EM@3AM: Celiac Disease

Author: Brit Long, MD (@long_brit, EM Attending Physician, San Antonio, TX) // Reviewed by: Alex Koyfman, MD (@EMHighAK)

Welcome to EM@3AM, an emDocs series designed to foster your working knowledge by providing an expedited review of clinical basics. We’ll keep it short, while you keep that EM brain sharp.

Vital signs include BP 92/68, HR 82, T 98F oral, RR 17, SpO2 98% on RA. She has ulcers along the buccal mucosa. Her abdomen is soft and nontender, and while she appears tired, the rest of the exam is normal.

What is the patient’s diagnosis?

Background:

• Also known as gluten-sensitive enteropathy, celiac disease affects 0.6-1% of the population worldwide.
• It affects all ages, ethnicities, and races in industrialized and developing countries.
• Celiac disease is more common in females (1.5-2x more common) compared to males.
• While classically thought to present in children, the disease typically presents between the ages of 10-40 years.
• HLA-DQ2 and DQ8 (MHC class II proteins) expressed in almost all patients with Celiac disease.
• Those with family history of Celiac disease, type 1 diabetes, autoimmune disorders, pulmonary hemosiderosis, Down syndrome, and Turner’s syndrome are at higher risk.
• Rotavirus infection in kids has been associated with Celiac disease.
• Breastfeeding may reduce the risk of developing Celiac disease.

Pathophysiology:

• Celiac disease is an immune mediated disorder triggered by gluten, most commonly affecting the small intestine. It may be years following gluten exposure before symptoms develop.
• Gluten is present in barley, rye, wheat and primarily consists of glutenin and prolamin (prolamin interaction with intestinal cells can destroy enterocyte tight junctions).
• HLA-DQ2 and DQ8 may present prolamins to CD4 T cells, which release cytokines and activate T helper cells. T helper cells activate CD8 T cells and B cells, resulting in further cytokine and antibody release.
• Intestinal damage marked by decreased height of enterocytes, hyperplasia of crypts, villous atrophy, and increased T cells.
• The severity of histologic changes is not correlated with severity of clinical manifestations.

History and Exam:

• The classic presentation is at 6 months to 1.5 years when gluten-containing food are introduced, but literature suggests it presents more frequently between 10-40 years.
• Chronic diarrhea with steatorrhea is one of the most common manifestations.
  • Stool is typically bulky, foul-smelling, floats.
• Weight loss may occur with chronic diarrhea and malnutrition from poor absorption. In children, short stature is common.
• Patients may have abdominal pain and distension, but they should not have peritonitis.
• Dermatitis herpetiformis with grouped pruritic papules and vesicles can occur. The rash resembles scabies, with clusters around elbows, knees, shoulders, back, and buttocks.
• Atrophic glossitis with oral lesions and burning sensation to the tongue. Aphthous stomatitis with mucosal ulcers may also occur.
• Chronic fatigue can occur.
• Iron deficiency usually present due to poor absorption.
• Metabolic bone disorders with reduced bone density may also occur.
• Neuropsychiatric symptoms can include headache, neuropathy, ataxia, depression, anxiety.
• Asymptomatic form: no symptoms, diagnosed based on histology or serologic screening, typically occurs with significant number of risk factors for Celiac disease.
• Atypical features include few/no GI symptoms, older children or adults with first presentation, neurologic symptoms, infertility, dental enamel changes.
• Latent: Previous asymptomatic celiac disease, positive serology but no histologic changes.
• Refractory: persistent/recurrent symptoms for 12 months despite gluten free diet.
• Celiac crisis: usually occurs in children after a stressful stimulus (infection), life-threatening, severe diarrhea.
  • Marked by severe illness with hemodynamic instability, neurologic changes/dysfunction, renal dysfunction, metabolic acidosis, albumen < 3 g/dL, abnormal electrolytes, weight loss.

Differential:

• Acute or chronic diarrhea (dependent on time period), inflammatory bowel disease, appendicitis, obstruction, perforation, mesenteric ischemia, lactose intolerance, malignancy, pancreatitis, food allergy, vitamin/mineral deficiency, irritable bowel syndrome.

ED Evaluation:

• Consider and evaluate for life-threatening cause of symptoms.
• Screening test includes IgA anti-tTG antibodies, which have > 95% sensitivity and specificity. However, these typically will not return in the ED.
• Screening for those with IgA deficiency includes IgG anti-tTG antibodies, which have variable test characteristics. If young patient with IgA deficiency, IgG DGP can be obtained.
• If diagnosis is unclear, IgA anti-endomysial antibodies can be obtained (> 90% sensitivity and specificity).
• Obtain CBC, renal function, liver function, electrolytes, venous blood gas, lactate if evidence of dehydration or significant illness is present.
• Imaging should be considered if concern for life-threatening condition is present.

Management:

• Keys to treatment as an outpatient: dietitian consultation, disease education, lifelong adherence to gluten-free diet, evaluation and treatment of nutritional deficiencies, long-term follow-up with a multidisciplinary team.
• If critically ill, administer IV fluid and steroids. Replete electrolytes and provide supplemental nutrition. Inpatient admission recommended.
  • If evidence of critical illness and/or peritonitis present, consult surgery and administer broad-spectrum antibiotics. Otherwise, GI consult can assist.
• If well-appearing and uncomplicated disease present, discuss avoiding gluten-containing foods. Treat patient symptoms, and have patient follow up with primary care for dietitian and GI specialist consultation, as well as further testing including serology.

Complications:

• Poor bone density/osteoporosis, infertility/recurrent abortion, impaired spleen function, cancer (adenocarcinoma of jejunum, non-Hodgkin lymphoma, T cell lymphoma), vital deficiencies, ulcerative jejunoileitis.

Take-home points:

• Celiac disease is an immune-mediated systemic disorder. It is more common in females but affects all races and ethnicities.
• It most commonly presents with chronic diarrhea and abdominal symptoms. Weight loss may occur.
• Celiac crisis is marked by critical illness and requires resuscitation and admission.
• Most patients with Celiac disease can be discharged with primary care follow-up for further testing and GI/dietitian referral.

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