Coeliac disease: symptoms, diagnosis, treatment
Coeliac disease is a disease that renders the intestine unable to absorb nutrients and depends on a malabsorption problem caused by the inability to digest foods containing gliadin and gluten
Coeliac disease, an ancient and emerging disease
Once upon a time, until not so many years ago, the so-called Coeliac Disease (or Coeliac Disorder) was a condition limited almost exclusively to the paediatric setting.
The so-called ‘gluten enteropathy’ of years ago was classified as ‘childhood celiac disease’.
Celiac disease was mentioned in treatises on medical pathology as a malabsorption syndrome or, in haematology, as a megaloblastic macrocytic anaemia, but also as an iron deficiency anaemia, and it mainly affected children; in adults, as an uncommon disease at the time, it was more accurately referred to as ‘non-tropic sprue’ or ‘idiopathic steatorrhea’.
What was known about coeliac disease was that it mainly affected children
The child suffering from coeliac disease presented symptoms such as pallor, anaemia, frequent belly pains, diarrhoea, eating poorly, lack of appetite, asthenia, and was unable to grow like his peers, i.e. he had growth retardation and many other health and developmental problems.
The paediatrician then discovered that he was suffering from a malabsorption problem, caused by an inability to digest foods containing gliadin and gluten, components of wheat, the ingestion of which was gradually causing serious damage to the intestine and its ability to absorb food substances and principles.
The first to discover the cause and propose the reduction of wheat intake was the Dutch paediatrician Dicke in 1940.
The cure in fact consisted, it was later discovered, in abstaining from all foods containing gluten.
With this measure, the child gradually corrected malabsorption and serious nutritional deficiencies and resumed normal bodily development, so that a state of psycho-physical well-being could be achieved and maintained after strict adherence to the gluten-free diet.
From that time to the present, things have changed a great deal.
Coeliac disease has become a widespread illness, and not only in the paediatric population.
Knowledge about the disease has increased enormously and considerable progress has been made, much of which is still being made, with regard to diagnostic possibilities.
Symptoms of coeliac disease
What was once Celiac Disease is now the classic and overt form of celiac disease, but not the most frequent.
Its manifestations are so obvious that it is easier to detect and diagnose.
The subject presents chronic diarrhoea, asthenia, malabsorption, abdominal pains, steatorrhoea, slimming and hypo-accretion, macrocytic and/or sideropenic anaemia, hypovitaminosis, rickets, osteoporosis, coagulative disorders, nutritional deficits and deficiencies in calcium, vitamin D, vitamin K, hypokalaemia and hyposodidaemia, dehydration, etc.
It is a chronic autoimmune disease due to intolerance to gluten, a wheat protein that, when taken in the diet, causes a phlogistic reaction in the sufferer for whom gluten is toxic, with chronic inflammation of the mucous membrane of the small intestine and gradually to lesions and microstructural infiltrates in the mucous membrane up to atrophy of the intestinal villi.
Gluten (and gliadin, which is a component of it) is normally present in many foods that are widely consumed by us, including bread, pasta, wheat, most cereals, flour, rye, oats, barley, spelt, pizza, biscuits, many sweets, bran, crackers, breadsticks, potato dumplings, focaccia, etc. Rice and maize, on the other hand, do not contain gluten.
The different types of coeliac disease
There are various other forms of coeliac disease today. The most frequent form today is the so-called non-classical or atypical coeliac disease; it is the sometimes most insidious, misunderstood and difficult to detect form of the disease, which can affect all ages, even and especially adults, and can appear and/or be discovered even at an advanced age.
It often presents itself with generic and undefined symptoms, vague abdominal pain, flatulence, irregularity of bowel movements, so much so that it is catalogued as irritable bowel syndrome.
Sometimes, however, it gives some indirect sign of itself, such as an unexplained and persistent iron deficiency, or a movement of transaminases in the absence of definite and primitive liver disease.
Sometimes, finally, it is suggested by other signs that seem to be located outside the digestive system, such as an unexplained peripheral neuropathy, or a history of miscarriages, or the presence of various autoimmune-based diseases.
In short, the presentations of coeliac disease today are often varied and the diagnostic research paths that eventually lead to its identification are sometimes complicated.
Treatment, as mentioned above, consists not only in correcting the various nutritional deficiencies, but also in absolutely abstaining from gluten in the diet
This measure is decisive for the disease situation.
But it is often difficult to recognise and avoid the presence of gluten in commercial foodstuffs, and even in the composition of many medicines.
Useful therefore is, in some cases, not only the gastroenterologist, but also the figure of the nutritionist, who can undoubtedly constitute a valuable aid for the coeliac and for the doctor himself in orienting himself more specifically in the direction of a correct and complete diet, which serves not only to avoid gluten, but also to respect the correct proportions and the right contributions of nutrients and nutrient principles in the meal.
We also know that celiac disease is frequently associated with a number of distinct and different morbid conditions, such as type 1 diabetes, Hashimoto’s thyroiditis, Down’s syndrome, Turner’s syndrome, sterility, osteopenia or osteoporosis, dyskeratosis or persistent perioral ulcers.
In these conditions, the likelihood of being affected by coeliac disease is double that of the general population
Another form is represented by asymptomatic or ‘silent’ coeliac disease (a condition that is just as misunderstood and easily escapes diagnosis), in which no obvious symptoms appear and whose diagnosis can only be made on the basis of positive laboratory data and histological examination of the intestine.
Yet another form is represented by that nosological entity that goes by the name of Durhing’s herpetic dermatitis, which manifests itself with characteristic erythematous and crusty skin lesions that bring to mind the common and better known herpes.
Latent celiac disease
Also worth mentioning is the form of coeliac disease called ‘latent’ or potential coeliac disease.
This is coeliac disease that has not yet manifested itself in individuals who, however, have a clear family history of the disease and whose genetic research (HLA-DQ2/DQ8) shows that they are clearly predisposed to it.
He or she may also never become ill, just as he or she may over time present with some or all of the characteristics described in this article, and therefore deserves careful and correct vigilance on the part of the doctor and gastroenterologist specialist.
Refractory coeliac disease
Finally, there is the difficult form of coeliac disease called refractory coeliac disease, which appears to be resistant, refractory in fact, to gluten-free dietary treatment and which continues to present clinical manifestations and positive laboratory tests.
This coeliac disease is the most difficult form to treat and is most prone to severe complications, including Lymphoma and Ulcerative Digiuno-Ileitis.
Diagnosis
The diagnosis of coeliac disease is suspected clinically, by the doctor who correctly interprets the variety and course of the disorders presented and who does not settle for diagnostic hypotheses that may even have been made several times by various health professionals on the same subject, such as, for example, the generic trivial improperly called ‘colitis’ or colon or irritable bowel syndrome.
This suspicion then leads to the prescription of a number of laboratory investigations, including, in the first instance, serum total IgA immunoglobulin and IgA- tTGA (anti-tissue transglutaminase) antibodies, which may be negative, positive or uncertain.
Depending on the case, it will be necessary to continue investigations with anti-endomysium antibodies (IgA and IgG EMA), IgG-tTGA, anti-gliadin IgA and IgG antibodies (better still the more recent anti-gliadin deamidated protein antibodies or DPG -AGA).
But the real and decisive test that diagnoses coeliac disease, and the degree of its severity, will ultimately be the histological examination of the mucous membrane of the small intestine on samples collected by means of the necessary multiple biopsies performed during the indispensable and accurate endoscopic investigation (bulb and distal duodenum).
But it must be said that the aforementioned examinations may be falsely negative or insignificant due to the aglutinated or very poorly gluten-free diet regimen preceding the investigations.
Finally, it must be said that often associated with coeliac disease, precisely because of the partial or total atrophy of the enteric mucosa, are forms of malabsorption to certain sugars, and therefore intolerance, such as to lactose, xylose, and sorbitol.
Such intolerances therefore sometimes coexist with coeliac disease.
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