When Brian Bosworth, MD, was an internal medicine resident in the fall of 2002, he went in for a routine checkup with an internist. What he did not realize at the time was that the appointment would lead to a diagnosis of celiac disease.
“I went in to see my internist for a regular checkup, and as part of the normal history and physical, she did some quote-un-quote routine labs, or screening labs, which included a blood count, a cholesterol level, looking at kidney function, electrolytes, liver tests and some vitamins,” said Bosworth, now chief of medicine, NYU Langone Health Main Campus, Tisch Hospital.
He shares that “everything was normal—my history and all of the lab work was pretty much normal, with the exception of two or three of my liver tests, [which] were slightly elevated.” Given his knowledge of medicine as an internal medicine resident, he found the elevated liver tests surprising. His liver tests were run again approximately three months later, and they remained elevated. Bosworth’s doctor referred him to a gastroenterologist to be evaluated.
His evaluation included “an ultrasound of my liver, which was normal, as well as a number of tests for chronic liver diseases,” he shares. The GI also tested him for celiac disease since, as Bosworth notes, “celiac disease can sometimes cause abnormal liver tests in the pattern that I had, which were an elevated AST and ALT, which are transaminase enzymes that are made by the liver.” When the results came back, there was something unexpected.
“All of those liver-specific tests came back negative, but my celiac serologies were through the roof.” Bosworth had an endoscopy and biopsy, and was found to have subtotal villus atrophy and was diagnosed with celiac disease. Of note, he had already been accepted to a fellowship in gastroenterology at the time of his diagnosis.
Blood draws tell a story
Bosworth’s celiac disease diagnosis began with a regular checkup at the internist. It was his internist who spotted the elevation in the liver tests and referred him to a gastroenterologist for further investigation.
His road to diagnosis demonstrates that there is no one path to a celiac disease diagnosis. It also serves as an example that, for some individuals, routine labs run at a checkup can provide important information that can lead to testing for celiac disease. While for him it was elevated liver tests, there are several values in bloodwork that might indicate a patient should be tested for celiac disease.
“There are several common blood test abnormalities that might lead to a diagnosis of celiac disease, including anemia (which follow-up testing may reveal deficiencies in iron, folic acid, or vitamin B12), elevated liver enzymes or low HDL (‘good’) cholesterol,” explains Benjamin Lebwohl, MD, MS, director of clinical research, The Celiac Disease Center at Columbia University. “People with celiac disease can present with any of these abnormalities, and it is reasonable to test for celiac disease if these abnormalities are picked up on routine testing.”
The question arises whether there are any statistics on how many patients are diagnosed because of routine bloodwork. “Statistics on this topic are hard to come by,” says Lebwohl. The inability to quantify patients diagnosed via routine blood draws is because of crisscrossing of symptoms and how they come to a physician’s attention.
For example, as Lebwohl notes, “some patients with iron deficiency may come to medical attention due to fatigue, while others may have the condition picked up on routine testing, but they may both be classified as having ‘non-classical’ celiac disease, which is a large category that encompasses both types of patients.” Additionally, “others may feel well but then be found to have iron deficiency, and then (after diagnosis of celiac disease) discover that in retrospect, they had significant fatigue. So categorization of such patients has been difficult.”
The role of an internist
Given that an internist may be the first person to recognize abnormalities in blood tests, it’s important to consider the role they play in their patients’ healthcare.
Sandy Balwan, MD, an internist at Northwell Health, refers to internists like herself as “the quarterback of all the services” since they get the ball rolling, so to speak. They are there for “the whole person” and to provide both a “physical as well as mental health check” for their patients. She notes that at a checkup, the questions asked are “universal,” meaning they are asked to all patients, providing the opportunity “to have an objective conversation with the patient without passing judgement.”
For internists, blood tests can tell an important story. Balwan explains that “bloods can reveal that something is happening” and provide “early signs before [a] patient is experiencing any symptoms,” and this offers, as she refers to it, the opportunity to conduct “surveillance.”
When a physician has the results, they can “have an even more in-depth conversation” with the patient and, if necessary, discuss the next course of action.
One of the very important roles an internist can play for their patient is as a navigator. Balwan refers to it as a partnership between the physician and patient. “You need to partner with someone who can help you navigate the healthcare system,” she explains, whether it is for finding a specialist or explaining what takes place at an age-appropriate screening.
Perspective on diagnosis
Bosworth’s diagnosis 17 years ago was a mixture of emotions. “It was definitely a surprise to me when the serologies came back,” and he notes that at that time “the awareness of celiac disease was much, much lower, and the concept of a gluten-free diet or gluten-free foods was quite uncommon.” Being an internal medicine resident at the time of his diagnosis also meant that he found “so many aspects” of his path to diagnosis “fascinating.”
Bosworth feels very fortunate that his bloods were run. “I’m very glad that they were sent and that I was diagnosed when I was because after diagnosis and meeting with a nutritionist and going on a gluten-free diet, I also had a bone density scan done, a DEXA scan.” The results showed that his bone density was “essentially 4.7 standard deviations below that of a healthy 30-year-old male.” This meant he was in the osteoporosis zone and was at risk for serious bone issues.
His diagnosis also provided a unique perspective as a physician. “Certainly being on the patient side of things gives you a different awareness and sensitivity to challenges that patients face,” he shares. “I think that being able to give good insight into a gluten-free diet for patients…is important and really strengthens that therapeutic alliance that I form with patients who have celiac disease or gluten intolerance.”
Thinking about celiac disease
Given that there is no single symptom or path to a celiac disease diagnosis, it’s important to consider how individuals who are screened because of values from routine blood draws fit in to how we think about celiac disease.
“Individuals who are tested and diagnosed with celiac disease based on abnormal lab values may not have obvious symptoms of celiac disease but these findings are signs of celiac disease and the damage that is occurring in the body,” explains Maureen Leonard, MD, MMSc, Clinical Director, Center for Celiac Research and Treatment.
For these individuals, the lab values actually might not have been there only symptom. “Often these patients, once properly diagnosed with celiac disease, find that once on a gluten free diet, symptoms they did not notice like reflux, abdominal pain, fatigue, peripheral neuropathy, and joint pains may improve.”
As far as the role of an internist, Leonard notes that they are “a strong ally in celiac awareness and diagnosis” as are many others in the healthcare field. “As gastrointestinal doctors we must also do our best to help educate our patients and our colleagues including those who are internists, rheumatologists, OB-GYN, endocrinologists and the list goes on. Since celiac disease is systemic and can affect any part of the body, it is important that physicians in all specialties are aware of the symptoms and signs of celiac disease.”
Susan Cohen is a New York freelance writer and a regular contributor to Gluten-Free Living.
