TEACHING POINTS
■ Instead of having diarrhea, many patients with celiac disease may be asymptomatic or report atypical GI complaints such as constipation, abdominal pain, or lactose intolerance.
■ A substantial number of patients with celiac disease initially receive a diagnosis of irritable bowel syndrome.
■ Most patients with celiac disease never receive a diagnosis.
■ Complications associated with celiac disease include iron deficiency anemia, osteoporosis, and a modest increase in the risk of GI cancers and non-Hodgkin's lymphoma.
■ All diagnostic testing should be performed while the patient remains on a gluten-containing diet.
■ Treatment for celiac disease can alleviate symptoms, reverse nutritional deficiencies, improve bone mineral density, and minimize the risk of associated malignancy.
CASES
Two patients presented to a gastroenterology office with common complaints. The first was a 27-year-old white female seeking an opinion regarding a 2-year history of chronic constipation. The patient believed she was likely suffering from irritable bowel syndrome (IBS). She had been taking polyethylene glycol (MiraLax) daily for the past year, which seemed to control her symptoms. She was concerned, however, about the continued use of MiraLax and about the need for a workup to investigate her constipation.
The patient admitted to generalized abdominal discomfort associated with the constipation and to a history of anal fissures. She also admitted to a history of headaches and aphthous ulcers. She denied hematochezia or any systemic symptoms and was generally healthy. Her family history was significant for a sister with type 1 diabetes mellitus. The patient did not smoke and rarely drank alcohol. The physical examination was remarkable only for some mild tenderness to palpation in the lower abdomen.
The evaluation included a CBC, complete metabolic panel, thyroid-stimulating hormone, and celiac disease comprehensive panel, which included an IgA tissue transglutaminase (tTG) antibody (Ab) level and an IgA endomysial (EMA) Ab titer. The results demonstrated an elevated IgA tTG Ab level and a high IgA EMA Ab titer, supporting a diagnosis of celiac disease. Other test results were within normal limits. With the presumptive diagnosis of celiac disease, the patient implemented a gluten-free diet and, within 4 weeks, her symptoms had nearly resolved.
The second patient was a 44-year-old female who presented for evaluation of iron deficiency anemia. The anemia had been chronic for approximately 10 years, and the patient's hemoglobin level remained between 8 and 9 g/dL unless she was taking supplemental iron. During iron supplementation, the patient's hemoglobin level was as high as 12 g/dL; however, she found it difficult to comply with therapy because the iron supplement caused GI side effects, primarily constipation.
The patient denied any melena, hematochezia or change in bowel habits. She had undergone digital rectal examination 10 months earlier, and stool guaiac testing was negative for occult blood. Her menstrual periods were regular and not particularly heavy. She admitted to occasional arthralgias and fatigue but denied any other significant complaints. In addition to iron, the patient was taking OTC ibuprofen, 200 mg twice daily as needed for arthralgias.
Past illnesses included a remote history of cervical cancer treated with cryosurgery. The patient's family history was noncontributory. She did not smoke and rarely drank alcohol. The physical examination was remarkable only for pale conjunctivae.
This patient's initial workup included iron studies and celiac disease antibody testing. The results confirmed the iron deficiency and revealed a high IgA tTG Ab level, strongly suggesting a diagnosis of celiac disease. The patient subsequently underwent esophagogastroduodenoscopy (EGD) with small bowel (duodenal) biopsies. Biopsy findings, which revealed intraepithelial lymphocytosis and subtotal villous atrophy, confirmed the celiac disease diagnosis.
Because of the risk of bone loss associated with celiac disease, the patient also underwent dual energy x-ray absorptiometry, which demonstrated osteopenia. She was advised to begin a gluten-free diet and calcium and vitamin D supplementation. Additionally, she was prescribed an alternative iron supplement, Chromagen, which she tolerated. The patient's bone density and nutritional status are now appropriately monitored.