Celiac disease: symptoms, causes and diagnosis

Celiac disease is a disease of genetic origin and of an inflammatory nature mainly characterized by the destruction of the mucosa (superficial part of the small intestine) triggered by the ingestion of gluten in genetically predisposed subjects.

It is an immune reaction to gluten; which are proteins we find in some cereals, such as:

  • Wheat;
  • Barley;
  • Spelled;
  • Rye;
  • The kamut.

The foods that contain these cereals are numerous and are extremely widespread on Italian tables: bread, pizza, pasta and biscuits. PROLAMINE is responsible for the toxic effect for celiac, which is one of the protein fractions that constitute gluten.


A very variable clinical picture characterizes the symptoms of celiac disease, which are:

  • Swelling, abdominal pain and diarrhea: are the most common intestinal symptoms;
  • Chronic fatigue: it is a constant feeling of weakness and lack of energy;
  • Hypo nutrition and weight loss: celiac disease hinders the absorption of important nutrients that the body gets from food;
  • Anemia: celiac disease can also lead to a decrease in hemoglobin in the blood;
  • Herpetiformis dermatitis: it is a cutaneous variant of celiac disease, the so-called “Celiac disease of the skin”;
  • Furthermore, celiac disease can start at any age, even in old age.


In people genetically predisposed to celiac disease, the cells of the immune system triggered by contact with gluten, attack the mucosa of the small intestine destroying the villi (small finger-shaped bumps responsible for the absorption of various nutrients and minerals that through the wall of the small intestine end up in the blood) and determine, in the long run, malabsorption and malnutrition. The essential factors, therefore, for the development of celiac disease are:

  • The environmental factor: a diet with cereals containing gluten;
  • The genetic factor: presence of specific sequences (HLA-DQ2 and HLA-DQ8) in the genes that define the structure with which our immune cells recognize the different elements that meet them.

In the absence of these DNA sequences, the diagnosis is virtually excluded or highly unlikely. Since only 30% of the world population develops celiac disease with these sequences, other factors are also necessary; a role of too early gluten exposure or of a rotavirus intestinal infection in childhood has been hypothesized. On the contrary, according to the American National Institute of Diabetes, Digestive and Kidney Diseases, breastfeeding would seem to play a protective role or at least delay its appearance.


The diagnosis of celiac disease follows well-defined guidelines. In subjects at high risk of celiac disease due to family history, the appearance of symptoms attributable to it or the presence of a frequently associated disease, the first test performed, using a simple blood sample, is the dosage of the specific antibodies produced in the blood in response to the presence of gluten (anti-trans-glutamines and anti-endomysium antibodies). The test does not require special preparation rules. As with most blood tests, the patient must fast. Patients with the presence of these antibodies in the blood are subjected, to confirm the diagnosis, to the execution of the biopsy (a sample of a fragment of tissue) of the mucosa of the first part of the small intestine, the duodenum, in order to document a flattening (a disappearance) of the intestinal villi.  The biopsy is performed during an esophagus-gastro duodenoscopy.

Genetic analysis, carried out through DNA examination, reveals whether one is predisposed to the disease (the presence of the predisposing genes, HLA-DQ2 and HLA-DQ8 is sought). This test should not be performed routinely and should be reserved only for cases in which the antibody dosage and duodenal biopsy, as well as the symptoms, are not entirely clear. In the presence of the disease within a family, given its characteristic genetic transmission, it is advisable to screen antibodies in all first-degree relatives of the patient.

Celiac disease is included in the field of social diseases and chronic diseases and, as such, is subject to certification of illness to be carried out at the Reference Centers and Regional Network Presidia (exemption RI0060).


The only therapy currently available for people with celiac disease is the complete and lasting exclusion from the diet of all possible sources of gluten, even those that are hidden (gluten can be present in canned foods, sauces and packaged soups, but also in cosmetics and medicines, as an additive, preservative or flavoring).