Celiac disease comes with different signs and symptoms even before diagnosis. These signs and symptoms are diverse in variation and are quite not the same in adults and children. In adults, the most significant and common symptoms include diarrhea, loss of weight and constant fatigue. Other symptoms include constipation, pain in the abdomen, vomiting, gas and bloating, constipation and feeling nauseous. However, over 50 percent of adults who have celiac disease show signs and symptoms which are totally not related to the digestive system. That is, they don’t have issues with their digestive system but they have celiac disease. These sort of symptoms include:
- Iron deficiency, leading to Anaemia
- Spleen not functioning properly (Hyposplenism)
- Pain in the joint
- Fatigue and Headache
Dermatitis herpetiformis (Blistery and itchy skin rash): Dermatitis herpetiformis is caused by an intolerance to intestinal gluten. It is an itchy, blistering skin disease which looks like a rash and occurs around certain parts of the body like the scalp, elbows, buttocks, knees and torso. This disease is brought about when certain changes occur in the lining of the small intestine. Those changes are similar to those of celiac disease but it is quite possible that there won’t be obvious issues with the digestive system even though celiac disease is present.
Dermatitis herpetiformis is treated with a diet free of gluten or medication that does not contain gluten while in some cases, both, to keep the rash under control.
Damage to dental enamel
Injury to the nervous system which includes a tingling sensation in the hands and feet, balance problems and cognitive impairment.
Heartburn and acid reflux
In children, especially children below the age of two, most common signs and symptoms of celiac disease are:
- Loss of appetite
- Incessant vomiting
- Chronic diarrhoea
- Inability to thrive properly
- Swollen belly
- Muscle wasting
Children older than two years old may experience symptoms like:
- Loss of weight
- Short stature
- Not attaining puberty when due
These children also experience some neurological symptoms which include lack of coordination of the muscles, inability to learn, seizures, attention deficit or disorderliness of being overly active (ADHD), headaches.
When do you see the doctor?
It is not until one experiences severe symptoms before going to see a doctor. The moment you are feeling digestive discomfort that lasts for over two weeks, get up and go see a doctor. You should see a doctor if you have diarrhea. In children, take your child to see a doctor if he/she is pale, not growing, has a big stomach and bulky foul-smelling stools.
Often times, Celiac disease runs in families so if you discover someone has had the disease before in your family, consult your doctor if you should be tested.
Causes of Celiac Disease
Celiac disease does not have a known exact cause, but the development of celiac disease is associated with eaten gluten-filled foods, some environmental factors, and interactions between genes. Celiac disease is caused in infants by gastrointestinal infections, gut bacteria, and some wrong feeding practices. In some cases, for the first time, celiac disease rears its head after a viral infection, surgery, intense emotional stress, childbirth or pregnancy. In the small intestine, there are some linings – tiny, hair-like projections which are damaged by the reactions from the body’s immune system’s overreaction to gluten-filled food. These tiny, hair-like projections (villi) absorb nutrients from food eaten and if the villi are damaged, there is no way the body will be able to absorb enough nutrients.
The risk of getting the disease developed in the body is increased by some variations in the genes. Although the gene variations are not enough to bring about the disease, other factors also come into play. Worldwide, celiac disease is being diagnosed among different ethnic groups but it is most common among Caucasians and it is present in about 1 percent of the population in Western countries.
Factors that bring about risk
Nobody is immune to Celiac disease but then, it is more predominant in people with:
- At least one family member with dermatitis herpetiformis.
- Rheumatoid arthritis
- Microscopic Colitis
- Down Syndrome
- Addison’s disease
- Autoimmune thyroid disease
Effects of untreated Celiac disease
Malnutrition: With celiac disease comes the inability of the villi in the small intestines to absorb enough food nutrients the body needs. This can lead to anemia thereby causing weight loss. In children, the effects of this are slow growth and short stature.
Loss of calcium and reduction in bone density: With malnutrition comes to a deficiency in needed nutrients and malabsorption. When calcium and vitamin D are not properly absorbed, softening of the bones in children and reduction in the density of bones in adults are the results.
Reproductive issues: Improper absorption of vitamin D and calcium may lead to infertility and miscarriages.
Inability to take lactose: When the villi in the small intestine are damaged, it becomes difficult to eat lactose-containing foods (dairy foods). Incessant abdominal pains and diarrhea occur. In most cases, however, these foods don’t even have to contain gluten for the discomfort to take place.
Cancer: People who have celiac disease and keep eating foods containing gluten stand a high chance of developing some forms of cancer, for example, small bowel cancer and intestinal lymphoma.
Neurological issues: Some neurological problems may arise from having celiac disease. These problems disease of the nerves which affects the hands and feet, seizures etc.
In children, having celiac disease might cause a number of things which include, arthritis, inability to grow properly, loss of weight, epilepsy, defects in dental enamel, not attaining puberty at the right time and irritability.
Non-Responsive Celiac disease
Up to 30 percent of those living with celiac disease may find it difficult to maintain and keep to a diet that does not contain gluten. When this happens, it is known as non-responsive celiac disease. This is as a result of eating other things containing gluten other than eating gluten-free diets. It is, however, important to work with a dietician.
People who live like this will most likely experience other things, such as bacterial overgrowth, that is, bacteria in the small intestine, inability to tolerate lactose and fructose, poor functioning of the pancreas, microscopic colitis, or possibly have refractory celiac disease.
What is Refractory Celiac disease?
In some cases, which are very occasional cases, when celiac disease patients have an intestinal injury, the injury persists and brings about improper absorption of food. It doesn’t matter if the patient has followed a gluten-free diet. When this happens, it is called refractory celiac disease.
If symptoms, however, persist for up to six months or one year even after sticking to a gluten-free diet, the patient might have to undergo further testing so as to get further answers to the symptoms being exhibited. Such patient may have to get treatment with a steroid to keep at bay the inflammation of the intestine or a medication that keeps the activity of the immune system low. Essentially, all celiac disease patients should be watched and monitored for easy evaluation of response to treatment.
Treatment of Celiac disease
As a patient living with Celiac disease, you should stay away from foods containing gluten such as barley, wheat, oats and rye. Often times, with the exemption of diets containing gluten, symptoms of the disease usually disappear within a few days but in the majority of the cases, the Villi gets healed in a matter of six months.
There is a catch, however, starting a gluten-free diet means maintaining it for the rest of your life because switching back to diets containing gluten might bring back the problem. In some cases, however, the problem has gone beyond just not eating gluten. The intestines have gotten damaged beyond repair, therefore, they will receive nutritional supplements through an IV.
Living without eating gluten
Switching to eating foods without gluten will be a really huge change. You will have to be careful of what you take at any point in time or anywhere. A gluten-free diet means staples will be excluded from your meals. Examples of staples include; foods processed from grains, pasta, and cereals. You will also have to be careful of the kind of packaged foods you take because many of them usually contain gluten. To be on a safe side, always check the ingredients of any packaged food before eating. In restaurants, make inquiries of the ingredients of the food before ordering.
However, the fact that you have celiac disease does not stop you from eating a well-balanced diet. For example, you can have bread and pasta which are made from other types of flour such as rice, potato soy, or corn flour. In other instances, food companies and some grocery stores also sell gluten-free products and bread. You are not exempted from eating fresh products that have not undergone any sort of processing e.g. vegetables, fish, fruits and fish. These fresh products are perfect examples of gluten-free foods.
How is Celiac Disease Diagnosed?
There is a new blood test in the pipelines now which won’t be available until the next two to three years. This test will be a very accurate one even for people who have started living on a gluten-free diet even though they haven’t been diagnosed with the disease. Instead of focusing on antibodies, this test identifies T cells which are reactive to gluten.
At the moment, there are two major steps involved in the diagnosis of celiac disease which are:
- Testing the blood for gluten antibodies: this test is only effective and accurate when the patient is on a diet containing gluten, and it is an IgA based test.
- Doing a bowel biopsy to check out the extent to which the gut has been damaged. In cases where the patient is suspected to have dermatitis herpetiformis, skin biopsies will be taken.
Worthy of note, however, before a celiac disease patient will be asked to go on a gluten-free diet, diagnostic tests should be carried out so as to ensure a very accurate diagnosis. It is only after biopsy and a proper discussion with the doctor that the gluten-free diet will be implemented. The patient should also follow the instructions of the gastroenterologist on how much gluten can be consumed and for how long before the tests.
What are the things to look out for?
For Adults & Children:
- What symptoms are being shown physically and emotionally?
- For how long have the symptoms shown?
- How often are they?
- Is there a pattern to how they come up?
- How consistent are the symptoms throughout a day?
- When do the symptoms occur?
- For how long do the symptoms occur?
- Does any member of the family have any diseases they are autoimmune to?
- Are the symptoms being shown by the child within the normal range?
- Methods of examination
- Depending on the kinds of symptoms shown, the doctor will perform tests on the patients to check for;
- Low blood pressure (Hypotension)
- Pallor (as a result of anemia)
- Easy bruising caused by an absence of vitamin K
- Extreme loss of some sensations which include vibration light touch caused by a deficiency of vitamins.
- Edema caused by low protein levels in the blood.
- Gluten ataxia
- Protruding abdomen (Intestine dysmotility)
- Pain in the bone caused by Osteomalacia
- Dermatitis Herpetiformis
- Changes in the bone/skin and mucosa membrane caused by deficiency in certain vitamins
- A migraine and headache.
- Some signs of deficiency in certain vitamins/minerals which may include muscle spasms (magnesium and/or calcium deficiency), bone tenderness and bone pain (due to osteomalacia).
Serology (Blood) Tests
Presently, in the tests being carried out, there is no standardization. Several tests often called collectively, the Cascade or the Celiac Blood Panel will assist the doctor in making an accurate diagnosis. The tests include:
DGP (Deamidated gliadin peptide antibody) AGA (IgA anti-gliadin antibodies) Some people do not produce IgA antibodies. EMA (Immunoglobulin A anti-endomysium antibodies) tTGA (IgA anti-tissue transglutaminase) Deamidated gliadin peptide (DGP) antibodies tests came about in 2007 in combination with Tissue transglutaminase (TTG) antibodies. They are more accurate than native gliadin antibodies. Multiplex immunoassay (MIA) measures multiple antibodies while at the same time providing results within a short time at a lesser cost. Combination testing identifies patients who may likely need to undergo internal biopsy. Test panels include AGA to know if a patient’s body has all the needed IgA antibodies for the EMA and TTG results to be depended on. IgA deficiency poses no harm to the patient.
It is not sufficient to diagnose Celiac disease with only Gene tests. Gene tests are only sufficient in taking put the possibility of the celiac disease developing. About forty percent of United States residents stand a chance of developing celiac disease due to their genetic predisposition. However, just a tiny percentage, about 1% will actually have the disease.
In people who have celiac disease, Human Leukocyte (HLA) region DQ genes are highly present. However, to get accurate results in genetic tests for celiac disease, an analysis of how the DQA and DQB genes are configured is necessary. Besides the HLA, other genes have been identified and are still being identified. For family members of a celiac disease patient and young children with immature immune systems, genetic testing may be necessary.
In 2011, the first population study was carried out and results showed that it is ideal to use a combination of HLA-DQ serology and genetic tests to ascertain how prevalent celiac disease is. This test may be the ultimate end of the standard rules for carrying out a biopsy. The study also revealed that the cost of each diagnosis can be reduced by 50%. This process would be a cost effective and efficient method of diagnosis which is appropriate for the primary care setting.
The accuracy of the tests
In a situation where laboratory tests show possible malabsorption, a biopsy of the small intestine should be arranged to be performed by a gastroenterologist. During this test, a flexible, miniature biopsy instrument in taken through a tube, down the throat of the patient, into the stomach to the upper part of the small intestine where there is a gathering of multiple snippets of tissue. The samples come out with the tube and are then examined under a microscope to know if there is any form of damage.
There is a remarkable difference between the tissue of a normal small intestine and that of a celiac patient (either diagnosed or untreated). The villi which increase the absorptive surface area of the small intestine and are partially or totally flattened out in a person who has celiac disease. Also, enzymes that are located on the brush border are really reduced. Carbohydrates are broken down by the enzymes which the tips of the villi produce. Lactase is the enzyme responsible for the splitting the sugar in milk for easy absorption and is an example of a brush border enzymes. This decrease in lactase is the reason why celiac patients who haven’t been treated may be intolerant to milk products and will have permanent or temporary lactose intolerance.