Autoimmune Disease

Celiac Disease: Is It Something I Ate?

Hippocrates, the father of modern medicine, said that all disease begins in the gut. For most people, eating a bowl of pasta is part a normal life, but for someone with celiac (SEE-lee-ak) disease this can have some serious consequences. Although the prevalence of celiac disease is increasing, awareness about the disease continues to remain relatively low, and people with celiac disease suffer silently with symptoms such as abdominal cramps and unexplained diarrhea. Those symptoms, however, are only the tip of the iceberg—below the iceberg there are symptoms that can be “silent” or not obvious and symptoms that can be present, but not recognized as tied to celiac disease.

Celiac disease is generally considered an autoimmune disorder—a disorder of developing antibodies to one’s own tissues. The name celiac derives from the Greek word for “hollow,” as in bowels. Celiac disease is an inflammatory condition of the small intestine set off by eating food that contains a dietary protein called gluten, a protein present in many grains that we commonly eat. The ones we are most familiar with are wheat, barley and rye.

Celiac disease mainly affects the first part of the small intestine, and the disease process is activated when the inside of the intestine comes into contact with eaten gluten. The antibodies formed by gluten attack the small intestine, and this attack process then affects absorption of foods -- those containing gluten, as well as food mixed with gluten foods -- causing rapid passage of food through the gut, frequent bowel movements or diarrhea. In the normal intestinal lining, tiny finger-like projections called villi [vil´i] that enable the small intestine to absorb nutrients from food are present in the intestine and help us absorb nutrients from the food we eat. In celiac disease, they are gone!

For many years, celiac disease was considered a rare childhood disease. With more frequent use of blood tests that include antibody screening, which is reviewed below, and increasing use of biopsy of the inside of the intestine (to look for the presence or absence of villi), there is a clear trend showing celiac disease is on the rise. Celiac can be found in people of any age and any ethnic group and is estimated to be found now between 0.6 and one percent of the world’s population. In the U.S., it is estimated that up to three million people have celiac disease, but only around 40,000 have been diagnosed.

In typical celiac disease, the intestinal symptoms seem to follow the amount of injury and inflammation to the small intestine. The typical celiac symptoms can include either a chronic or recurrent diarrhea, abdominal distention, flatulence, weight loss, cramps and vomiting. But this so-called typical picture is really not so typical, as these symptoms are found in only one out of seven people with celiac disease.

The symptoms and findings that are not gut symptoms, yet can be frequently seen, are anemia (low red blood cells) due to lack of iron absorption; a very specific itchy skin rash called dermatitis herpetiformis [her-pe-te-for-mes]; osteoporosis (thin bones); inability to have children (infertility); abnormal liver function tests; anxiety; and even depression. Unfortunately, cancer -- specifically lymphoma or adenocarcinoma of the small intestine can be a result of untreated celiac disease.

Your genes play an important role in the potential risk for development of this disease. Celiac disease is present in approximately 10 percent of first-degree relatives (parents, brothers, sisters) of anyone with a known diagnosis of celiac disorder. Also, if you already have an autoimmune disorder such as diabetes mellitus type 1, you should be tested for celiac, as multiple autoimmune conditions very often can be found to be present in the same person.

There are many steps that can go into the evaluation of celiac disease, but blood testing is essential for initial celiac disease screening. These blood tests measure antibodies, usually IgA or IgG, that are made by immune cells to two main proteins. A protein enzyme called tissue transglutaminase [tranz-glü-tam- -naz] (TTG) is found in many cells of our body and is released from the damaged intestine during active celiac disease. IgA antitissue transglutaminase antibody is recommended for initial testing, if you make IgA. Alternatively, the presence of IgG anti-tissue transglutaminase antibody can be tested in people with IgA deficiency. But biopsy of the small intestine is highly recommended to confirm the diagnosis in most patients with suspected celiac disease from initial screening. When antibody results and biopsy do not give a clear answer as to whether celiac is present, or when a person is already on a gluten-free diet, which can make antibody levels fall to normal, gene testing can be ordered to help make the diagnosis. This testing is very specific and often requires special consideration to be covered by insurance, so this is something to discuss with your doctor.

Celiac disease has no cure, but given the strong evidence linking gluten to the disease, you can control celiac by eliminating gluten proteins from your diet. When gluten is removed from the diet, the small intestine starts to heal and symptoms begin to go away rapidly.

It can be challenging to follow a strict gluten-free diet for life. Fortunately, there are many glutenfree products on the market. Since 2007, the U.S. Food and Drug Administration (FDA) has been working on rules to govern “gluten-free” labeling and to define a safe gluten threshold. In the future, we may see other treatments such as glutendigesting enzymes or even genetic modification of wheat that could be tolerated by your gut, even if you have celiac disease.

In addition to a gluten-free diet, an annual visit to your doctor to monitor celiac disease antibody levels and conditions associated with celiac disease such as osteoporosis, anemia and autoimmune thyroid disease is recommended.

Dr. Jean Jacques Nya-Ngatchou is a third-year Fellow in Endocrinology, Diabetes and Metabolism at the University of Washington. He received his training in internal medicine at Overlook Hospital in Summit, NJ where he was awarded Outstanding Achievement in Clinical Science and Humanism in the Practice of Medicine. Dr. Nya-Ngatchou has published in peer-reviewed medical journals during his fellowship and has presented abstracts and posters on male reproduction at the Endocrine Society, where he received the Endocrine Society Minority Mentoring Poster Award in June 2012. His research interests include male contraception and finding novel methods to improve male fertility.

Everyday Hero: Teen Conquers Diabetes With Grace and Diligence

By Mary Green

Seldom does a life-changing moment happen so early in life. For Luke Castellano, the tide turned at the very tender age of 12 months. However, in his estimation today, a diagnosis of type 1 diabetes was (and is) simply part and parcel of his life’s fabric.

His own words speak volumes about his perspective. In a 2012 class autobiography assignment, he wrote:

“I live every day like it’s my last, because I’ve lived and survived some life-threatening challenges. Diabetes has made me a very strong person, and it also helps me to stay very healthy. I am always trying to stay on a good diet to maintain good blood sugars. I prick my fingers five to six times daily to calculate my blood sugar and inject myself with insulin to cover my food intake. It is hard, but it is a challenge that I overcome every day.”

According to mom Rebecca, Luke’s unexpected diagnosis came after several weeks of particularly messy diapers, vomiting and lots of pleading for more juice—signs that caused the trained nutritionist and new mom (of fraternal twins, no less) concern that was subdued temporarily by a conversation with the family pediatrician. “He diagnosed Luke with a bad stomach virus and directed me to give him ginger ale and juice,” she recalls. Matters came to a head only a few days later.

Seeing no improvement in her first-born, Rebecca rushed Luke to the area emergency room, where doctors discovered the toddler had lost 25 percent of his body weight in two days and was down to 15 pounds. “The doctor expressed concern about being able to draw blood because my son was so dehydrated, and it took almost an hour because they couldn’t find a vein,” she recalls. “Afterward, the doctor came in and she said, ‘Mrs. Castellano, your son’s blood sugar is 1,200. He needs to be admitted immediately. I can’t guarantee the outcome of this, because your son is very sick.’”

“They told us that if we hadn’t gotten to the hospital that day, he most likely would have slipped into a coma,” she says. “Thank goodness they were able to get it under control.”

Luke stayed in the hospital eight days, but “we experienced a miracle,” says Rebecca and the family returned home to the new normal. “Because I had the nutrition background, I got the carbs down pat and learned quickly how to administer his shots ,”she continues. “At times it’s been a roller coaster ride with 10 finger sticks a day and highs and lows, particularly when he was younger and couldn’t vocalize how he was feeling, but throughout it all, in 16 years of living, Luke has never complained.”

A natural-born athlete, Luke recovered quickly and began to thrive with treatment, taking up football, basketball, baseball and lacrosse – at the early age of 5.

As he matured, options were weighed to enhance Luke’s active lifestyle and the family made the decision to place him on the CoZMonitor®, an “all-inone” blood glucose monitor and insulin pump. “The monitor worked beautifully for his circumstances for a time, but the only problem is that his body fat was so low, the only place they could put it was his stomach, so we would put it in his thigh or back, where it was too uncomfortable,” Rebecca says.

“With his active lifestyle, over time, we began experiencing minor ‘technical issues’,” says Rebecca. After an incident during a national flag football championship game, when then-10-year-old Luke was running with the ball and a member of the opposing team grabbed the flags from around his waist – along with the wiring from the pump – Luke reverted back to insulin shots, which he continues to this day, accommodating his diabetes condition with frequent blood checks to ensure his well-being.

Luke hit another bump in his life’s journey at the age of 9 when his growth stalled. “We saw him struggling and the blood sugars would go up and down like a rollercoaster,” Rebecca says. “We always knew he and hi s brother Nick were a little smaller because they were twins but once his four year younger brother Jake began to catch up to him, we knew something was wrong.” Also, Luke's blood sugar was fluctuating wildly, seemingly for no reason.

“He no longer was following the growing curve, and the doctors suggested it might be from his diabetes and problems with malabsorption, plus it was probably genetics as well since both my husband and I are on the short side,” she added. (Rebecca is 5’ 2’ and her husband 5’ 10”).

After undergoing growth hormone testing for several years with normal results, Luke was tested for celiac disease (see related story on page 14), a condition in which hypersensitivity of the small intestine to gluten leads to chronic failure to digest food. Although celiac sufferers experience abdominal pain, diarrhea and weight loss, Luke had none of those typical symptoms.

To Rebecca’s surprise the tests can back positive. “The doctor said, ‘Your son has celiac and this is why he was having all these problems.’”

(From left to right) The Castellano family: dad Santo, sister Rachel, brother Nick (Luke's twin), Luke, sister Diana, brother Jake and mom Rebecca.

“Short-stature celiac is what he was diagnosed with – it’s very unusual, the damage was all internal and it was asymptomatic,” she says.

Now dealing with a son with two chronic, autoimmune conditions and a daughter with celiac – Luke’s younger sister Rachel was diagnosed with the condition shortly after Luke – Rebecca sprang into action, hitting the books and educating herself about celiac, creating gluten-free recipes for tasty foods that also would meet the nutritional needs of Luke and Rachel. That effort evolved into a cottage industry with the 2011 launch of Rachel Lu Foods, Rebecca’s gluten-free commercial manufacturing company.

Meanwhile, Luke rebounded again, growing six inches and gaining 20 pounds within one year of his celiac diagnosis. “With Luke, again there was no question of why,” says Rachel. “He just did what he does best and that was to commit to his health, he ate strictly gluten free and within the year his blood sugar improved dramatically.”

“Sure it’s been a challenge, but I just work harder and it takes care of itself,” Luke says.

Now a junior at St. Anthony’s High School on Long Island, he seems like a typical teenager: he is obsessed with video games (“Call of Duty” and “Madden” are favorites), and loves sweets, particularly chocolate chip cookies…in moderation, with artificial sweetener and gluten-free, of course. In other ways Luke’s somewhat atypical.

He’s on the school’s varsity lacrosse travel team and dreams of becoming a Division 1 college player. He is member of the National Honor Society and carries a 95 grade point average, with the hopes of perhaps one day becoming a doctor or dentist.

And he continues to forge ahead with a positive attitude and can-do spirit.

“I am not the biggest kid on the field, but I have the biggest heart on the field, and I won't let anyone tell me I can't do this or I can't do that,” he says.

“I truly think there is an angel watching over me,” he continues. “Because of my diabetes, I have already in such a short time learned a lot. You should work hard at whatever you’re doing whether it is school work or sports. You have an amazing opportunity to be on this earth; as long as you do something helpful in this world, you are needed. You only live once, so make the best of what you got. I’m young and I am going to try the best I can to make a positive impact on the world. I have diabetes, but diabetes doesn’t have me!”

Why is my Doctor Checking for Antibodies

I Have Diabetes, not an Infection!

By Armand A. Krikorian, MD


Insulin is the main hormone that controls your blood sugar (glucose). Cells in the pancreas called islet [EYE-let] cells secrete insulin.

Antibodies are proteins made by your immune system to defend against foreign substances. Sometimes antibodies can be directed against your own body organs. This results in diseases that are called “autoimmune.” Type 1 diabetes is one such disease where antibodies are made against the body’s own islet cells. These antibodies can be detected by blood tests. Several antibodies against the pancreas are islet-cell antibodies (ICA), anti-glutamic [anti-gloo-TAM-ic] acid decarboxylase [dee-kahr-BOK-suh-leyz] antibodies (anti-GAD) and Insulin autoantibodies (IAA).

Type 1 diabetes results from the destruction of insulin producing pancreatic islet cells. The pancreatic antibodies, however, do not cause type 1 diabetes. They simply happen to be present in people at risk of developing type 1 diabetes. They can be detected years before diabetes begins. Doctors can use the antibody levels in the blood to predict who will develop type 1 diabetes. This is still mostly done in research studies, especially in research aimed at preventing the onset of type 1 diabetes.

Not all people with type 1 diabetes have these antibodies, because these antibodies can disappear after years of diabetes being present. So not having these antibodies doesn’t mean you don’t have type 1 diabetes. Presence of the antibodies can help doctors distinguish between type 2 diabetes or type 1 diabetes. This is particularly true in people who might seem to have type 2 diabetes (develop diabetes later in life, have a family history of diabetes, have had diabetes during pregnancy) but do not have the typical body appearance at presentation (are lean), or do not respond to oral pills used for the treatment of diabetes when the diagnosis is not clear. Also, more and more children with newly discovered high blood sugars are being tested for antibodies, because many youth have diabetes that requires only a pill to treat or diet! Young children often are thought to have type 1 diabetes and are started on insulin right away. Clearly, antibody testing can make a huge difference to quality of life for the child and parent.

“Can I be genetically more at risk of having pancreas antibodies?”

Type 1 diabetes is hereditary in only 20% of people. This means that for 80% of people diagnosed with type 1 diabetes, it likely wasn’t hereditary. There are certain gene patterns that have been associated with a higher versus lower risk of developing type 1 diabetes. Researchers are trying to find these gene patterns, because they can be useful when antibody levels are borderline and not strongly positive. We still do not know what triggers antibodies to form in pancreatic tissue. It is unclear if some specific genes cause antibodies to be produced.

“Can I do something to change my pancreatic antibody levels?”

There is no medicine on the market that can make the pancreatic antibodies disappear. There are many promising trials of drugs that perhaps in the future might be used to prevent type 1 diabetes, but these are still in very early stages of testing. Diet and exercise are very important in the treatment of diabetes, but they have no impact on the antibody levels.

“Does a higher level of antibodies mean more severe disease?”

No, the antibodies are considered either positive or negative. Higher or lower levels do not mean more severe diabetes. Also, higher levels do not mean that the diabetes will be more difficult to treat. There is usually no need to follow the levels of antibodies over time as they do not change the way diabetes is managed.

“Are there other diseases that are associated with pancreatic antibodies?”

There is a less common form of diabetes called latent autoimmune diabetes in adults (LADA). With LADA, people affected can also have positive pancreatic antibodies. LADA, also called “slow-onset type 1 diabetes” is a form of type 1 diabetes that typically occurs in people over 30 years old. People with LADA will likely need insulin, and there is data that suggests that these people should be started on very low doses of insulin early to protect the pancreas’ own insulin production.

“Are pancreatic antibodies found in diseases other than diabetes?”

Pancreatic antibodies are associated only with diabetes. However, there is evidence that people with one autoimmune disease are at risk for getting another one. As such, people with type 1 diabetes may also develop other autoimmune diseases, such as autoimmune thyroid disease, celiac [SEE-lee-ack] disease (antibodies to wheat product gluten in the diet), or rheumatoid arthritis. Still, many people with type 1 diabetes do not develop any other autoimmune disease, even if they have positive antibodies to other organs.

“I have taken non-human insulin in the past. What are anti-insulin-binding antibodies?”

Before 1982, insulin in the market was mostly from animals (cows or pigs). Now, all insulin on the market is of human origin. Insulins made from cows or pigs are considered foreign substances by the human body. Many people who received them developed antibodies to insulin called “anti-insulin binding antibodies.” These antibodies can be measured and can interfere with the treatment of diabetes. The newer insulins are nearly identical to the human insulin and rarely cause antibodies to form.

There is much ongoing research on pancreatic antibodies, and many questions need to be answered. As more is learned and understood about what happens in the body to develop type 1 diabetes, there is promise of treatments to actually prevent type 1 diabetes in high-risk people, and to hopefully cure type 1 diabetes in newly diagnosed people. In the meantime, continue to focus on your diabetes through keeping your sugars as near normal as safely possible, keeping your blood pressure and cholesterol under control, and keeping as healthy as possible to decrease the risk of diabetes complications.

Dr. Armand Krikorian is Assistant Professor of Endocrinology and Associate Program Director of the Internal Medicine Residency Program at Case Medical Center and the Louis Stokes VA Medical Center. He has published in multiple journals including the Lancet and is involved in clinical research, education and direct patient care.

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