All About Celiac

All About Celiac

Celiac Syndrome is a collection of symptoms caused by a genetic intolerance to the protein gluten.  Those who have the problem are born with it.  Gluten is found in many grains such as wheat, barley, rye andoats.  Related proteins are found in spelt, triticale, kamut and other grains.  Oats have a slightly different type of gluten that sometimes reacts in the body like wheat gluten.  Gluten is found mainly in foods, but is also found in products we use every day and even some medicines. 

Celiac Syndrome starts as a digestive disorder that damages the small intestine and interferes with absorption of nutrients from food.  The poor absorption as well as the resulting ďleaky gutĒ causes many of the symptoms in Celiacs.  The intestinal damage may be seen on biopsy of the small intestine.  When people with Celiac Syndrome eat foods or use products containing gluten, their immune system responds by calling out an immune system attack on the small intestine.  The tiny, fingerlike protrusions lining the small intestine are damaged or destroyed.  Called villi, they normally allow nutrients from food to be absorbed into the bloodstream.  Without healthy villi, a person develops a "leaky gut" letting bacteria and proteins which would not ordinarily be there into the blood.  All these foreign things in the bloodstream then cause allergic reactions and recurrent illnesses.  Celiacs have progressive difficulty absorbing vitamins and nurtrients and can become malnourished, regardless of the quantity of food eaten. 

What's in a Name?  Dr. Rima Kittley, the founder of our East Texas GIG group, coined the term Celiac Syndrome in August, 2005 because she does not consider a genetic intolerance to gluten a disease.  Why call it a "disease?"  Pneumonia is a disease.  Strep throat is a disease.  You can (hopefully) cure these with antibiotics.  Down's Syndrome is a genetic problem, not a disease.  People with Down's Syndrome aren't sick.  As it turns out, people with Down's Syndrome have a much higher incidence of Celiac.

Celiac Syndrome has a better sound to it than Celiac Disease.  If you stay off gluten, you're not sick!  Like any genetic syndrome, it runs in families, so those who have the problem are born with a tendency toward developing gluten intolerance.  They got the genes from their parents and pass it to their children.  But you donít actually develop Celiac Syndrome until something triggers the immune system to start the assault.  Full-blown biopsy-provable Celiac can become active for the first time after a major stress such as surgery, pregnancy, childbirth, viral infection or severe emotional stress.  However, gluten intolerance severe enough to have intestinal damage is just the "tip of the iceberg."   Some people have all kinds of symptoms, such as diarrhea, gas, bloating, joint pain, fatigue, mental fog or rash, without significant intestinal damage...yet.

Calling it Celiac Syndrome also provides the opportunity to include folks who have gluten intolerance, but do not have the biopsy-provable gut damage...yet.  By diagnosing the problem early, maybe there is a chance to prevent the various rheumatic problems, multiple allergies and misery Celiacs tend to develop, never mind the increased risk of gut lymphomas and colon cancers.

There are many more people with gluten intolerance than anybody ever thought.  It is a great pretender, taking an average of 11 years to diagnose.  The National Institutes of Health estimate more than two million people suffer from gluten intolerance without knowing the cause of their problems. 

Because the body's own immune system causes the damage, Celiac Syndrome is considered an autoimmune disorder.  However, it is also classified as a malabsorption disorder because nutrients are not absorbed.  Other names for this condition include celiac sprue, nontropical sprue, and gluten-sensitive enteropathy.

How Common is Celiac Syndrome?

Until recently, Celiac Syndrome was thought to be quite rare in the United States.  Tweny years ago doctors in medical school were told that maybe 1 in 6000 people having it.  However, studies have shown that Celiac Syndrome is much more common.  We still donít really know exactly how common it is.  A study in Italy showed that about 1 in 100 children have it.  Italy tried doing manditory screening of all 6-year-olds for a while.  Italian officials eventually gave up the testing because they could not convince parent that their "perfect" child needs to be restricted from eating bread and pasta the rest of their lives.  In England, the incidence was about the same --1 in 100.  Recent studies have shown that it may be more common in Africa, South America, and Asia than previously believed.

Recent findings estimate about two million people in the United States have Celiac Syndrome, or about 1 in 133 people.  This is from blood bank studies on people healthy enough to donate blood.  Most folks donít know they have it either.  Among people who have a first-degree relative diagnosed with Celiac Syndrome, maybe 1 in 22 people may have the problem.  People with various autoimmune disorders, chronic fatigue syndromes or any kind of chronic gut problems, everything from rheumatoid arthritis to thyroid problems irritable bowel syndrome are even more likely to have it, maybe one in 20!  It's MUCH more common than we ever thought!

Celiac Syndrome could be under diagnosed in the United States for a number of reasons including:

  • Celiac symptoms can be attributed to other problems.
  • Many doctors are not knowledgeable about Celiac.  In fact, many doctors have a difficult time understanding that so many symptoms could be caused by a food.
  • Only a small number of U.S. laboratories are experienced and skilled in testing for Celiac.

More research is needed to learn the true prevalence of Celiac Syndrome.

What are the Symptoms of Celiac Syndrome?

Celiac Syndrome affects people differently.  Recognizing Celiac Syndrome can be difficult because some of its symptoms are similar to those of other diseases.  In fact, sometimes Celiac Syndrome is confused with irritable bowel syndrome, iron-deficiency anemia caused by menstrual blood loss, Crohn's disease, diverticulitis, intestinal infections and chronic fatigue syndrome.  As a result, Celiac Syndrome is commonly under-diagnosed or misdiagnosed.

Symptoms may occur in the digestive system or in other parts of the body.  For example, one person might have diarrhea and abdominal pain, while another person may be irritable or depressed.  In fact, irritability is one of the most common symptoms in children.  The list of symptoms is amazingly long.  In a family practice, it is a common cause of the "I-don't-feel-well's."

Symptoms of Celiac Syndrome May Include One or More of the Following:

  • gas
  • recurring abdominal bloating and pain (sometimes mis-labeled irritable bowel syndrome)
  • chronic diarrhea or chronic constipation (or both)
  • pale, foul-smelling or fatty stool
  • weight loss (this is the classic symptom, sometimes to the point of death from malnutrition)
  • weight gain (10 to 20% of the very obese need to stop gluten to lose weight)
  • persistent nausea and vomiting
  • unexplained anemia (due to iron deficiency from bleeding or due to other vitamin deficiencies such as B12, B6 or folic acid)
  • fatigue or weakness
  • swelling and fluid retention
  • bone or joint pain
  • arthritis
  • thinning of the bones to the point of osteoporosis
  • irritability or depression
  • poor school performance
  • tingling or numbness in the legs (peripheral neuropathy)
  • muscle cramps
  • unexplained seizures
  • night blindness
  • missed menstrual periods (often because of excessive weight loss)
  • infertility, both male and female
  • recurrent miscarriage or recurrent preterm labor
  • delayed growth or short stature
  • failure to thrive in infants
  • sores inside the mouth, called aphthous ulcers or canker sores
  • tooth discoloration or loss of enamel (teeth "crumble")
  • itchy skin rash called dermatitis herpetiformis
  • follicular keratosis (rough skin with hardening of the hair follicles)
  • cracked lips at the corners of the mouth (angular chelosis)
  • shiny tongue (glossitis)
  • easy bruising
  • low or high thyroid function
  • diabetes
  • low or high parathyroid function
  • pancreatic insufficiency

A person with Celiac Syndrome may have no symptoms at all.  People without symptoms are still at risk for the complications including malnutrition.  The longer a person goes undiagnosed and untreated, the greater the chance of developing malnutrition and other complications.  Anemia, delayed growth and weight loss are signs of malnutrition.  The body is just not getting enough nutrients.  Malnutrition is a serious problem for children because they need adequate nutrition to develop properly.

Why are Symptoms of Celiac Syndrome so Varied?

Celiac syndrome is a multi-system, multi-organ disorder.  Researchers are studying the reasons it affects people differently.  Some people develop symptoms as children, others as adults.  Some people may have no symptoms or may be unaware of symptoms.  The undamaged part of their small intestine may not be able to absorb enough nutrients to prevent symptoms. 

The length of time a person is breastfed, the age a person started eating gluten-containing foods and the amount of gluten containing foods one eats are three factors thought to play a role in when and how celiac appears.  Some studies have shown, for example, that the longer a person was breastfed, the later the symptoms of Celiac Syndrome appear and the more uncommon the symptoms.

How is Celiac Syndrome Diagnosed?

Recognizing Celiac Syndrome can be difficult because some of its symptoms are similar to those of other diseases.  In fact, sometimes Celiac Syndrome is confused with irritable bowel syndrome, iron-deficiency anemia caused by menstrual blood loss, Crohn's disease, diverticulitis, intestinal infections and chronic fatigue syndrome.  As a result, Celiac Syndrome is commonly under-diagnosed or misdiagnosed.

Recently, researchers discovered people with Celiac Syndrome have higher than normal levels of certain auto-antibodies (body attacking itself)  in their blood.  Antibodies are protective proteins produced by the immune system in response to substances that the body perceives to be threatening.  Auto-antibodies are proteins that react against the body's own molecules or tissues.  

Blood Tests for Celiac Disease or Celiac Syndrome Include a "Celiac Panel":

  • AEA    Immunoglobulin A anti-endomysium
  • AGA   IgA Anti-Gliadin
  • AGG   IgG Anti-Gliadin
  • tTGA  IgA Anti-Tissue Transglutaminases

Before being tested, one should continue to eat a regular diet that includes foods with gluten, such as breads and pastas.  If a person stops eating foods with gluten before being tested, the results may be negative for Celiac Syndrome even if Celiac Syndrome is actually present.  About 2% of people with an IgA deficiency have false-negative results.  

The lab that does the testing does matter.  Some labs have "normal" ranges set so high that practically no one tests positive even with biopsy-provable Celiac Disease.  Remember, antibodies present means there already is tissue damage.  People with levels just above baseline but technically negative may still respond dramatically to a gluten-free diet. 

Unfortunately, these tests look for "damage" to the gut and tissue; so huge numbers of people in the bottom of the gluten-sensitive iceberg may be missed.

The same goes for a small bowel biopsy, which has been the "gold standard" for diagnosing Celiac Disease.  During the biopsy, the doctor removes a tiny piece of tissue from the small intestine to check for damage to the villi.  To obtain the tissue sample, the doctor eases a long, thin tube called an endoscope through the mouth and stomach into the small intestine.  Using instruments passed through the endoscope, the doctor then takes the sample.  The damage to the small intestine is usually not uniform throughout the small intestine.  Itís easy to miss a ďhot spotĒ of intestinal damage with a very small biopsy.  Also, if the celiac attacks other tissues such as brain or skin and not the gut, then the test will be falsly negative.

Imagine going to a cardiologist with chest pain.  What would you think about him or her if the doctor took a biopsy of the heart and said, "No heart attack.  You're fine.  There's no need for treatment."  Do we want to find people who are at high risk for Celiac Syndrome and catch them early?  Or do we want to wait until there is proven extensive damage to recommend doing something about it?  Celiacs deserve better!  Treatment when there is proven organ damage may be too late.  Besides, Celiacs FEEL better gluten-free. 

There is an abundance of stories about people who begin a gluten-free diet, find that they feel better then decide they want a firm diagnosis of celiac disease. They are facing several problems. First, they may be gluten sensitive without the intestinal lesion of celiac disease. This is very likely since about twelve percent of the population is gluten sensitive, but only about one percent of the general population has celiac disease. Another problem faced by gluten-free individuals who want a diagnosis is that it can take more than five years after returning to a regular gluten-containing diet before the characteristic damage of celiac disease can be seen on a biopsy. Simply put, after beginning a gluten-free diet, only a positive biopsy is meaningful. A negative biopsy does not rule out celiac disease. If staying off gluten makes you feel better, why not stay off gluten?

There are variety of opinions regarding how much gluten and for how long should result in a definitive positive biopsy. The reality is that no such recommendation is consistent with the medical literature. Some people with celiac disease will experience a return of intestinal damage within a few weeks of consuming small amounts of gluten. Some people with celiac disease or dermatitis herpetiformis will require much larger doses of gluten, over much longer periods, to induce celiac lesions on the intestinal wall. Blood tests can compound this problem. Celiacs who are slow to relapse are also the ones who develop milder intestinal lesions.  These are the very patients for whom blood tests are very unreliable. Celiac disease cannot be ruled out on brief challenges of gluten, period.

We may forget that gluten consumption by a person with celiac disease can lead to deadly cancers and a variety of debilitating autoimmune diseases. Any recommendation to try gluten again should be accompanied by a clear warning that celiac damage may be there and may be missed in testing. The absence of such warnings is inexcusable. 
There is a new process of testing for Celiac with stool testing.  The lab web site is   Dr. Kenneth Fine, who has been studying Celiac for 25 years, says stool tests are more accurate and seem to pick up the Celiac condition much earlier than end-stage with gut damage.  Stool tests seem to be three times more likely to be positive than blood tests.  Anyone can get testing through this lab without a doctor's order, but most insurances are still not covering their testing.  They will be publishing a big study about their testing soon.

Gluten intolerance can attack any part of the body.  That's why gluten intolerance or celiac syndrome can present in so many different ways and with so many different symptoms.  When it attacks the skin, it causes dermatitis herpetiformis.  The problem is that the skin can look like anything, which makes diagnosis even more of a challenge.  The blood tests for celiac are positive only if there is significant damage to the gut.  If there is no gut damage, then the blood tests for celiac are negative.  Diagnosis becomes nearly impossible unless you are suspicious of it in the first place. You can maybe get a final diagnosis by skin biopsy.

If you are sick and tired of feeling sick and tired, and noone can tell you what is wrong with you, would it really hurt to try a gluten-free diet for a month or two to see what happens?

The author is Dr. Rima Kittley, a family physician in Lufkin, Texas