Celiac Disease Manifesting as Severe Malabsorption
Case Presentation: A 20-year-old man with type 1 diabetes, hypothyroidism, and hypomagnesemia presented for evaluation of hypocalcemia. Patient reported progressive lack of motivation and depression. He developed lower extremity swelling and abdominal distention over the past 3 months. He denied fatigue, heat or cold intolerance, weight change, polydipsia, polyuria, chest pain, palpitations, shortness of breath, abdominal pain, diarrhea, muscle spasms, perioral numbness or tingling. On exam, patient was ill-appearing. His BMI was 20.7 kg/m2. He had sparse facial and body hair and exhibited pallor. Heart was regular rate and rhythm. Abdomen was distended, and patient had pitting lower extremity edema extending to the knees. Chovstek’s sign was positive. Lab work revealed leukocytosis (WBC16.6 B/L), anemia (Hgb 8.6 g/dL), hypokalemia (3.1 Meq/L), hypomagnesemia (1.0 mg/dL), hypocalcemia (ionized calcium 0.76 mmol/L), hypoalbuminemia (2.7 g/dL), transaminitis (AST168 IU/L, ALT 81 IU/L) with normal total bilirubin, hypothyroidism (TSH 383.640 uIU/mL, FT4 0.56 ng/dL), hyperparathyroidism (PTH 193 pg/mL), and low vitamin D 25 Hydroxy (9.1 ng/mL). Hemoglobin A1c was 15%. EKG showed sinus tachycardia with no acute changes; QTc was prolonged at 495 msec. X ray of the abdomen revealed distended bowels without obstruction. Patient received intravenous calcium gluconate, calcitriol, and magnesium. CT abdomen revealed enteritis with extensive mesenteric adenopathy. AM cortisol, LH and FSH were normal. Total and free testosterone were low (130 ng/dL and 19 ng/dL respectively). Iron and ferritin were low (14 mcg/dL and 7 ng/mL respectively), vitamin B12 was normal, folate was low (5.5 ng/mL). Upon further questioning, patient revealed he had been avoiding bread and pasta, as these worsened his abdominal distention. Patient underwent esophogastroduodenoscopy which revealed scalloped duodenal folds without frank inflammatory changes. Endomysial antibodies were negative, tissue transglutaminase antibody was greater than 100 U/mL. Pathology showed chronic duodenitis with marked villous blunting with intraepithelial lymphocytosis consistent with celiac disease. Patient was initiated on gluten free diet and discharged on oral calcium, magnesium, vitamin D, and iron supplementation. At 2 weeks follow up, patient showed improvement in pallor and abdominal distention, and lower extremity edema had resolved. Patient’s calcium, magnesium, and TSH were all improved.
Discussion: Celiac disease is a chronic inflammatory gluten mediated enteropathy with variable manifestations, although classically presenting with weight loss, chronic abdominal pain and diarrhea. Patient’s with autoimmune diseases such as type 1 diabetes and hypothyroidism are at elevated risk of developing this disorder. Untreated, it can lead to severe malabsorption and also increase the risk of certain malignancies such as lymphomas. Thus, early recognition and diagnosis is critical. Diagnosis is made with serologic testing of tissue transglutaminase-IgA antibody levels and bowel biopsy. Celiac disease is often easily treated with avoidance of consumption of gluten containing products.
Conclusions: Celiac disease is a significant and often debilitating syndrome affecting multiple organs. Diarrhea is the most common manifestation. However, patients can lack gastrointestinal symptoms and only present with signs of malabsorption. Thus, patients with evidence of poor nutrient absorption should be tested for the disease.
Mir, I. (2019). Celiac Disease Manifesting as Severe Malabsorption. Retrieved from https://scholarcommons.towerhealth.org/gme_int_med_resident_program_read/65