ASGE Advanced Practice Provider Case of the Month
Stacia Sackmaster, APN-BC, Corrie Scott, APN,
and Joseph Vicari, MD, MBA, FASGE
Rockford Gastroenterology Associates, Ltd.
Rockford, IL
Stacia Sackmaster, APN-BC
Corrie Scott, APN-BC
Joseph Vicari, MD, FASGE
Case 5
A 20-year-old white female presented to the GI clinic with a chief complaint of “fatigue and low blood count.” She is an elite athlete. She runs cross country for a division 1 university. Approximately three months ago, she noted significant fatigue after training regimens. Two months ago, she noted steadily decreasing times for her cross country runs. She also noted daily fatigue unrelated to training. She has a lifelong history of constipation, having two to three bowel movements per week. Over the last two months her bowel habits have changed. She now has one to two daily, formed, non-bloody bowel movements. She denies any other symptoms. Specifically, no weight loss, no abdominal pain and no GI bleeding. She has no chronic medical problems and does not take any medication, vitamins or supplements. Evaluation by her primary physician revealed an Hgb of 10.8 and a slightly decreased mean corpuscular volume. Of note, she states her grandmother (originally from western Ireland) has some type of “GI disease.”
What is the most likely etiology for this patient’s fatigue, anemia and change in bowel habits?
- Irritable bowel syndrome
- CDI (Clostridioides difficile infection)
- Celiac disease
- Peptic ulcer disease
The correct answer is C, celiac disease.
Practice Pearls
Celiac disease is an immune disorder triggered by gluten. It occurs in genetically predisposed individuals. There is a close association with human leukocyte antigen DR3-DQ2 and/or DR4-DQ8 gene locus.1
Gluten is a protein found in wheat, which helps foods maintain their shape and integrity. A peptide derived from gluten, gliadin, damages the small intestine.1
Celiac disease causes enteropathy of the mucosal layer of the small intestine. Pathologic changes found in duodenal biopsies include villous atrophy with complete loss of villi, crypt hyperplasia and increased intraepithelial lymphocytosis.2
U.S. prevalence is approximately 1:130. High-risk groups include first- and second-degree relatives of patients with celiac disease, Type 1 diabetes, autoimmune thyroiditis, and Down and Turner syndromes.1,3
Definitions of celiac disease include classic celiac disease (diarrhea and signs or symptoms of malabsorption), atypical celiac disease (minor gastrointestinal symptoms and usually extraintestinal manifestations, such as anemia or abnormal aminotransferases), latent celiac disease (a previously used term to describe celiac disease typically diagnosed in childhood and resolution of symptoms as an adult despite not adhering to a gluten-free diet) and refractory celiac disease (persistence of symptoms and villous atrophy despite adhering to a gluten-free diet).1
Gastrointestinal manifestations may include diarrhea with large, malodorous stools and weight loss. The severity of the histologic changes in the small bowel does not necessarily correlate with the severity of clinical manifestations.
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