Diagnosis

Getting a definitive diagnosis can be a daunting and exasperating experience. It reinforces one of the reasons a patient is called a “patient.” Dr. Alessio Fasano is the director of celiac research at the University of Maryland, who published the landmark study on the incidence of celiac disease in the United States. Having arrived here from Italy he was completely astounded to see that US doctors are not trained to look for celiac disease. In Italy every child is screened for celiac disease. Celiac patients here spend an average of 10 years seeking a diagnosis. Today, only about 110,000 out of the estimated 3 million celiacs in the US have been diagnosed. This does not include the approximately 30-90 million gluten sensitive people who are struggling with chronic illness. Thanks to Dr. Fasano, celiac awareness is being brought to the forefront but something needs to improve on the diagnosis end of things, so to speak.

The traditional diagnosis of celiac disease is through blood work to detect antibodies to gluten and by intestinal biopsy to confirm damage to the intestinal villi. If both tests are positive, the person is diagnosed with gluten sensitive enteropathy and is prescribed a gluten free diet for life. This narrowly defined diagnostic guideline is not logically sound. Positive test results definitely “rule in” celiac disease, but negative results do NOT “rule it out.”

Dr. Rodney Ford, “Dr. Gluten,” is a pediatrician from New Zealand and his site is worth checking out. He has given up on the “wait and see” approach to diagnosing children. Many doctors are adamant that both blood work and intestinal biopsy must be positive before they will make a positive diagnosis of celiac disease. Dr. Ford realizes that celiac disease is a progressive disease and that histological intestinal damage can take years to develop. In the meantime the child is unwell, waiting for the diagnosis. He believes this is inhumane as irreversible growth failure and needless suffering can occur. He carefully scrutinizes the blood work results and may order a biopsy if appropriate, looks at the genetic status and symptoms and makes a “preemptive” diagnosis of “early celiac disease” if indicated. If the child improves on a gluten free diet, that is the diagnosis. He says, “The evidence shows that you cannot rely entirely on the small bowel biopsy for your diagnosis of celiac disease.”

Dr. Cris Reading, M.D. wrote a book titled “Your Family Tree Connection. How to use your past to shape your future health.” (It is out of print, but sometimes available online). This book is very enlightening and caused me to look more holistically at my family tree, learning that gluten sensitivity is definitely on my father’s side. On my mother’s side, there is not even osteoporosis, a very common effect of celiac disease because of malabsorption of vitamin D and calcium. No autoimmune diseases, no diabetes, no Parkinson’s, no senility…..live to be 104! But my father was a “sickly” child who in his sixties woke up one day with a fever and a diagnosis of rheumatoid arthritis.

Dr. Reading says, “When the diagnosis is in doubt, consult your family tree.” He also understood the misery of misdiagnosis and the dangers of waiting for the definitive one. He studied over 2000 family trees of patients who were frustrated in seeking a diagnosis for their misunderstood illnesses. This complex little book could be summarized this way. Look at your family tree. Do you see autoimmune diseases such as rheumatoid arthritis, lupus, or type 1 diabetes? Do you see neurological problems such as seizures or neuropathy? Are there mental illnesses such as schizophrenia, manic depressive disorder or depression? Are there digestive disorders such as colitis, diverticulitis, irritable bowel syndrome? Are there skin diseases? What was the common nutritional discovery among his patients? Grain and milk intolerance and their corresponding nutritional deficiencies, among other things, due to malabsorption. Dr. Reading is worth reading.

My point is this. Take a few minutes and look at your family tree. You could even draw a diagram and list the illnesses in your family. I don’t mean to say you could make a definitive diagnosis by doing this, but it will open your eyes to the genetic pattern of celiac disease and gluten sensitivity. It might give you a new connection to your heritage and a fresh dedication to protect future generations from choosing the wrong food.

Gluten sensitivity (GS) is even more elusive to diagnose than classic celiac disease, especially since most doctors are not aware of the non-celiac, gluten sensitive part of the population. Dr. Fasano has determined through research that about 1% of the US population (2-3 million) have celiac disease with positive blood and intestinal tests, and about ten times that amount are non-celiac gluten sensitive! (20-30 million).

People who complain of vague, seemingly unrelated symptoms, such as depression, body aches and malaise are often sent to a psychiatrist. It would also be very rare for a patient who has an autoimmune disease to be screened for gluten sensitivity and yet the correlation between GS and autoimmune disease has been well documented. Celiac disease is an autoimmune disease! Gluten syndrome is a brain, gut, and/or skin disease (and more) but the emphasis continues to be on celiac disease as the only symptom of GS.

To complicate the problem, blood tests are sometimes false negative which leads the doctor and patient to wrongly believe that he or she is does not have gluten syndrome. Since GS is a disease in process, intestinal biopsies can be false negative, even for classic celiac disease. There is now a recommendation to take “lateral” biopsies of the intestine because the damage can be spotty. It can take many years for intestinal damage to occur so the person can be suffering the far reaching effects of GS with a negative biopsy. If a gluten sensitive person continues to eat gluten the result is devastating to his/her health in some obvious or insidious way. GS is a serious condition that can lead to many facets of poor health and even death, so it is vital to deal with this issue once and for all.

Dr. Fine, the director of Enterolabs, believes that since 70-80% of the immune system is in the intestine, and because this is where the war between toxic gluten peptides and the immune system is initially carried out, a stool sample provides the best analysis for gluten sensitivity. He believes through his research that about 30% if the US population is gluten sensitive. (90 million!)

It is very wise to check for casein allergy, too. GS and casein intolerance go hand in hand. You do not need a prescription to order the tests. The test kits come in the mail with instructions. The lab is FDA approved. The info on his site may be helpful to you. (See Resources) Dr. Fine, is considered to be a “maverick” by some who adhere to the intestinal biopsy standard of diagnosis. My personal belief is that an accurate and simple test needs to be implemented to identify our gluten sensitive and pre-celiac children and adults early on. This would save broken bodies and broken hearts. So, I say, “bravo” Dr. Fine, but that is just my humble opinion.

Having a diagnosis in hand is good for a couple of reasons. One is that you may take the lifelong diet more seriously if it is officially verified. Another is that your family may more readily support your gluten free lifestyle if you can say the testing was positive. It is also good to have the diagnosis in your medical records for insurance purposes. But, if none of the tests is definitive, the gold standard is how you feel on the diet. If gluten makes you sick, don’t eat any! The treatment for gluten sensitivity is simply a lifelong strict avoidance of gluten.

Once you have been gluten free, I don’t think it is wise to decide to do a “gluten challenge” to be tested at some later point. Dr. Ford actually believes that a gluten challenge can be done later if the patient is curious and was diagnosed as a child without positive test results. I part ways here with Dr. Ford and humbly disagree with this very good doctor on this point, but that is only a gut instinct. I believe that uncomfortable or dangerous reactions to gluten could result.

God speed,
Margery

Disclaimer: It is very important to rule out conditions that may need medical attention. Diabetes is one example of a disease that can accompany celiac disease as well as anemia and bone loss. Be sure to be under a doctor’s care while making the transition to the gluten free diet. I am not a medical doctor and cannot diagnose or make medical recommendations. This blog is not meant to take the place of medical care.
The information on gluten sensitivity is growing moment by moment and the understanding is changing. This site will continue to grow and change along with it. There are differences of opinion on the causes, how to diagnose, and how to implement gluten free living. This blog is reflective of my life experience and the research I have studied and is my opinion only. This blog is for learning purposes and to broaden the resources and view of gluten sensitivity. None of the authors quoted is infallible. Always seek medical care from a competent medical, osteopathic or naturopathic physician.