Celiac disease (or gluten intolerance) is a genetic condition that affects at least 1 in 133 Americans.
The symptoms of celiac disease can range from classic symptoms such as diarrhea, weight loss and malnutrition to isolated nutritional deficiencies but without gastrointestinal symptoms.
In celiac disease, an immune response occurs in the small intestine when gluten is consumed.
Over time, this reaction leads to inflammation, which damages the inner wall of the small intestine and prevents the absorption of some nutrients (malassimilation).
If the immune system reacts abnormally to the glutens in the food, the immune response damages the villi (Villi intestinales), which resemble small hairs and line the small intestine.
The Villi absorb vitamins, minerals and other nutrients from the food they eat. Normally, the villi are reminiscent of a microscopic brush. The damage caused by celiac disease changes the surface inside the small intestine, which eventually resembles a smooth tile floor.
As a consequence, the body loses the ability to absorb nutritious substances necessary for growth and good health.
Who suffers from celiac disease?
One must be born with a predisposition to celiac disease. The main genes associated with gluten intolerance are HLA DQ2 and HLA DQ8.
One or both of these genes are present in almost every person with celiac disease. While 30% of the population has one or both of these genes, 3% of them develop gluten intolerance.
A first-degree relative (parents, siblings, child) of a person with celiac disease has a 10% chance of also developing the disease.
If one identical twin has celiac disease, there is a 70% chance that the other twin will also have this intolerance (but it does not need to be diagnosed at the same time).
Environmental factors play an important role in the onset of celiac disease in childhood or later in life.
Causes and risk factors
Celiac disease can affect anyone. However, the tendency is more often to people with:
•a family member with celiac disease or herpetiform dermatitis, •type 1 diabetes, •Down or Turner syndrome, •autoimmune thyroid disease, •Sjögren’s syndrome,
•microscopic colitis (collagen or lymphocytic colitis).
Symptoms of celiac disease
The symptoms of celiac disease can be mild or severe.
Possible symptoms in adults:
- poor digestion
- Stomach ache
- occasional changes in bowel movements, you may have diarrhea or constipation (constipation),
- Anemia (tiredness)
- Loss of appetite
- Weight loss
- Tingling and numbness of hands and feet (peripheral neuropathy)
- Vomiting (usually occurs in children)
- Joint pain – arthritis
- Diseases of the liver and bile ducts (fatty liver, primary sclerosing cholangitis, etc.)
- Anxiety and depression
- irregular menstrual cycle
- Aphthae in the mouth
The symptoms often appear intermittently (they pass and come back), sometimes they appear regardless of diet and regardless of the symptoms of the digestive system.
Milder cases of celiac disease can be asymptomatic, so the intolerance is often discovered only by examining another disease.
However, treatment is advisable due to the complications that may occur in these cases.
Severe celiac disease
Symptoms of serious celiac disease include:
•diarrhoea, which may occur suddenly during the night, resulting in faecal incontinence (loss of bowel control),
•weight loss, •stomach cramps,
In some cases, headaches or chronic migraines.
The stool may contain excessive amounts of fat (steatorrhea), which keeps it soft, it is light in color and strongly foul-smelling.
It can be difficult to remove the stool in the toilet.
If gluten intolerance is not treated, the result is that the food cannot be digested in a normal way and malabsorption can occur.
This leads to fatigue and lack of energy.
Malnutrition in children can slow growth in terms of weight and height and delay puberty.
Symptoms of celiac disease in children
Celiac disease is often diagnosed in children who produce large amounts of foul-smelling diarrhea and have a bloated and aching abdomen.
These children often appear malnourished (some are); even though they are usually very lean, their stomach protrudes clearly due to the bloating.
Instead of diarrhea, children can also suffer from constipation that stems from celiac disease. Constipation due to gluten intolerance occurs with abdominal swelling and pain, some children may have alternating diarrhea and constipation.
Another “typical” symptom of celiac disease in children is growth retardation. These children are delayed in their growth and, in fact, the increase in weight and height is significantly less than in children of the same age.
If no diagnosis is made here, the children may also have a small body size in adulthood due to gluten intolerance.
However, children with celiac disease are not always underweight.
A recent study shows that about one child in five was overweight when the diagnosis was made, while 75% were of normal weight.
Most children who were too heavy lost weight after starting a gluten-free diet.
Most children with typical celiac symptoms are more likely to arrive at the diagnosis than children with less typical symptoms. Probably because doctors are much easier to recognize the possibility of celiac disease.
They also have greater intestinal damage related to celiac disease than children with atypical symptoms.
Atypical symptoms in children include anemia, irritability, and attention deficit hyperactivity disorder (ADHD).
A discrete minority of children (about 30%) have iron deficiency anaemia as the first sign of celiac disease.
This anemia can affect children and adults with celiac disease because they cannot absorb the iron from the food they ingest.
In most cases, the problem is solved relatively quickly if the diagnosis of gluten intolerance is made and a gluten-free diet is adhered to.
Many undiagnosed celiac children are constantly irritable, although the cause of this is unclear.
It’s possible that they’re simply feeling unwell, or there may be a link between vitamin deficiencies, essential fatty acid deficiencies, and vitamin B12, which could affect mood and nerve function.
Finally, the diagnosis of attention deficit disorder of the child should make one remember that an examination for gluten intolerance is carried out.
Over 15% of individuals with ADHD may have celiac disease, but starting a gluten-free diet seems to quickly relieve symptoms of ADHD.
What is latent and silent celiac disease?
Latent or silent terms are terms for people who have inherited genes that promote celiac disease but have not developed symptoms or signs of gluten intolerance.
Latent celiac disease refers in particular to people with abnormal antibodies in the blood tests for celiac disease, where the small intestine has normal wall structures and the patient shows no signs or symptoms of celiac disease.
Some people may have suffered from gluten intolerance in their childhood and the condition could be treated with a gluten-free diet.
The patient’s intestine may later return to normal appearance and functioning, and it is possible that there are no signs or symptoms of celiac disease.
Some people with celiac disease during childhood give up a gluten-free diet in adulthood without showing signs or symptoms of intolerance.
In both cases described above, celiac disease is latent and these people may develop signs and symptoms later in life.
Silent celiac disease refers to people who have abnormal antibodies of celiac disease in the blood tests and have lost the villi in the small intestine, but still have no symptoms or signs of celiac disease, even on a gluten-containing diet.
Like individuals who have latent gluten intolerance, these people may develop the signs and symptoms later in life.
Untreated celiac disease can have consequences:
Malnutrition. The consequence of small intestine damage is the inability to absorb sufficient nutrients.
Malnutrition can lead to anemia and weight loss.
In children, malnutrition can lead to growth and developmental retardation.
Loss of bone density. Malabsorption of calcium and vitamin D can lead to decreased bone density (osteomalacia or rickets) in children and osteoporosis in adults.
Infertility and miscarriage. Malabsorption of calcium and vitamin D can promote reproductive problems.
Lactose intolerance. The small intestine damage can cause abdominal pain and diarrhea after eating lactose-containing foods, even if they do not contain gluten. If the intestine is healed, it may be able to tolerate dairy products again. However, some people continue to suffer from lactose intolerance even if they manage to manage their celiac disease well.
Cancer. Celiacs who do not follow a gluten-free diet have an increased risk of developing various types of cancer, including intestinal lymphoma and small bowel cancer.
When nutritional therapy does not respond
Over 15 percent of people with celiac disease are unable to follow a proper gluten-free diet.
This condition, known as malabsorption syndrome, often occurs after impurposing the diet with gluten.
A Mayo Clinic study found that people with this syndrome often have other diseases, such as bacterial contamination of the small intestine, colitis, pancreatic malfunction, or irritable bowel syndrome.
Refractory celiac disease
In rare cases, small intestinal lesions continue to progress, even if a gluten-free diet is rigorously followed. This disorder is known as refractory celiac disease.
If signs and symptoms also progress on a gluten-free diet for six months or a year, the doctor may recommend further tests to control the intolerance and look for other explanations for the symptoms.
The doctor may recommend treatment with corticosteroids to reduce intestinal inflammation or recommend a medication to suppress the immune system.
How is celiac disease diagnosed?
Recognizing celiac disease can be difficult because some symptoms are similar to those of other conditions. Gluten intolerance can be confused with irritable bowel syndrome, colitis, diverticulitis, intestinal infections, chronic fatigue syndrome and iron deficiency anemia caused by menstrual bleeding.
Therefore, celiac disease is often poorly diagnosed. As doctors have become more aware of the symptoms of the condition and more reliable blood tests have been introduced, the number of diagnosed cases has increased.
People with celiac disease have a higher concentration of certain antibodies than normal in their blood. These are proteins that react against the body’s cells or tissues.
To diagnose celiac disease, doctors order blood tests via anti-tissue transglutaminase antibodies (tTG) or anti-endomysium (EMA).
If the results of these tests are negative, but the disease is still suspected, further blood tests can be done.
In the first phase of testing, the patient should continue to follow a gluten-containing diet with foods such as bread and pasta.
If a person stops eating gluten-containing foods before taking the blood tests, the results regarding celiac disease may be negative, even if the condition is present.
Intestinal biopsy If the blood tests and symptoms suggest celiac disease, a biopsy is taken from the small intestine to confirm the diagnosis.
During the biopsy, the doctor takes small pieces of tissue from the small intestine to examine them for the presence of villi.
To take a tissue sample, the doctor inserts a long, thin tube, a so-called endoscope, through the patient’s mouth and stomach into the small intestine. The doctor can take the samples using devices that are handled via the endoscope.
Dermatitis herpetiformis (DH) is a blistering rash that causes severe itching and affects 15-25 percent of individuals with celiac disease. The rash occurs mainly on the elbows, knees and buttocks.
Most people with DH do not have any digestive symptoms of celiac disease.
Herpetiform dermatitis is diagnosed by a blood test and skin biopsy.
If the antibody test is positive and the skin biopsy shows typical results of herpetiform dermatitis, it is not necessary to perform a small intestine biopsy on the patient. Both skin disease and bowel disease respond to a gluten-free diet and recur when the food contains gluten.
The rashes can be controlled by antibiotics such as dapsone. Since dapsone does not treat bowel disease, people with herpetiform dermatitis must follow a gluten-free diet.
Celiac disease screening tests for the presence of autoantibodies in the blood in people who have no symptoms. Americans are not usually tested for celiac disease. Nevertheless, a relative of a person with celiac disease might ask to have the examination done, since the celiac disease is genetic. Four to twelve percent of patients who are first-degree related to a person suffering from celiac disease have celiac disease themselves.
Should children take a test?
Like adults, children can develop gluten intolerance at any time and should therefore be tested as soon as symptoms become apparent, even if these symptoms are mild and atypical.
In addition, children whose close relatives have celiac disease should have examinations, even if they have no symptom.
It happens sufficiently often that “silent” or asymptomatic celiac disease is found in relatives of celiac patients.
These people should also follow a gluten-free diet to avoid future complications of the condition.
The diagnosis of celiac disease is made by a series of blood tests in search of specific antibodies.
If these are positive or indicate gluten intolerance, the next step is an endoscopy to see if the intestine is damaged.
If the child is diagnosed with celiac disease, the only therapy is a gluten-free diet.
The good news is that after diagnosis, the child can grow more vigorously and problems regarding attention and irritability may also be resolved quickly.
Many parents see that after diagnosis, the child is much happier, has more energy, and eventually gets better at school after starting the diet.