Celiac disease

Summary

Celiac disease is an autoimmune disease in which people can’t eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. Gluten is a protein found in wheat, rye, and barley. It is found mainly in foods but may also be in other products like medicines, vitamins and supplements, lip balm, and even the glue on stamps and envelopes. Celiac disease affects each person differently. Symptoms may occur in the digestive system, or in other parts of the body. One person might have diarrhea and abdominal pain, while another person may be irritable or depressed. Irritability is one of the most common symptoms in children. Some people have no symptoms. (see also Dermatitis Herpetiformis).

(Autoimmune Association, 2022)

Symptoms

The signs and symptoms of celiac disease can vary greatly and differ in children and adults. Digestive signs and symptoms for adults include:

• Diarrhea

• Fatigue

• Weight loss

• Bloating and gas

• Abdominal pain

• Nausea and vomiting

• Constipation

However, more than half the adults with celiac disease have signs and symptoms unrelated to the digestive system, including:

• Anemia, usually from iron deficiency

• Loss of bone density (osteoporosis) or softening of bone (osteomalacia)

• Itchy, blistery skin rash (dermatitis herpetiformis)

• Mouth ulcers

• Headaches and fatigue

• Nervous system injury, including numbness and tingling in the feet and hands, possible problems with balance, and cognitive impairment

• Joint pain

• Reduced functioning of the spleen (hyposplenism)

Children

Children with celiac disease are more likely than adults to have digestive problems, including:

• Nausea and vomiting

• Chronic diarrhea

• Swollen belly

• Constipation

• Gas

• Pale, foul-smelling stools

The inability to absorb nutrients might result in:

• Failure to thrive for infants

• Damage to tooth enamel

• Weight loss

• Anemia

• Irritability

• Short stature

• Delayed puberty

• Neurological symptoms, including attention-deficit/hyperactivity disorder (ADHD), learning disabilities, headaches, lack of muscle coordination and seizures

Dermatitis herpetiformis

Gluten intolerance can cause this itchy, blistering skin disease. The rash usually occurs on the elbows, knees, torso, scalp and buttocks. This condition is often associated with changes to the lining of the small intestine identical to those of celiac disease, but the skin condition might not cause digestive symptoms.

Doctors treat dermatitis herpetiformis with a gluten-free diet or medication, or both, to control the rash.

(Autoimmune Association, 2022)

Diagnostic Criteria

Under Investigation

Study Classification Criteria

Under Investigation

Diagnostic Tests

Under Investigation

Organized Autoimmunity

(Alternative Autoimmune Disease Classification: FIEM, MIEM or BIEM)

1. sex predominance (is an autoimmune disease primarily found in genetic Females, Males, or equally in Both?)

   1. Female, Male, or Both. Under Investigation.

2. Inherited and acquired gene variations that cause increased susceptibility

   1. Human Leukocyte Antigen (HLA) Associations

      1. HLA-DQ2 or DQ-8 alleles (Lundin & Sollid, 2014). “HLA-DQ2 or HLA-DQ8 genes, with environmental triggers of ingestion of gluten. Note that approximately 40% of the population has these genes, but only about 3% of this group has celiac disease.” (Global Autoimmune Institute, 2023)

   2. Gene Variations (mutations) Associated with Disease

      1. CTLA4 cytotoxic T-lymphocyte associated protein 4 [ Homo sapiens(human)]

         1. “This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases.” (National Institutes of Health, 2023)

      2. SH2B adaptor protein 3

         1. “This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus.” (National Institutes of Health, 2023)

3. Gene Triggering Environmental Exposures

   1. Infections

      1. COVID-19 (Chang et. al, 2023, found a significantly higher risk of Celiac disease following COVID-19 infection in a study of 3,814,479 participants)

   2. Toxins

      1. Under Investigation

   3. Stress

      1. Under Investigation

4. Multiple interactive and destructive immune system pathologies

   1. Under Investigation

Tissue-Type or Cell-Type Attacked

Under Investigation

Treatment

Under Investigation

Managing Specialist(s)

Under Investigation

Research Authors

Under Investigation

Research Institutions

Under Investigation

Average Time from Symptom Onset to Diagnosis

Under Investigation

Last Updated

September 05, 2023

References

Celiac Disease. Autoimmune Association. (2023, December 23). Retrieved January 25, 2023 from https://autoimmune.org/disease-information/celiac-disease/

Celiac Disease. Global Autoimmune Institute. (2023). Retrieved January 25, 2023 from https://www.autoimmuneinstitute.org/celiac-disease/

Chang R, Yen-Ting Chen T, Wang SI, Hung YM, Chen HY, Wei CJ. Risk of autoimmune diseases in patients with COVID-19: A retrospective cohort study. EClinicalMedicine. 2023 Feb;56:101783. doi: 10.1016/j.eclinm.2022.101783. Epub 2023 Jan 10. PMID: 36643619; PMCID: PMC9830133.

CTLA4 cytotoxic T-lymphocyte associated protein 4 [ Homo sapiens (human) ]. National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, Gene Database. (2023). Retrieved February 17, 2023 from https://www.ncbi.nlm.nih.gov/gene/1493

Lundin KE, Sollid LM. Advances in coeliac disease. Curr Opin Gastroenterol 2014; 30: 154–162.

SH2B3 SH2B adaptor protein 3 [ Homo sapiens (human) ]. National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, Gene Database. (2023). Retrieved February 16, 2023 from https://www.ncbi.nlm.nih.gov/gene/10019