The Robbins: Chris, Betsy and daughter Izzy. ON a crisp October morning in 2014, Betsy Robbins waited impatiently
in the hospital recovery room with her still-groggy husband, who 30
minutes earlier had undergone an intestinal biopsy. The gastroenterologist entered the room.
“Your husband either has intestinal cancer or celiac disease,” he said
bluntly. “The odds are that it’s celiac. We have to wait for the lab
results, though.”
Celiac disease? Betsy was completely thrown for a loop by the news. Over
13 years of marriage, the homemaker from Waupaca, Wisconsin
understood better than most the maxim, “in sickness and in health.”
She had been with her husband Chris as he battled conditions from alopecia, or hair loss, to diverticulitis and hypothyroidism. Not once had any of his doctors mentioned celiac disease as a possible diagnosis. Nor had any of them suggested he have a simple blood test to determine if he had the antibodies that the autoimmune condition uses as its calling card.
Chris, a 40-year-old foundry owner, had only agreed to have the endoscopy because his strong-willed wife insisted. Lately, he had been suffering from acid reflux and she worried that he would develop esophageal cancer, which runs in his family.
But celiac disease was something neither Chris nor Betsy knew a thing about. When they got home, she settled him into bed and sat at her computer for a stark introduction to the basics of this complicated condition.
Toll of Celiac’s Non-Classical Symptoms
Betsy learned that, with this disease, the body mounts an immune response to gluten, the protein present in wheat, barley and rye products, and damages hair-like projections in the small intestine called villi, which play a vital role in the absorption of nutrients. The only current treatment is a gluten-free diet and symptoms are myriad, can seem unrelated, and may include thyroid disease.
When they met with the gastroenterologist, he confirmed not only the celiac diagnosis, but how it held the answer to the mystery of Chris’s many ailments. Celiac had been taking a long-term toll on Chris’s body.
What the couple didn’t know at the time was that Chris is among a fast-growing group of patients who don’t turn up at the doctor’s office with so-called classic symptoms of celiac disease, like diarrhea and nutrient deficiency. There is a big evolution – or more like revolution – underway in our understanding of the signs of celiac disease.
A 15-year-long study from Italy published in the November 2014 edition of BMC Gastroenterology officially threw the book of textbook cases out the window. It provided strong data on non-classical cases, finding that the majority of patients – 66 percent – had what have been considered “atypical” symptoms.
These included anemia, the skin rash called dermatitis herpetiformis, osteoporosis and Hashimoto’s disease, in which the thyroid, which produces a hormone to regulate energy and metabolism, becomes sluggish, just like Chris’s. In fact, over 26 percent had the thyroid disorder – just slightly fewer than the 27 percent who presented with diarrhea.
Celiac’s Chameleon Qualities
Gastroenterology experts had long suspected through observation in their practices that non-classical symptoms beyond the gut were becoming increasingly common. Dr. Umberto Volta, lead author of the Italian study, was inspired to conduct this study because no one had actually confirmed the phenomenon. The study of 770 patients diagnosed with celiac at St. Orsola-Malpighi hospital in Bologna, offered up the proof.
“Over time, the most striking change in the clinical presentation of celiac disease has been the decrease of diarrhea as the leading symptom and the progressive increase of other non-classical symptoms,” Volta, the director of the Celiac Disease Center at the University of Bologna, told Allergic Living.
Dr. Umberto Volta The patients who were tracked between January 1998 and December 2012 were divided into three groups: those who had well-known symptoms such as diarrhea and bloating, those who had non-classical symptoms such as osteoporosis and anemia, and those who displayed no symptoms at all. While the vast majority of patients in the study (79 percent) had symptoms when they were diagnosed, the more recent the diagnosis, the more likely the symptoms would be non-classical. There were also 21 percent who did not have perceptible symptoms.
Just under half the patients were diagnosed in the first 10 years of the study while the rest were diagnosed in the final five years – a statistic that Volta says is testament to better diagnostics and an improving understanding of the disease.
Yet understanding takes effort with this chameleon of a disease. The very terms “classic” or “typical” are difficult to use when it comes to celiac symptoms, according to Mayo Clinic expert Dr. Joseph Murray. The symptoms are simply that diverse. The Minnesota-based gastroenterologist told Allergic Living that the only sure things are that the disease is genetic and caused by the immune system’s response to the presence of gluten.
“And despite it running in families, there is no good way to predict who is going to get which symptoms,” he says. “I have patients who are identical twins, for goodness sakes. One was diagnosed early in life with gut problems while the other developed dermatitis herpetiformis (the unsightly skin rash) much later on. “It’s like, ‘OK, how did that happen?’”
Experts Say to Err on Side of Testing
Volta, who has published more than 450 scientific papers, says his study sends a message to physicians – it’s a stark reminder that celiac disease can be tricky and take many forms. When there is doubt, he would order a blood test. This is important as the only celiac treatment right now is a gluten-free diet, which both improves life for patients with symptoms and also protects those who may not yet see the signs, but who may have the beginnings of intestinal damage.
As a rule, the expert recommends that doctors screen patients for celiac when they have iron-deficiency anemia that does not resolve with supplements or infusions, osteoporosis that cannot be explained, abnormal liver tests and several autoimmune disorders, including Type 1 diabetes and hyper or hypothyroid disease. He also advises that tests be done for patients with chromosomal conditions such as Down’s and Turner syndromes because they are closely linked to celiac disease.
That’s not all. Reproductive abnormalities – a late start to menstruation, an early menopause or problems in pregnancy – merit suspicion and a blood test, too. “Women with celiac disease who strictly adhere to the diet usually have problem-free pregnancies,” he says.
While some studies connect neurological symptoms like brain fog to untreated celiac disease, Volta remains less convinced of this symptom. “It may be a sign of celiac disease onset in a very low number of cases,” he says, “but it is much more frequently detected in patients with non-celiac gluten sensitivity.”
Murray of the Mayo Clinic notes that sometimes celiac disease progresses quickly and sometimes symptoms wax and wane, appearing in childhood, disappearing and then coming back with a vengeance at some point in adulthood. “It can be a little like the Loch Ness monster, making appearances every 10 years or so.”
“It is part of the complexity of a disease like this,” says Murray. “It takes the symptoms getting bad enough to complain about and it takes the health-care system to respond to those complaints properly.” That’s why he urges doctors to think broadly, and to ask patients if there is a history of celiac disease in their families and order a blood test if any of the “red flags” from Volta’s study pop up. He appreciates it is a challenge to detect this one disease among a “thicket of possible ailments.”
“Irritable bowel syndrome affects between 6 to 10 per cent of population and reflux affects between 6 to 10 per cent of men,” he notes. “At 1 per cent of the population, celiac disease is outnumbered. It’s not in the first tier of diseases being seen. It’s not heart disease. It’s not cancer. It’s like the ‘Where’s Waldo’ of diseases. You have to find it.”
Anemia Finally Led to Diagnosis
Izzy Robbins' active life goes on, despite the diagnosis. Consider the case of Claire Baker, who was in university in Oklahoma when she was diagnosed with anemia 30 years ago. She first became aware of it when, she was turned down as a donor at a blood drive. “It was confusing, to say the least,” said Baker.
Years of visiting doctors followed, and endless prescriptions for iron pills that she’d stop taking after a while because they made her feel lousy and didn’t seem to work. She moved to the Philadelphia area in 1988, met her partner and had a commitment ceremony. They had two sons, now aged 12 and 14. Even though Baker often felt tired and hazy – life happened.
Then, in 2010, her new primary care physician, concerned about the fact that iron supplements were not affecting the anemia, referred her to a hematologist who seemed more interested in a recent bout she’d had with diarrhea.
“I want to talk with you about Crohn’s or celiac disease,” she told her. The sharp-eyed specialist said they’d start with a blood test, and if it was positive, she would then be sent for an endoscopy. If it was positive for celiac, she’d be in for a diet change. And celiac was indeed the diagnosis.
“I was flabbergasted,” said Baker, who today is an energetic 52-year-old and Beyond Celiac’s communications director. “For 26 years, I was having adventures in diagnosis, although I didn’t know I was on an adventure.” In hindsight, it’s easy to see the signs that doctors weren’t connecting to the big picture. But she doesn’t dwell on that. “It’s better to look forward and – I know this is a cliché – but live each day to the fullest,” she says.
Betsy Robbins believes that, too. What’s the use in looking back and being angry at doctors who maybe should have known better? Instead, she, Chris and their daughter, Isabel, or Izzy for short, have learned how to read labels carefully and made sure that everyone in their extended family knows about celiac disease and what is at stake.
Of proud Italian heritage, Chris no longer eats the wheat pasta he so loved, which has led to a bit of weight loss. And after years of his endocrinologist prescribing increasing strengths of Synthroid, the synthetic replacement for the hormone his thyroid is not producing properly, the dosages have been steadily declining. It’s a sign that his intestine has healed enough to better absorb the medication.
But the biggest change is for Izzy, a self-possessed, personable 9-year-old who takes gymnastics and rides horses. As soon as Chris’s results came back, the Robbins knew their daughter had to be tested, too –and fast. “She seems so healthy but the gastroenterologist told us that, sometimes, people have no symptoms,” Betsy says. “The mere thought that she could develop autoimmune conditions like her dad later in life gives us no choice. We have to be proactive.”
After a positive blood test for antibodies linked to celiac disease, Izzy continued to eat small helpings of gluten-rich food until the day of her endoscopy. Going in, she was nervous. “I would feel sad for sure to end up having celiac because I wouldn’t be able to eat some of my favorite foods and all my friends would get to!” she wrote in a note to Allergic Living.
A week later, the biopsy results came back positive. Her mom broke the news and together, they cleaned the house of all products that contained gluten and had a long talk. Betsy’s overriding message to her daughter was that life goes on; having celiac disease doesn’t mean that Izzy has to give up on her dreams or live in a bubble. Rather, she has to become highly aware of what she eats for the sake of her health, and have the willpower to turn down a food with gluten, even if her friends are having it.
“You know, if it was cancer, I’d be curled up in a ball in the corner,” Betsy says. “But we can handle celiac disease. I know we can.”
Sidebar: Non-Classic Signs of Celiac Disease
More than one-third of the patients in Dr. Umberto Volta’s study had common gastrointestinal symptoms of celiac disease such as diarrhea or constipation and bloating. But a majority showed non-classic symptoms that are less predictable but equally important signs of celiac. Volta says the following should trigger doctors to screen patients for celiac disease.
Dermatitis Herpetiformis
An autoimmune condition resulting in a blistering and itchy rash. In the Italian study, it was seen in only 4 percent of patients.
Gastro-esophageal reflux disease
More than one in 10 patients in the study presented with the condition in which the lower esophageal sphincter is weak or relaxed, allowing the stomach’s contents to come back up into the esophagus.
Graves’ disease
An immunoglobulin (IgA) disorder in which the thyroid, the gland that helps to regulate the body’s use of energy and production of proteins, produces too many hormones. Celiac patients are four times more likely than others to develop autoimmune thyroid conditions such as Graves’ and Hashimoto’s disease.
Hashimoto’s disease
This is, in effect, the reverse of Graves’ disease; the thyroid produces too few hormones or none at all. It was the most frequent autoimmune disorder associated with celiac disease in this Italian study.
Iron-deficiency anemia
One of the more common symptoms of celiac disease characterized by a low red blood cell count is caused by insufficient dietary intake and absorption of iron and/or loss of iron from internal bleeding in the intestinal tract or elsewhere in the body.
Lupus
This autoimmune disorder usually affects many parts of the body. One of the rarer indications of celiac disease, lupus’ most distinctive feature is a butterfly-shaped facial rash. It can be difficult to diagnose because many of its symptoms could be due to other conditions.
Osteoporosis
The disease, in which bones lose mass and become increasingly prone to fracture, was the most common, non-intestinal manifestation of celiac disease in the study.
Sjogren’s syndrome
Dry eyes and a dry mouth characterize this immunoglobulin (IgA) deficiency disorder. other research suggests that nearly 15 percent of those with Sjogren’s syndrome also have celiac disease.
Turner Syndrome
In this chromosomal disorder, which only affects females, a crucial part of the sex chromosome is missing. Studies confirm that the syndrome puts patients at greater risk for celiac disease.
