Celiac Disease: Identification, Causes, Symptoms, Treatment

Celiac disease is a serious lifelong gastrointestinal disorder characterised by an inability to tolerate gliadin, i.e. a component of gluten.

Gluten is a protein found in the surface parts of cereal grains in wheat, spelt, barley, rye and oats.

Affected individuals cannot eat any foods containing gluten.

It is the most common autoimmune disease ever. Worldwide, it affects approximately one in 100 people.

Celiac disease is also called celiac sprue, nontropical sprue, endemic sprue, gluten enteropathy

How and why does it arise?

The disease develops as a result of the interplay of various environmental, genetic and immune factors.

It occurs in genetically predisposed individuals in whom gluten intake leads to damage of the cells of the small intestine (enterocytes) through an immune response.

Exposure to gluten leads to damage to the villi, the small finger-like protrusions of enterocytes that line the small intestine and promote nutrient absorption. Destruction of the absorptive surface of the intestine leads to maldigestion and malabsorption syndrome (inability to absorb nutrients).

Maldigestion, malabsorption syndrome = inability of the intestine to absorb nutrients. 

In addition to infections, especially intestinal infections, the risk of celiac disease is likely to be increased by a shorter duration of breastfeeding and the inclusion of gluten in the diet before the end of the 4th month or after the end of the 7th month of life.

People with a first-degree relative with celiac disease (parent, child, sibling) have a 1 in 10 risk of developing celiac disease.

The symptoms of celiac disease are...

The symptoms of the disease and the clinical picture of celiac disease are very varied. Therefore, the disease often remains undiagnosed even in developed countries.

Gastrointestinal manifestations = related to the digestive tract

The most common difficulties related to the digestive tract include:

• diarrhea – affects 45-85% of patients,
• rarely constipation
• bloating - 28 % of patients
• stomach rumble (bowel sound, bubble gut) - loud rumbling, growling or gurgling in the abdomen caused by bowel movements - 35 - 72% of patients
• weight loss - in 45 % of patients
  • in infants and young children with untreated coeliac disease: failure to thrive (insufficient weight gain) and stunted growth (reduced growth rate)
• weakness and fatigue - 78 - 80 % of patients
  • related to poor nutrition
• severe abdominal pain - 34 - 64% of patients

Extraintestinal manifestations = outside the digestive tract

Typical for the disease is that it also affects the human body outside the digestive tract.

Examples of extra-intestinal problems:

• anemia - 10-15% of patients
• osteopenia or osteoporosis (bone deterioration) - 1-34 % of patients
• neurological symptoms - 8-14 % of patients; such as
  • motor weakness,
  • paresthesias (tingling) with sensory deficit (loss of sensation),
  • ataxia (lack of muscle movement coordination),
  • sometimes seizures
• skin manifestations - 10-20 % of patients; such as
  • so-called dermatitis herpetiformis Duhring (Duhring's disease, i.e. autoimmune blistering skin condition),
  • symptoms such as itching,
  • skin rashes
    • on the outer surface of the limbs
    • on the chest,
    • on the buttocks,
    • on the top of the head
    • and the neck
• hormonal disorders, such as
  • amenorrhea (absence of a menstrual period),
  • delayed period,
  • infertility in women
  • and impotence and infertility in men
• bleeding manifestations – are caused by insufficient production of clotting factors due to vitamin K deficiency

Diagnosis in adults cannot be established without antibody testing and sampling of the small intestine during gastroscopic examination. It is important to note that the diagnosis is made in patients who do not follow a gluten-free diet. Once a gluten-free diet is in place, the examinations performed may be biased. 

Lab tests

• Antibodies – antigliadin antibodies, antibodies against tissue transglutaminase - the most specific, antibodies against endomysium
• Electrolytes – electrolyte imbalance as evidence of malnutrition
• Hematological (blood) tests – anaemia, reduced iron levels, bleeding disorders
• Stool examination – fat digestion disorder
• Oral tolerance tests – lactose intolerance

Endoscopy versus biopsy

An endoscopic examination of the upper digestive tract called gastroscopy is performed in all adult patients. During the examination, samples are taken from the small intestine where a pathologist examines histological changes in the wall of the small intestine.

There are 5 degrees of disability according to severity.

Imaging techniques

An X-ray performed after drinking barium sulfate suspension (a contrast agent) may be useful in untreated celiac disease. We may find enlargement of the small intestine. However, these examinations are not performed as a standard.

How can celiac disease become complicated and why is it serious?

Patients with celiac disease are at risk of several complications:

1. Non-responsive celiac disease (refractory sprue) – has similar symptoms to celiac disease, namely diarrhoea, abdominal pain, worsening malnutrition, but does not respond to a gluten-free diet.

This may hide patients who do not follow a gluten-free diet or violate it unknowingly (presence of gluten in gluten-free foods). In a narrower sense, celiac disease means celiac disease that has become tamed and has stopped responding to a gluten-free diet.

2. Inflammation of the small intestine with ulcers (ulcerative jejunoileitis) – is a rare disease of the small intestine in which we find ulcers in the small intestine in the terrain of celiac disease.

The result can be a narrowing of the intestine. 

3. malignant IgA lymphoma – occurs in untreated celiac disease with complete atrophy of the intestine (disappearance of the resorptive surface of the intestine). It may occur in long-standing celiac disease, but may also become the first manifestation of celiac disease.

Prevention of celiac disease

Breastfed babies should have gluten introduced after the sixth month, but no later than the seventh month.

Babies partially breastfed or not breastfed after the 4th month, but not later than the sixth month.

According to the 2008 recommendation by the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN), the specific month you introduce gluten is not the most important.

The protective effect of breast milk that should accompany the introduction of gluten is crucial. In fact, the recommendation states that the risk of developing coeliac disease is lower in children who are breastfed during (and after) the introduction of gluten.

Learn more: Celiac Disease: Causes, Symptoms, Treatment