disease, but it does mean that doctors will be more likely to consider that explanation when you come in with symptoms.
posted by ArbitraryAndCapricious at 6:12 AM on September 11, 2014


I did, and it doesn't change my answer. Here is what the FAQ from Johns Hopkins Autoimmune Disease Research Center has to say about it:
Q: Are autoimmune diseases inherited?
A: Clinical and epidemiologic evidence as well as data from experimental animals demonstrate that a tendency to develop autoimmune disease is inherited. This tendency may be large or small depending on the disease but, in general, close relatives are more likely to develop the same or a related autoimmune disease. A number or genes have been implicated in causing autoimmune disease, primarily genes related to the human major histocompatibility complex called HLA.
That is to say: heredity is a factor in autoimmune diseases, although certainly not the only one, and a family history is a relevant issue that should be brought up with one's doctor if one is experiencing unexplained symptoms.
posted by ArbitraryAndCapricious at 6:34 AM on September 11, 2014


It should. Your original answer, "Autoimmune disorders [run] really strongly run in families", is misleading. It isn't that strong.
posted by kisch mokusch at 1:46 PM on September 11, 2014


Actually, that probably needs further clarification, since it's evident that you don't know what you're talking about. Finding an association between HLA and autoimmune disease is like finding an association between cars and car crashes. Autoimmune diseases by their very definition are T cell (and usually B cell)-mediated, and MHC is essential for mediating T cell functions. If you're going to get an autoimmune disease, the HLA type will likely indicate what type of manifestation the disease will have. But having a particular HLA type does not predispose you to an autoimmune disease, and cannot be used in any predictive manner. Your comments and advice here are misleading do a disservice to the poster.

Furthermore, the implied suggestion in your responses that the OP's doctor would be unable to take a proper family history, or that the poster would withhold details of her family history from her doctor unless directed not to by reading the answers here, is ridiculous.
posted by kisch mokusch at 6:06 PM on September 11, 2014


This is MY experience (more like nightshade screed). Other folks mileage may vary. Do NOT stop any treatment plans or taking any medications you may be on. Ahem, this is also not a pitch.

I was diagnosed with PA when I was 41 years old, or was it 42? Anyway I had experienced a general advance of symptoms over about nine months starting with pain in my shoulder after hyper-extending it exercising, couldn't shake that and then my toes and feet (sausage digit toes), shins and moving right on up my body until all joints were involved minus the spine. I was miserable. Finger joints were angry red; I was having to splint a couple of fingers on my right hand because the pain would wake me up at night.

At the same time my joints were inflamed I started developing psoriatic patches around the crown of my head - I had regularly worn a cap that apparently was causing irritation. That evolved to psoriasis all over my scalp, elbows, knees and back.

Went to my regular doc who told me he thought I had arthritis - I was shocked. Went back to my hometown country doc, where he noted I had an irritated umbilicus, pitting in my finger nails, joint pain and psoriasis - he left the exam room, came back with a medical book opened to the section on psoriatic arthritis and said, I think this is what you have. Again I was shocked.

I had great difficulty standing to walk, would have to stand, kind of make rocking twisting motions to get everything "warmed up" (feet, hips, knees, muscles) and then walk. Was absolutely miserable - pain at about a 7/10 level daily. I fully expected to be W/C bound if I did not experience any remission. All I was taking initially was ibuprofen.

Off to a rheumatologist. I was told, at the acuity I was displaying, I would likely have to start methotrexate soon. I asked for a couple of weeks to look in to options to which the MD said fine but cautioned on the need to start therapy soon. On reviewing that med I was a bit horrified, it's pretty powerful, and started looking for alternatives.

Went to a local bookstore, pulled all the arthritis books that looked interesting and read up.

Everything pointed to medications and powerful ones at that. Methotrexate, as discussed in the PDR alarmed me - just freaked me out basically. But then one item popped up several times. Nightshades. All references to diet solutions were negative - diets do not affect arthritis and are quackery, frauds, etc. Of course that piqued my interest.

There is a horticulturist, Professor Norman F Childers of the University of Florida, who had proposed eliminating nightshades from the diet can improve arthritis. He noted in animals nightshades are often toxic. He had eliminated nightshades as a trial for his own osteoarthritis achieving near total remission. Looking at his pitch was pretty nonsensical. Certainly sounded like hokum. Frankly though, I felt I had nothing to lose in trying alternatives. Again, everyone, Arthritis Foundation, other arthritis organizations, medical systems, etc. excoriate, or excoriated this approach. Scathing criticism. Again though, from my point of view I had nothing to lose.

Nightshades are plants of the genus solanacea; some nasty plants in there, jimsonweed, belladonna, deadly nightshade but including white potatoes, tomatoes, garden peppers, egg plant and tobacco. I started an elimination diet. Very difficult at first because those veggies are all my favorites, well, except for egg plant and tobacco.

Within three weeks I was no longer splinting my fingers at night and able to finally sleep on my left side again - the shoulder. Within nine months I had about 85% elimination of pain. From taking nearly six grams of ibuprofen a day I was down to a 500mg of naproxen twice daily. That was in the early nineties. Now I am essentially pain free - 98%. I take sulfazine (sulfasalazine) and minocylcine (in my case I had conjectured the arthritis was reactive, caused by an infection - psoriatic arthritis can be triggered by strep throat for instance, and I suspect I had a couple of bouts of that in my late thirties) and naproxen. Except for naproxen, these are conservative, old line therapies.

My psoriasis unfortunately has been a bit more intractable. I attend UV treatments which are helpful. Actually have had about a 70% remission with plaques and use prescribed topical corticosteroids.

I had posted on IRC internet chat groups in the eighties-nineties, now folded into Google Groups. You can see my posts from that time under the screen name WinSmth53@aol.com (not active), I believe within Google Groups WinSmth 53 as a search term. My usual post long ago that summarized MY experience with psoriatic arthritis and nightshades is at a link still at Google Groups.

I was often FLAMED when posting to the alt support groups, everyone stating diets are hokum. I always posted with the disclaimer that this is my experience. Didn't help, people flamed regularly. Some expressed a positive note and that was always gratifying. Now, nearly twenty years later there are more sites that have a somewhat positive take on nightshade sensitivity and eliminaiton. Just Google "nightshades" for more info. Dr Childers' has a site as well, I believe "No Arthritis."

When I mention the success I have had with my MD's, they typically look right through me. Yeah, uhm... comment scrunched up and thrown away - they could care less.

Nightshade elimination diet costs nothing, it's easy to substitute foods. Hey, it only took me about five years to not miss my favorite nightshade foods (:-/). Ugh. But, I arrested the joint damage and most importantly eliminated the pain. I still have arthritis - there is NO cure. You've got it? You'll always have it.

Sorry for the long note, one last experience. About four years ago I had a year where my Achilles tendons, bilaterally, swelled to about four times the normal size. Total inflammation I attributed to the psoriatic arthritis. Tendenosis is one of the components of psoriatic arthritis and can come and go.

I had great difficulty and pain in walking. In Dr Childers' discussion of his diet, "An Apparent Relation of Nightshades (Solanacea) to Arthritis" he also advocates elimination of synthetic Vitamin D and A. I had largely ignored that part of his book. One thing I noted with the tendon pain, I was buying a Starbuck's Mocha nearly daily that year. I finally gave that up and the tendonitis (including nodules) resolved in about six months. Was there a connection? I don't know but I now only drink organic whole milk without Vitamin D/A. There are a couple of brands out there without the D/A.

At this point I have three pea sized nodules on the tendons in the palm of my right hand and on the bottom of my right foot. I will concoct some approach to resolve those one of these days.

Finally, I promise, last rambling, if you smoke cigarettes you must stop. If you can't eliminate tobacco products, the nicotine, forget the rest. Notwithstanding the common knowledge about the negative effects of smoking, the nightshade related substances are potentially neurotoxins. Look up solanaceae poisoning symptoms on Google. Purdue University used to have some good stuff. USDA has some stuff on nightshades. Symptoms can include dry mouth, arrhythmia, breathing problems, dry eyes, flushed skin, digestive issues among others.

Look up the nightshade associated glycoalkoloids, solanine, chaconine, tomatidine, nicotine. The Feds even now recommend Folic Acid to avoid the toxic effects of alpha-solanine which contributes to neural tube defects, that is, spina bifida, though no one makes the direct connection to eating nightshades. I take Folic Acid; it supposedly helps clear the solanine alkaloids more quickly.

There is nothing to sell, nothing to buy in making the dietary changes. If you are one of those sensitive to nightshades, give the diet a try for at least three to five weeks to see if your pain and symptoms diminish. When I was eliminating the nightshades as little as a tablespoon of salsa or ketchup would cause a flare. To give the diet a proper try, totally eliminate nightshades. They can be in soups as potato starch, vitamins as sourced from green bell peppers, paprika - a garden pepper, oleoresin of paprika in Cheeze Its, hot peppers (not black pepper corns), amazing how many products they're in.

Anyway, hope this helps.

Regards
posted by WinstonJulia at 3:20 AM on May 31, 2015 [2 favorites]


« Older Awesome day trips from Prague, Krakow, and/or...   |   How should I navigate this grad school minefield? Newer »
This thread is closed to new comments.