Celiac disease: diagnosis rare, but not disease

It was believed to be a rare disease. Instead, the more time passes, the more doctors realize that celiac disease affects a far from negligible number of people.

The population of celiacs is not only formed by people who complain of typical intestinal symptoms since childhood.

These represent, in fact, only the tip of the iceberg of the real number of affections, which in fact also includes many individuals who begin to suffer only in adulthood of more nuanced and variable illnesses in type and intensity, affecting different organs and systems or that, even, are apparently very well.

Esophagus-gastro-duodenum-scopy (EGDS), better known simply as gastroscopy, has unintentionally contributed to redesigning the epidemiology of celiac disease in recent years, often carried out as part of investigations aimed at other purposes.

The investigation, however, allowed clinicians to identify by “direct vision” (later confirmed by biopsy) the unequivocal presence of an altered intestinal mucosa, with “flattened” duodenal villi and unable to ensure the correct absorption of nutrients introduced with food.

What does this new evidence imply in practice?

On the diagnosis front, there is some debate about whether to propose blood tests for the search for specific antibodies to the disease with screening programs extended to the whole population or, at least, to subgroups potentially at greater risk.

Starting from the first degree family members of a person already recognized as celiac disease.

This would allow to offer a much greater number of people with celiac disease the opportunity to appropriately modify their daily diet, eliminating gluten from the diet and thus avoiding not only more or less important illnesses immediately, but also the most serious complications that could arise at a distance, such as intestinal lymphomas and osteoporosis.

Am I celiac or not?

While waiting for health institutions to establish how to proceed officially, the probability of being able to detect the disease from the onset depends on the type and intensity of its manifestations and the sensitivity of the doctor who observes them.

Specific antibody tests, carried out after a simple blood draw, should always be performed in the presence of symptoms of malabsorption, such as unwanted or unjustified weight loss, nutritional deficiencies, anemia and fatigue.

Or in case of gastrointestinal dysfunctions, such as dyspepsia, digestive difficulties, loss of appetite, diarrhea.

In the child who eats in a sufficient and balanced way, to suspect the disease must be in the first place the stunted growth or not in line with the normal growth parameters, especially in the first years of life.

But different signs should not be overlooked, such as humoral instability, irritability and nervousness.

The EGDS represents, instead, the investigation considered as a “gold standard” for the precise characterization of the severity of the disease, and is the only adequate technique to confirm its presence in that small share of people who, although not presenting specific antibodies in the blood, remain strongly suspected of celiac disease.