Case Presentation: 35 year old woman, diagnosed with biopsy proven sarcoidosis, developed a complex clinical course over time. She started experiencing recurrent watery diarrhea, accompanied with abdominal pain and generalized weakness. Physical exam revealed thin chronically unwell female, with BP of 115/76 | pulse 94 | temperature 97.7 °F (oral) | respiratory rate 16/minute | BMI 20.49 kg/m2 | oxygen saturation 100% on room air. She also had evidence of alopecia, non specific dermatitis and clear lungs. Labs revealed hemoglobin of 11.3 g/dL, ferritin of 11 ng/mL, and 25-hydroxy vitamin D of 20 ng/mL. Stool tested negative for ova/parasites, Clostridium difficle, WBCs, cultures and viral studies. Celiac Disease (CD) work up revealed, elevated transglutaminase IgA 57 units (sensitivity 90 to 98%; specificity 95 to 97%), and elevated IgG deamidated gliadin antibodies, 77 units (sensitivity 92 %; specificity 100 %). Duodenal biopsy was suggestive of CD, with marked villous blunting, increased lymphocytes and epithelial damage, and lamina propria expanded by numerous plasma cells and crypt hyperplasia. She improved symptomatically on a gluten free diet and with replacement of her deficient vitamins.
Discussion: Sarcoidosis and celiac disease are both immune disorders, which have been associated with class II haplotype HLA-DR3, DQ2. Literature shows this combination is more prevalent in the Irish population. CD involves the small bowel and can lead to multiple vitamin deficiencies. More importantly there is an association between CD and cancers, mainly B cell lymphoma and gastrointestinal cancers. Diagnosis of CD in a patient with sarcoidosis has special importance including implication for the treatment of both diseases. We present a patient with sarcoidosis and CD, given the genetic predisposition for these diseases to coexist especially in patients with Irish background; the clinician caring for the patient should be vigilant for such scenarios. Simple measures such as dietary modifications can result in immense improvement for the patient. We also need to be mindful of the long-term sequelae of CD, such as intestinal lymphoma.
Conclusions: Hence, if the patient with sarcoidosis has non-specific gastrointestinal symptoms such as bloating after meals, abdominal cramps, and diarrhea, one should strongly consider screening for coexisting CD. Given the prevalence of CD in this target population, screening could be done using relatively inexpensive tools such as IgA endomysial antibodies, or anti-tissue transglutaminase antibodies. We feel screening for CD in patients with Sarcoidosis that are complaining of GI symptoms will greatly benefit the patient and the health care system. Hence, we strongly feel that larger studies are required to validate this recommendation.