Every year, the BI 265 Jan Plan class holds student run Grand Rounds presentations. A Grand Round presentation is usually done by a doctor and patient (or actor) in front of other doctors to educate them of a surprising finding or elusive diagnosis, thereby helping the doctors in attendance better diagnose the problem in the future. This year a group presented about a man who had Celiac disease but presented as a cardiac patient (check out Ari, Danielle, and Laurel’s Grand Rounds presentation on celiac disease). It inspired me to tell my own story of being diagnosed with Celiac disease.
When I was 10 years old, I started to notice that when I coughed, there were small specks of blood in the mucous. Originally this was dismissed as an issue with dry air, as it was winter at the time, but as time passed, it was recognized as a larger problem.
The obvious assumption was a respiratory issue, so I had X-rays done which showed a very mild case of pneumonia. Soon the Pneumonia was treated but the blood in the mucous remained. Next came a series of blood tests, consultations, more blood tests, MRIs, X-rays, and still more blood tests, of which the only result was slight anemia. Guesses ranged from Acute Interstitial Pneumonia to tuberculosis to cancer, to a stomach ulcer, but every test came back negative. Doctors wanted to do a lung biopsy to check for AIP but my parents elected to wait for the Celiac results as a lung biopsy is invasive, carries a high risk of infection and would have had a long recovery period for an active 10 year old.
Finally, after about 3 months into an attempted diagnosis, a blood test was performed to test for Celiac Disease. The test was positive. An endoscopy was performed to verify Celiac Disease, as blood tests are not 100% accurate. The doctors discovered an abnormality in the small intestine: the villi were heavily flattened. Given this new insight, and after about a month of a gluten free diet, the blood speckling disappeared.
Celiac Disease is a genetic disease in which the body has an immune reaction to the presence of gluten, a protein found in wheat, rye, and barley. After blood testing it was found that my father and sister, who was asymptomatic, both have Celiac Disease, while my mother does not. From my family you might guess that it is recessive, but the actual inheritance mechanism is still unknown. Worldwide, it is estimated that about 1% of people are diagnosed with Celiac disease while most people with Celiac Disease actually remained undiagnosed.
Sticking with the theme of Grand Rounds, my case was actually presented as a Grand Rounds discussion by Dr. Andrew Filderman once the diagnosis was reached. It is thought that these types of atypical situations go undiagnosed or are improperly diagnosed most of the time they are presented, so spreading information about Celiac Disease is an important step in providing better care to patients.