Sarcoidosis and celiac disease (CD) are both autoimmune disorders, which have been associated with class II haplotype HLA-DR3, DQ2. Literature demonstrates this combination is more prevalent in the Irish population.1 Celiac disease is caused by the ingestion of gluten, where the predisposed population (HLA BQ2 or BQ8 carriers) develop antibodies against gluten peptides. The prevalence of celiac disease ranges from 1:70 to 1:300 in most countries.2 More importantly, however, is the association between celiac disease and cancers, mainly B cell lymphoma and gastrointestinal cancers.3 Sarcoidosis is a multisystem granulomatous disorder most often found in lung parenchyma and related lymph nodes. Diagnosis of celiac disease in a patient with sarcoidosis has special importance, including implication for the treatment of both diseases.
A 35-year-old woman who was diagnosed with biopsy-proven sarcoidosis developed a complex clinical course over time. Her sarcoidosis was complicated by diffuse inflammatory arthritis, which involved her shoulders, knees, ankles, hands, and wrist. She also complained of significant and prolonged morning stiffness, but work-up for systemic lupus and rheumatoid arthritis was negative. Her sarcoidosis was otherwise stable, except for occasional flares treated with short courses of Medrol (Pfizer, New York, NY). Although her chest x-ray, computed tomography scan of the thorax, and pulmonary function tests remained stable over the course of 6 years, she started experiencing recurrent nonbloody watery diarrhea. These episodes occurred up to 7-8 times per day or night and were accompanied by abdominal cramping and generalized weakness. Over time, the patient developed other symptoms such as nonspecific dermatitis, hair loss, and oral ulcers.
Physical examination revealed mild restriction in the range of motion of both shoulders, with bilateral tenderness of the metacarpophalangeal joints and proximal interphalangeal joints. Her body mass index was 20.49 kg/m2. Labs were significant for chronic anemia, with a hemoglobin of 11.3 g/dL, low ferritin at 11 ng/mL, and low 25-hydroxy vitamin D at 20 ng/mL. Stool tested negative for ova/parasites, Clostridium difficile, white blood cells, cultures, and viral studies. She had elevated transglutaminase immunoglobulin A (IgA), 57 units, and elevated IgG deamidated gliadin antibodies, 77 units. Duodenal biopsy showed marked villous blunting, increased lymphocytes, epithelial damage, and lamina propria expansion with plasma cells and crypt hyperplasia (Figures 1and 2). The patient was placed on a gluten-free diet, which improved her symptoms substantially.
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-Dalvir Gill, MD, Kamalpreet Mann, BSc, Mitchell Lyons, BSc, Vanessa Goyes Ruiz, MD, Ryan Dean, MD, Pardeep Masuta, MD, Jaswinder Virk, MBBS, Zabeer Bhatti, MD, Fatme Allam, MD
This article originally appeared in the June 2017 issue of The American Journal of Medicine.
