Is A Biospy Absolutely Necessary?

[KAthyB]

My daughter has been suffering with many symptoms for 18 months, lost 20 lbs, lots of hair and muscle tone. She had a neurologist for headaches and a Cardiologist for vaso depressor syncope and had joint problems from Ehlers Danlos Syndrome but when she lost the weight it took about a year to convince her doctors she wasn't suffering from a eating disorder. In May her TTG and EMA tests were so positive that the GI apologized about having to do a biospy but lo and behold it was negative. My daughter was advised to cut back on meds for the syncope (florinef and tons of potassium tabs) and see if she improved. She contiued to lose weight, hair, energy and had lots of leg and joint pain. The GI ran the two blood tests again and said they were once again positive that another biopsy wasn't necessary since it could still be negative regardless of the fact that she has Celiac disease. She has been gluten free since 12/23/03 and now I'm second guessing about the biopsy. Does anyone out there have any advice? It's not that I'm in denial about the disease but it is life altering and I don't want to take a chance that the diagnosis isn't correct.

Kathy

[seeking-wholeness]

Kathy,

Did your daughter's doctor discuss exactly what the tissue specimens looked like under a microscope, or did he just say the biopsy was "negative"? Some doctors/pathologists don't give a diagnosis of celiac disease unless the intestinal villi are completely destroyed. (This is, of course, just as ridiculous as refusing to consider a woman pregnant until she reaches her due date!) Also, even if several specimens were taken, the damage to your daughter's intestine could be "patchy"--and since it is usually invisible to the naked eye, anyway, the doctor would have had no choice but to rely on blind luck when selecting the specimen sites, and he may have missed the damaged areas.

It is my understanding that a positive tTG test is fairly conclusive for diagnosing celiac disease--people don't just go around randomly manufacturing antibodies to their own tissue! It may be possible to have antibodies to *gliadin* without having any autoimmune reaction, but when you also find anti-tTG antibodies floating around, that pretty much clinches the celiac disease diagnosis. If you still have doubts, Open Original Shared Link has a gene test available that you could order for your daughter. If it is positive, your daughter's symptoms are almost certainly caused by celiac disease and a trial of the gluten-free diet is most assuredly in order. If it is negative, she CANNOT have celiac disease (unless there is a third, undiscovered gene still hiding out there) and it becomes necessary to look at other causes for her troubles.

In addition, don't forget that the third "prong" of the gold standard for diagnosing celiac disease is improvement on a gluten-free diet. Your daughter is just starting out with this now, and it may take weeks or even months for her body to heal enough that it begins to show outwardly. Don't give up if her progress seems slow, and remember to expect some setbacks. Many people become extremely sensitive to tiny amounts of gluten after going gluten-free, and it can often take a year (or more!) to learn all the ins and outs of this new lifestyle.

And lastly, while it is vital that an individual with celiac disease make a LIFELONG commitment to remain gluten-free, if it turns out that your daughter does not carry the gene for celiac disease and so does not have it after all, there is no harm and no shame involved in having tried the gluten-free diet. It is much better, from a health standpoint, to make the switch to eating gluten-free based on the doctor's current diagnosis and then find out it wasn't necessary than it is to put off the switch until the damage done is severe enough to produce a "positive" biopsy!

Welcome to the board, and I wish you and your daughter the best of luck as you adjust to the diagnosis and diet!

[KAthyB]

Sarah,

Thanks for you reply. The doctor did not go into detail about the biopsy but did say she could have missed it if it was patchy. The doctor is from Children's Hospital of Phila. and seems very knowledgable about the subject. I will discuss the genetic testing with the doctor. I have three children and I am also concerned about my 22 year old son. I compliment you on the professionalism of your response. I am in the learning process and welcome the information.

KathyB

[seeking-wholeness]

KathyB,

Thanks for the compliment! I try very hard to be maximally informative without giving offense.

I live in the Philly area--out west, beyond the suburbs. Where are you located, if you don't mind my asking? It would be neat if you were close by!

I'm glad your daughter has a knowledgeable doctor, and I hope the doctor agrees to perform the gene test. I believe some conventional labs can perform it, as well as Enterolab.

Good luck!

[DLayman]

Like Sarah said there is no harm in placing your daughter on a gluten free diet. I think you will find that it is a rather healthy diet actually.

There is also a diet called the specific carbohydrate diet that is the original celiac diet from when doctors were first figuring this disease out. You might want to look into it as it is a diet meant to help a person such as your daughter, recover and gain weight through eating select foods that are 1. gluten free and 2. easy for the system to digest because of their basic chemical makup.

My son is going to have an endoscopy next week and I will wait on that and bloodwork till I make a decision on what to do He has already shown improvement on a gluten-free diet, but if he is diagnosed I will go that step beyond the gluten-free diet to the specific carbohydrate diet.

I also have to see about my other three kids as they are showing alot of non'classical" signs of celiac disease

oh a site to look at for the specific carbohydrate diet is: www.breakingtheviciouscycle.info and www.pecanbread.com

[KAthyB]

Sarah - We live in Springfield, Delaware County. My daughter just found out another student at her school has Celiac disease and the nurse is going to set up a meeting. Talking to others with this disease is great medicine in itself. If we don't live too far apart maybe we could meet up for a gluten-free meal.

DLayman - Thanks for the tip. It's hard to imagine eliminating any more food from her diet since she isn't eating much but I do believe you have a great idea. We'll consider it. She does seem to have a lot less stomach trouble on the gluten-free diet but she has gone from Strep throat to the Flu in the past two weeks so I know her immune system needs help. Thanks again

KAthy B

[des1713]

Hi Kathy,

So sorry to hear about your daughter's situation, 18 months is a LONG time to not feel well. I was extremely interested in your post because the symptoms your daughter has experienced are very similar to my own. In the last eight months I was diagnosed with gluten sensitivity and also began taking florinef after a positive tilt test --- both presented at the same time and while I cannot get a doctor (primary, gastro, cardio or neuro) to connect the dots, my reality is that these symptoms/events are related.

I first saw a gastrointerologist in April 04 for rectal bleeding and was given Metamucil, psyllium, a fiber supplement. By coincidence my gastro is well known in the celiac field and suspected based on my symptoms that I may be gluten intolerant and ran the blood test. The blood test came back negative.

After several weeks on the fiber supplement I experienced greatly increased bowel movements and some weight loss. In June 04 I had the first of about 6 frightening episodes that involved feeling very dizzy/lightheaded, legs weak like jello, heart palpitations, numbness like blood was draining from my hands, just short of passing out. With the onset of these episodes I experienced a weight loss of 20 lbs over about 6 weeks, acute acid reflux and total loss of appetite, I could NOT eat.

My Primary care Dr. was fairly useless and said the near- fainting episodes were likely "anxiety" related and he put me on priolsec for a month for the reflux. The sudden and continued weight loss did get them to take this seriously though. After a few more of the dizzy episodes I was advised to see a cardiologist. The first cardiologist said when the gastrointestinal problems were resolved the episodes would probably subside. He suggested the vagus nerve was possibly being irritated by my gastro problems, a distended stomach or something like that.

I quit the fiber supplement on my own as this was the only change in my diet before becoming so sick, I did not have any dizzy episodes for over a month. My hair was thinning over the entire time. Since you said the doctor mentioned it, is there any reason to suspect an eating disorder or laxative use by your daughter?

In August 04 after little improvement on the prilosec I returned to the gastrointerologist, remember an expert in celiac, who performed a biopsy, it came back positive. Negative blood test/positive biopsy or vice versa is not uncommon he said. The pathology / high T cell activity was, in his opinion, consistent with either reactivity to gluten or cows milk protein. The doctor said it was likely gluten but in light of a negative blood test, he said the only way to tell was to eliminate both for 3 months and reintroduce cows milk later. He had me see a nutritionist to work up a diet/meal plan, I WOULD RECOMMEND THAT! I've since reintroduced dairy without much reaction.

I started a casein free/ gluten free diet in Sept 04. Within 2 weeks I saw noticeable improvement in my gastrointestinal symptoms but continued to lose weight likely due to adjusting to the diet. BUT just as I thought they'd finally figured out what was wrong --- the dizzy/near fainting episodes came back and escalated, to the point I had a major attack in Sept. that was close to a seizure with a clenching jaw, trembling and weakness in the legs. This got me sent to a neurologist, my gastroenterologist suspected autonomic dysfunction.

AFter that major episode in Sept. my symptoms were present daily, I was unable to stand for any extended periods of time without feeling like I would collapse. Could just barely get to work and back, couldn't go to the grocery store because I would get so dizzy after 10 minutes.

The neurologist said it sounded like postural hypotension, a type of syncope. He referred me to a new cardiologist and who did an event monitor and a tilt test that came back positive for postural hypotension. The tachycardia I exhibited during the test sugegsted the hypotension was related to decreased intravascular volume, not enough circulating blood, this can be caused by a number of things including dehydration.

I also had a cortisol test since Postural hypotension can be a sign of Addisons disease, an auto immune disorder of the adrenal glands. TThis was negative. There may likely be an underlying vaso depressor cause with my postural hypotension they indicated.

I have been on florinef for 2 months and have definitely seen some improvement, especially after the dose was increased from .1 to .2 mg, though my potassium is now low on the higher dose.

I am still no where near where I want to be health wise, but I am improving and grateful for that. I continue to seek someone to tie it all together. I will always point to the metamucil/fiber as the trigger. A gluten free diet is NOTHING compared to the symptoms of pre-syncope. Dealing with both is often depressing.

The cardiologist and the neurologist seem pretty convinced it is NOT neurological, the cardiologist says determining the cause of the decreased blood volume is not in a cardiologists domain, they can just treat the symptoms of hypotension. My primary care doctor says ask the specialists and I tell him they say ask him, he says he can't come up with anything, my other blood tests are normal, but it doesn't sound like MS or leukemia or all my other fears. SO I am seeking a new primary care doctor and believe in my gut that there some relationship between all of these symptoms but I don't have the right doctor YET