Celiac disease

Background[1][2][3]

  • Also known as “Celiac Sprue”
  • Affects 0.6 to 1.0% of worldwide population
  • Occurs in industrialized countries and developing countries among all ethnicities and races
  • Occurs in children and adults
  • 1.5 to 2 times more prevalent in females than in males
  • Gluten is found in wheat, rye, and barley
  • Associated with strong family history, Type 1 DM, autoimmune thyroid disorders along with other autoimmune disorders, Turner’s syndrome, and Down’s syndrome
  • Rotavirus infection in children increases risk of developing disease
  • Breastfeeding reported to reduce risk by 50%
  • MHC class II proteins HLA-DQ2 (90%) and HLA-DQ8 are expressed in almost all of patients affected by Celiac disease

Pathophysiology[1][2]

  • Gluten triggers an immune mediated systemic disorder
  • Can be weeks to years between gluten exposure and onset of symptoms
  • Gluten is mainly composed of prolamine and glutanin
    • Prolamines (such as Gliadin found in wheat) interact with intestinal cells to cause breakdown of the inter-enterocyte tight junctions
  • Proposed that HLA-DQ2 and HLA-DQ8 present prolamines to antigen-specific CD4+ T lymphocytes in lamina propria of the small bowel
  • Once activated, CD4+ T cells release pro-inflammatory cytokines and activate T-helper cells
  • Proinflammatory cytokines such as IL-15 stimulate CD8+ T-lymphocytes
  • T-helper type 1 cells release IFN-gamma
  • T-helper type 2 cells promote conversion of B cells to plasma cells that produce anti-gliadin and anti-tissue-transglutaminase antibodies that are used in serologic testing
  • This process leads to celiac enteropathy with histological features such as decreased enterocyte height, crypt hyperplasia, villous atrophy, and increased intraepithelial T lymphocytes

Clinical Features

Classic Features

  • Classically presents around 6 to 18 months of age when foods containing gluten are introduced but can occur anytime
  • Chronic diarrhea
  • Weight loss
  • Abdominal distension
  • Iron deficiency with or without anemia
  • Aphthous stomatitis
  • Short stature
  • High aminotransferase levels
  • Chronic Fatigue
  • Reduced bone mineral density

Atypical Features

  • Few or no gastrointestinal symptoms
  • Older children or adults
  • Dermatitis herpetiformis
  • Gluten Ataxia

Silent or Asymptomatic From

  • Patients have no symptoms
  • Diagnosed based on serology of histology
  • Found in patients with strong family history of disease, autoimmune disorders, chromosomal disorders (Down’s syndrome)

Refectory Form

  • Persistent or recurrent symptoms or villous atrophy despite gluten free diet for 12 months

Celiac Crisis[4]

  • Life threatening
  • Often observed after a general immune stimulus such as surgery or infection
  • Mostly observed in children
  • Severe diarrhea
  • Hypoproteinemia
  • Metabolic and electrolyte disturbances

Complications from untreated disease[1][2][3]

  • Osteoporosis
  • Impaired splenic function
  • Infertility
  • Recurrent abortion
  • Ulcerative jejunoileitis
  • Enteropathy-associated intestinal T-cell lymphoma
  • Adenocarcinoma of the jejunum
  • Non-Hodgkin lymphoma

Differential Diagnosis

Evaluation[1]

  • Important to rule out emergent causes of abdominal pain such as appendicitis, small bowel obstruction, bowel perforation, etc.
  • Depending on presentation, chemistry panel and/or abdominal imaging may be appropriate in the emergency department setting
Test Sensitivity Specificity Comments
IgA anti-tTG antibodies >95 >95 Screening test
IgG anti-tTG antibodies Variable Variable Screening test in patients with IgA deficiency
IgA antendomysial antibodies >90 98.2 Useful if diagnosis unclear
IgG DGP >90 >90 IgA deficiency and young patients
HLA DQ2 or HLA-DQ8 91 45 High NPV

Celiac Crisis[4]

  • History and physical
  • Assessment of volume status
  • CBC to look for evidence of iron deficiency anemia
  • CMP
  • VBG
  • Lactic acid
Signs of severe dehydration including: hemodynamic instability and/or orthostatic changes
Neurologic dysfunction
Renal dysfunction: creatinine >2.0 g/dL
Metabolic acidosis: pH <7.35
Hypoproteinemia (Albumin < 3.0 g/dL)
Abnormal electrolytes including: hyper/hyponatremia, hypocalcemia, hypokalemia or hypomagnesemia
Weight loss > 10 lbs

Management

Uncomplicated Celiac disease

  • Avoid wheat, rye, barley which all contain gluten
  • Possible benefit to avoiding large amounts of Oats
  • IV fluids if necessary

Celiac Crisis[4]

  • Fluid resuscitation
  • Oral or IV steroids
  • Supplemental nutrition
  • Electrolyte repletion
  • Gluten free diet

Disposition

Uncomplicated Celiac disease

  • Primary care follow up:
    • Serology, histology, and likely EGD
    • consultation with dietitian
    • treatment of nutritional deficiencies
    • referral to specialists
    • serologic monitoring for recurrence

Celiac Crisis

  • Hospital admission

See Also

References

  1. 1.0 1.1 1.2 1.3 Fasano A, Catassi C. Celiac Disease. New England Journal of Medicine. 2012;367(25):2419-2426. doi:10.1056/nejmcp1113994.
  2. 2.0 2.1 2.2 Parzanese I. Celiac disease: From pathophysiology to treatment. World Journal of Gastrointestinal Pathophysiology. 2017;8(2):27-38. doi:10.4291/wjgp.v8.i2.27.
  3. 3.0 3.1 Freeman HJ. Adult Celiac Disease and Its Malignant Complications. Gut and Liver. 2009;3(4):237-246. doi:10.5009/gnl.2009.3.4.237.
  4. 4.0 4.1 4.2 Jamma S, Rubio–Tapia A, Kelly CP, et al. Celiac Crisis Is a Rare but Serious Complication of Celiac Disease in Adults. Clinical Gastroenterology and Hepatology. 2010;8(7):587-590. doi:10.1016/j.cgh.2010.04.009.