About Silent Celiac Disease

Celiac disease is an autoimmune disorder in which the immune system attacks small intestine and other tissues. Once thought of as a rare digestive syndrome of children, it is now recognized as a chronic autoimmune disorder presenting at any age and occurring in ~1% of the world population. .

An estimated 80% of individuals with celiac disease have never been diagnosed and most of them are silent members of celiac families. “Silent celiacs” often remain without a root cause diagnosis for many years risking long-term complications of nutrition deficiencies, new autoimmune diseases, and small bowel malignancies.

The Silent Celiac Disease Iceberg

Our mission: To provide a voice for individuals, families, and healthcare providers who are seeking answers to the world-wide question:

Voices of Silent Celiac Disease: Tori’s Story

Tori Johnson, a fashion expert, lifestyle blogger, and mother from San Antonio TX, developed mysterious symptoms in 2019. She was suffering from chronic fatigue, general malaise, GI distress, and a scalp skin condition causing significant hair loss. She consulted her primary care physician and requested testing for mononucleosis. Although negative for mono, her labs showed multiple abnormalities including iron deficiency anemia, elevated liver enzymes, and thyroid dysfunction.
* Of note, tTG antibody testing for celiac disease was not performed as part of her lab work.

Tori was offered several medications including thyroid and other hormonal replacement therapies. However, before beginning any treatments, she wanted to understand the root cause of her disease. A trusted friend who had experience with Celiac Genetic Risk Screening thought Tori might be suffering from celiac disease and suggested she get tested.

What were Tori’s testing options?

Testing Options

Genetic Risk Screening

• Sample Type:
  Cheek swab, saliva, or blood
• Positive Results:
  Not diagnostic of celiac disease; options are antibody and small biopsy diagnostic testing or trial of gluten free diet
• Negative Results
  Rules out celiac disease with > 99% certainty
• Next Steps:
  Genetic risk testing is performed once in a lifetime

Preferred

Diagnostic
Testing

• Sample Type:
  Blood for antibodies and small bowel biopsy for tissue
• Positive Results:
  Diagnostic for celiac disease; confirm with genetic results
• Negative Results
  Cannot rule out celiac disease; need genetic results
• Next Steps:
  Continue regular celiac screening if positive genetics and consuming gluten

Gluten Free
Diet

• Sample Type:
  Gluten free food
• Positive Results:
  Confirms gluten sensitivity
• Negative Results
  Rules out gluten as an immune system trigger
• Next Steps:
  For definitive celiac diagnosis a *“gluten challenge” is necessary before antibody testing and biopsy can be performed.

*In a gluten challenge, individuals on a Gluten Free Diet reintroduce gluten for 6-8 weeks re-triggering the immune reaction to allow testing for definitive Diagnosis of celiac disease. A gluten challenge should only be considered for individuals with positive Celiac Genetic Risk Screening.

Tori’s Decision

Tori had no family history of celiac disease, so she opted for the GlutenID Celiac Genetic Risk Screening test expecting her results to be negative. To her surprise, she tested positive for DQ2, the gene type present in 90% if celiacs.

Inheritance of a single DQ2 is not diagnostic of celiac disease but it does make the diagnosis more likely.

In deciding on next steps Tori consulted with her healthcare provider and chose trial of a Gluten Free Diet over Celiac Diagnostic Testing.

THE REASON:
Tori was more interested in potentially restoring her health with a Gluten Free Diet than pursuing Diagnostic testing to confirm a celiac disease diagnosis.

The Ten must know facts about Celiac Disease Testing: Genetic Risk Screening versus Diagnosis versus Gluten Free Diet

1. Celiac Genetic Risk Screening is performed once in a lifetime.
2. Negative Genetic Risk Screening results rule out celiac disease with >99% certainty.
3. Positive Genetic Risk Screening results are not diagnostic of celiac disease.
4. Accurate Diagnosis requires positive genetics, antibody testing, and small bowel biopsy.
5. Dietary gluten does not affect Genetic Risk Screening.
6. Dietary gluten Is required for accurate Diagnosis by antibody testing.
7. Dietary gluten Is required for accurate Diagnosis by small bowel biopsy.
8. Individuals with negative Genetic Risk Screening will never need antibody testing.
9. Continue to include gluten in your diet if you are planning to pursue Diagnostic testing.
10.ALWAYS CONSULT WITH YOUR HEALTHCARE PROVIDER about celiac testing options.

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Testing Tori’s Family and their Results

Within six weeks of starting a Gluten Free Diet Tori began “feeling like herself” again. A visit to her primary care physician showed her lab results resolving back into the normal range. When offered the option of a “gluten challenge,” so Diagnostic antibodies and small bowel biopsy could be performed, she decided to continue her Gluten Free path to wellness.

However, out of concern for her two sons (ages 7 and 3) Tori requested family GlutenID Celiac Genetic Risk Screening. She included her mother and maternal grandparents who had a history of “mysterious” illnesses suggesting the origin of Tori’s DQ2 inheritance. All GlutenID samples were collected at home by the family using cheek swabs and sent to the lab in the GlutenID test kit box.

GlutenID Test Results
• Tori was very relieved to learn her sons and husband were negative for celiac risk genes!!
• Tori’s mother, and maternal grandparents were positive for DQ2 and at risk for celiac disease.

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