Information

Celiac disease or gluten-sensitive enteropathy is an intestinal disorder directly related to an immune response to dietary gluten occurring in genetically predisposed subjects. Ingestion of gluten induces the immunological inflammation leading to villous atrophy in small intestine. This is indicated by flat mucosa in the biopsy specimen. At the same time as the antibodies to gluten and its component gliadin are formed, also autoantibodies are found. In the confirmatory diagnosis of celiac disease an intestinal biopsy is mandatory, but serological tests are useful tool to make an initial diagnosis and to monitor therapy.

The autoantibodies are produced against endomysium, which is a component of a smooth muscle connective tissue. The major autoantigen of anti-endomysium antibodies is tissue transglutaminase (tTG). Biochemically purified guinea pig tTG is normally used as the antigen in ELISA tests. Because IgA deficiency is more common in celiac disease patients than general population, IgG class antibodies to gliadin, endomysium and/or tissue transglutaminase are measured in IgA deficiency patients.

The prevalence of celiac disease is reported to be averagely 3-5/1000 in Europe and, according to latest results, the prevalence is very similar in the Unites States. In children, even a prevalence of 1.3 % has been reported.

Gastrointestinal Symptoms

Chronic diarrhoea
Malabsorption
Fatty diarrhoea (Steatorrhoea)
Non-gastrointestinal Symptoms
Dermatitis herpetiformis
Dementia
Depression
Osteoporosis
Dental enamel defects
Anemia
Osteomalacia
Infertility
Risk for intestinal lymphoma

High Risk Groups

Relatives of patients with celiac disease
Patients with type 1 (juvenile) diabetes mellitus
Patients with other autoimmune diseases, e.g. Sjögren syndrome and rheumatoid arthritis
Patients with IgA immunodeficiency

Diagnosis

Screening with serological tests
Anti-gliadin antibodies and at least one of the following:
Anti-reticulin
Anti-endomysium
Anti-tTG IgA antibodies
Confirmation with jejunal biopsy

Treatment

Gluten-free diet
Control of treatment with biopsy and serological assays

References

Marsh M. Gluten, major histocompatibility complex and the small intestine. A molecular approach to the spectrum of gluten sensitivity (“celiac sprue”). Gastroenterology, 1992; 102: 330-354.
Dietrich W, Ehnis T, Bauer M, Donner P, Volta U, Riecken EO, Schuppan D. Identification of tissue transglutaminase as the autoantigen of celiac disease. Nat Med 1997; 3: 797-801.
Eliakim R, Sherer DM. Celiac disease: fertility and pregnancy. Gynecol Obstet Invest 2001; 51: 3-7.
Collin P, Reunala T, Rasmussen M, Kyrönpalo S, Pehkonen E, Laippala P, Mäki M. High incidence and prevalence of adult coeliac disease. Augmented diagnostic approach. Scand J Gastroeneterol, 1997; 332: 1129-33.
Not T, Horvath K, Hill ID, Partanen J, Hammed A, Magazzu G, Fasano A. Celiac disease risk in the USA: high prevalence of antiendomyosium antibodies in healthy blood donors. Scand J Gastroenterol, 1998; 33: 494-8.
Carlsson AK, Axelsson IE, Borulf SK, Bredberg AC, Ivarsson SA. Serological screening for celiac disease in healthy 2.5-year-old children in Sweden. Pediatrics, 2001; 107: 42-5.

Diagnosis

Diagnosis of Celiac Disease
Until recently one of the only ways to diagnose the celiac disease was to undertake a jejunal biopsy to observe the morphology of the intestinal wall and to place the subject on a gluten free diet to assess whether the symptoms abate.

However, as the disorder is considered to be an autoimmune disease, a series of assays has been developed to quantitate the levels of certain antibodies which will reflect the immunological state of the subject.