Celiac disease

Celiac disease (also called gluten-induced enteropathy) is an autoimmune disorder of the small intestine in which the body’s immune system reacts abnormally to gluten.

Gluten is a protein found in wheat, barley, and rye. When individuals with celiac disease consume gluten, it leads to inflammation and damage of the small intestinal mucosa. This results in reduced absorption of nutrients and can cause a wide range of systemic symptoms¹².

The condition occurs in genetically predisposed individuals, and there is no curative treatment. The only effective therapy is lifelong, complete exclusion of gluten from the diet.

The benefit of a gluten-free diet is that it removes the cause of the disease and allows intestinal tissue to normalize.

The limitation is that the diet is demanding, expensive, and difficult to follow in social settings. It requires extensive nutritional guidance and a high degree of vigilance regarding hidden gluten.

Prevalence and risk factors

Celiac disease occurs in about 1 in 200 people in the white population but is very rare among individuals of Asian or African descent³. People with autoimmune diseases such as type 1 diabetes are at higher risk, as are those with close relatives with celiac disease (up to 1 in 10)⁴.

Environmental factors that may increase risk include:

• Early and high gluten exposure in childhood

• Increased use of gluten-containing processed foods

• Antibiotic use and effects on the gut microbiota⁵

Symptoms and clinical presentation

Primary symptoms:

• Abdominal bloating (especially pronounced in children)

• Diarrhea or chronic diarrhea

• Abdominal pain and cramping

• Dyspepsia and digestive problems

• Weight loss

• Reduced fertility in both men and women

• Ulcerations in the gastrointestinal tract²⁶

Secondary symptoms (resulting from malabsorption):

• Fatigue and weakness

• Nausea

• Muscle atrophy

• Osteopenia or osteoporosis

• Depression and reduced quality of life

• Joint pain and nocturia (nighttime urination)

• The skin condition dermatitis herpetiformis⁷

Celiac disease is often associated with other conditions such as:

• Type 1 diabetes mellitus

• Down syndrome

• Turner syndrome

• Autoimmune liver diseases

• Addison’s disease and autoimmune thyroiditis⁸

Comorbidities and associated conditions

Patients with celiac disease have a higher risk of several complications:

• Dermatitis herpetiformis

• Pernicious anemia

• Dehydration and hypotension

• Systemic lupus erythematosus (SLE)

• Scleroderma

• Lymphoma and intestinal cancer

• Microscopic colitis

• Osteopenia and osteoporosis⁷²

Pharmacological treatment

There is no pharmacological cure for celiac disease – treatment is 100% dietary. A gluten-free diet is often challenging because:

• Gluten is present in many processed foods and may be hidden under various names

• There is a high risk of cross-contamination

• Gluten-free alternatives often lack essential vitamins and minerals⁹

Possible adjunctive treatments:

• Nutritional supplements (e.g., iron, vitamin D, B12, and folate)

• Hematinics to increase hemoglobin in iron-deficiency anemia

• Corticosteroids may be considered in cases of persistent inflammation despite a gluten-free diet²

Diagnosis

Diagnosis is made in consultation with a physician and based on a combination of clinical tests:

1. Gluten challenge: The patient consumes 4 slices of bread daily (2 for children) before testing. It is important not to start a gluten-free diet before the test is completed.

2. Blood tests (serology): Measures specific antibodies elevated in untreated celiac disease. Common tests include anti-TTG and EMA.

3. Biopsy: Several small samples from the small intestinal mucosa are examined microscopically for villous atrophy, which is characteristic of celiac disease¹⁰.

4. Other supplementary tests:

   • Barium X-ray to identify malabsorption

   • Stool test with fat analysis – fat content above 7 g/day is abnormal (steatorrhea)²¹¹

Causes and pathophysiological mechanism

Although there is no single cause of celiac disease, the condition is strongly linked to genetic factors.

About 90–95% of individuals with celiac disease carry the HLA-DQ2 or HLA-DQ8 gene variants⁶. These genes predispose to an abnormal immune response to gluten, particularly in those with first-degree relatives with the disease – where the risk is 10–15%¹².

When gluten is ingested by predisposed individuals, gluten-sensitive T cells in the small intestinal mucosa are activated. This triggers an immune-mediated inflammatory response that leads to destruction of the villi. The villi are crucial for nutrient absorption, and their atrophy causes systemic malabsorption and further complications⁷.

Systemic involvement and complications

Celiac disease is primarily a disorder of the small intestine, but the consequences are systemic. When nutrient absorption is impaired, the entire body can be affected.

Common systemic symptoms:

• Diarrhea (both acute and chronic)

• Steatorrhea (fat in stool)

• Abdominal distension and cramping

• Nausea and dyspepsia

• Nocturia (frequent urination at night)⁷

Cardiovascular and hematological effects:

• Hypotension (low blood pressure) and dizziness

• Anemia (iron deficiency or vitamin B12 deficiency)

• Fatigue – both central and peripheral

• In some cases, hypertension has been reported¹³

Neurological and dermatological manifestations:

• Reduced cognitive function and concentration difficulties

• Polyneuropathy

• Dermatitis herpetiformis, often located on buttocks, elbows, and knees⁷

• Psoriasis and vasculitis as possible secondary responses

Other systemic complications:

• Dilated cardiomyopathy

• Osteoporosis/osteopenia

• Immunodeficiency and hormonal imbalances⁷

Management and follow-up

Diet: Lifelong gluten-free diet is the cornerstone of treatment. This must be closely monitored by a physician and clinical dietitian with expertise in celiac disease²⁸¹². The diet must be complete, consistent, and free from cross-contamination.

Nutritional supplements: It is common to supplement with iron, calcium, vitamin D, folate, and in some cases B12, depending on individual deficiencies.

Pharmacological support: In cases of severe inflammation, corticosteroids may be considered temporarily to suppress the immune response².

The role of physiotherapy in management

Physiotherapy is not part of the core treatment, but plays an important role in managing complications. Many patients experience reduced physical function, and physiotherapists can provide targeted interventions.

Relevant interventions include:

• Management of joint pain, edema, and muscle atrophy

• Weight-bearing exercises for low bone density and osteoporosis¹⁴

• Training for strength, balance, and general endurance

• Neuromuscular stimulation for peripheral neuropathy

• Energy conservation and activity planning strategies

• Counseling on physical activity and rest

• Patient education on lifestyle, nutrition, and available resources

Physiotherapists can also contribute within a multidisciplinary team, especially in cases of long-term disease, complex symptoms, or limited rehabilitation outcomes.

Differential diagnoses

Celiac disease may be mistaken for other gastrointestinal disorders. Important differential diagnoses include⁴:

• Bacterial or viral gastroenteritis

• Crohn’s disease

• Irritable bowel syndrome (IBS)

• Giardiasis (parasitic infection)

• Other forms of malabsorption

References

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2. Ruiz AR Jr. Celiac Sprue. Merck Manual for Healthcare Professionals. Available from: http://www.merck.com/mmpe/sec02/ch017/ch017d.html?qt=celiac%20disease&alt=sh (accessed 05.07.2025).

3. Radiopaedia. Celiac Disease. Available from: https://radiopaedia.org/articles/coeliac-disease-1 (accessed 05.07.2025).

4. Posner EB, Haseeb M. Celiac disease. StatPearls [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK441900/ (accessed 05.07.2025).

5. Makharia GK, Chauhan A, Singh P, Ahuja V. Epidemiology of coeliac disease. Aliment Pharmacol Ther. 2022;56(Suppl. 1):3–17.

6. Mayo Clinic. Celiac Disease. Available from: http://www.mayoclinic.com/health/celiac-disease/DS00319 (accessed 05.07.2025).

7. Goodman CC, Fuller KS. Pathology: Implications for the Physical Therapist. 3rd ed. St. Louis: Saunders Elsevier; 2009. p. 848–851.

8. Fasano A, Catassi C. Current Approaches to Diagnosis and Treatment of Celiac Disease: An Evolving Spectrum. Gastroenterology. 2001;120:636–651. Available from: http://medschool.umaryland.edu/celiac/documents/celiacgastro.pdf (accessed 05.07.2025).

9. Makharia GK. Current and emerging therapy for celiac disease. Front Med (Lausanne). 2014 Mar 24;1:6. doi:10.3389/fmed.2014.00006. PMID: 25705619; PMCID: PMC4335393.

10. Coeliac Disease Diagnosis. Available from: https://www.coeliac.org.au/s/coeliac-disease/diagnosis (accessed 05.07.2025).

11. Johnson LE. Vitamin B12. Merck Manual for Healthcare Professionals. Available from: http://www.merck.com/mmpe/sec01/ch004/ch004i.html#sec01-ch004-ch004j-395 (accessed 05.07.2025).

12. Rubin JE, Crowe SE. Celiac Disease. Ann Intern Med. 2020 Jan 7;172(1):ITC1–ITC16. doi:10.7326/AITC202001070. PMID: 31905394; PMCID: PMC7707153.

13. Zamani F, et al. Celiac disease as a potential cause of idiopathic portal hypertension: a case report. J Med Case Rep. 2009;3:68. Available from: http://jmedicalcasereports.com/content/3/1/68 (accessed 05.07.2025).

14. Fuchs V, Kurppa K, Huhtala H, Collin P, Mäki M, Kaukinen K. Factors associated with long diagnostic delay in celiac disease. Scand J Gastroenterol. 2014;1–7.