SHOW NOTES

What is refractory celiac disease? [0:25]

• Identical to celiac disease, but differs because the diagnosed celiac patient is not responding to following a 100% gluten-free diet for at least one year
• Diagnosed with celiac disease, haven’t recovered after a year of proper treatment
• 3/6/12 month post-celiac diagnosis physician follow-up article: https://drrobertpastore.com/articles/2020-02-27-what-is-the-proper-medical-follow-up-for-a-celiac-patient

How is refractory celiac disease diagnosed? [2:05]

• 6 step process, diagnosed through process of elimination

• #1 - Review the original diagnosis of celiac disease
  • Go back as far as you can to the medical records
  • Original biopsy, serology, DNA, etc.
    • https://drrobertpastore.com/articles/2019-08-26-what-do-you-do-if-you-think-you-may-have-celiac-disease
  • Must have confirmation that the patient was following a strict GF diet for at least 1 year but still has symptoms and villi damage
  • Be certain there is no gluten contamination because that could rule out RCD quickly
    • Medications, supplements, spices, cross contamination

• #2 - Identify any other condition that can negatively impact the villi
  • Cancers such as intestinal lymphoma
  • Inflammatory bowel disease (IBD) such as Crohn’s disease, microscopic colitis, hypogammaglobulinemia (is an immune system abnormality that results in reduced antibody production making enough antibodies called immunoglobulins)
    • Can have celiac and one of the diseases above
    • Sometimes celiac disease is the cause of the IBD
  • Small intestinal bacterial overgrowth (SIBO)
  • Reaction or overuse of NSAIDS or reaction to NSAIDS, etc.
    • Over the counter pain medications
      • Acetaminophen, Tylenol, Advil

• #3 - Endoscopy and colonoscopy must be performed, with biopsies taken at both sites.
  • Repeat endoscopy, with biopsy
  • Even if colonoscopy wasn’t performed previously, complete with biopsy

• #4 - If possible, get a capsule endoscopy
  • Swallowing a camera in a pill format
  • Takes photos throughout digestive tract
  • Obtains excellent images and identifies some inflammation and ulceration

• #5 - If warranted, a:
  • CT scan (computerized tomography)
  • MRE (Magnetic resonance enterography)
  • Barium x-ray
    • radiographic (X-ray) examination of the gastrointestinal (GI) tract.
    • Barium absorbs x-rays and appears white on the images to show full shape of gastrointestinal tract
  • Tests should be done particularly if there is any suspicion of lymphoma.
  • May be multiple diagnoses during the search for the cause behind suspected refractory celiac disease

• #6 - Fecal fat and pancreatic tests
  • Steatorrhea common symptom of celiac disease
    • Floating, fatty stools

• If patient passes through all tests above and there are no other medical concerns identified, they can be categorized as refractory celiac disease
• All 6 tests can take approximately 1.5 months if done promptly

Two types of refractory celiac disease [16:05]

• Type 1 (85% of refractory celiac disease)
  • Better prognosis than Type 2
  • Characterized by abnormal/immature intestinal epithelial lymphocytes
    • Seen on repeat biopsy
• Type 2 (15% of refractory celiac disease)
  • High risk of lymphoma
  • Malnutrition
  • Inflamed, ulcerations in intestines present combined with destructed microvilli
    • Ulcers in jejunum of small intestine

How common is refractory celiac disease in diagnosed celiacs? [17:50]

• Harvard reports 1.5% of all celiac disease patients over the age of 50 will have Type 1 Refractory Celiac Disease
• Dr. Pastore in practice has seen 1-2%
• Those numbers are slowly starting to increase
• Not often found in pediatric population
  • Experts not aware of children cases
• Typically those aged 50+

Signs & symptoms of refractory celiac disease [19:50]

• Classic & non-classic symptoms, magnified in severity & not improving after 12 months of being militantly gluten-free
  • Symptom list: https://drrobertpastore.com/articles/2019-08-19-celiac-disease-a-clinical-chameleon
• Nausea → severe & frequent nausea & vomiting
• Diarrhea → Haven’t had normal bowel movement in months

Difference between celiac disease & refractory celiac disease? [21:25]

• Refractory celiac disease patients have ulcerative junjentis
  • Ulcerations in small intestine
  • Presents with gastrointestinal symptoms
  • Risk for small intestine cancer
    • T-Cell based lymphomas
  • Internal images/evidence must be done for diagnosis
    • Capsule endoscopy

What causes refractory celiac disease? [23:50]

• Not caused by gluten consumption
• Science is not 100% sure of what causes refractory celiac disease
• With normal celiac disease, T-cells attack with presence of gliadin (gluten)
• When following a gluten-free diet, these T-cells become inactive
• In refractory celiac disease, intestinal T-cells are still active, even with the elimination of gluten
  • Results in continued destruction of villi & microvilli
  • Involved interleukin 15
    • Pro-inflammatory cytokine that stimulates production of interferon gamma
      • Cytokines are small proteins secreted by cells that have a major impact on the normal communication system between cells
    • Drives intraepithelial lymphocytes to attack small intestine cells
  • Immune system still attacking small intestine
  • If prolonged, can cause small intestinal cancers

How is refractory celiac disease treated? [26:40]

• All must be combined with extremely militant gluten-free diet (only eat at home for the next full year, no outside food)
• Steroid therapy
  • Powerful anti-inflammatories to control immune system reaction
• Other immuno-supressant drugs
• Chemotherapy combined with medications
  • Even in pre-cancerous or non-cancerous cases
  • Calm the aggressive immune system response
• Elemental diet
  • Liquid diet that required zero digestion
  • Vitamins, minerals, nutrients, amino acids, triglycerides - all pre-broken down to be absorbed
  • Used to treat cases with malnutrition
    • Many celiac symptoms caused by malnutrition
• Total parenteral nutrition (TPN)
  • Intravenous nutrition, patient is not eating food
  • Last-resort, no longer requires utilization of gastrointestinal tract
    • Muscularis in gastrointestinal tract becomes flaccid
    • Change of gut microbiome, risk of intestinal bacterial overgrowth

Identify secondary intolerances, food sensitivities and true allergies beyond a celiac’s reaction to gluten [31:45]

• Other food reactions happen in concert (at the same time) as reaction to gluten and patient is not actually refractory celiac disease

• Fructose intolerance can mimic refractory celiac disease in diagnosed celiacs
  • Fructose - naturally occurring sugar in fruit

• Could be lactose intolerance in celiac disease patients, not refractory celiac disease
  • Immunologically reacting to lactose
  • T-cells remain active because of regular lactose consumption
  • Remove lactose & dairy, symptoms go away, not actually refractory celiac
  • https://drrobertpastore.com/articles/2020-03-12-lactose-intolerance-and-celiac-disease

• Condition known as eosinophilic esophagitis
  • Type of White blood cells (eosinophils) start attacking epithelial tissue
  • Caused by non-IgE immune system mediated reaction
    • Not an allergy, but an immune system response
  • Eosinophils get into esophagus, leads to condition called Barrett's esophagus
    • Pre-cancerous condition of lining of esophagus

When suspecting refractory celiac disease, also get tested for other food reactions that may be causing the symptoms [35:20]

• IgE (allergies)
• Non IgE mediated reactions (genetics, blood tests)
• Skin-scratch test for mass-cell histamine response
• Dr. Pastore has corrected 100% of all his patients diagnosed refractory celiac disease cases
  • Most caused because of other food reaction
  • Some due to gut microbiome species being off-balance
  • Could be combined with other conditions (such as microscopic colitis)
  • Treatments include medications such as antibiotic, probiotic + elimination diet

What a diagnosed celiac should discuss with their doctor is they suspect refractory celiac disease? [39:15]

• Assume your physician isn’t aware of these issues or conditions
• Medical history & record review
• Identify other causations
• Endoscopy & colonoscopy with biopsy
  • Capsule endoscopy if possible
• Assess risk for lymphomas, run diagnostics
• Fecal fat & pancreatic output testing
• Get referred to gastroenterologist
• See someone to get a full profile of tests for IgE allergies & non-IgE immunological food reactions
  • Tests to have completed for food reactions found in show notes here: https://drrobertpastore.com/podcasts/010-on-food-tolerances-and-athletic-performance-part-2

Provide your physician with Dr. Pastore’s information if they want further clarification - he WANTS to help educate physicians [43:00]

• www.drrobertpastore.com
• @drrobertpastore