Coeliac (Celiac) Disease

Coeliac (Celiac) Disease

What is celiac disease?

Coeliac disease (CD), or alternatively spelt, celiac, both of which are pronounced see-lee-ak”, is known as a gluten-sensitive enteropathy, enteropathy meaning that it is a disease or disorder of the intestine, particularly the smaller intestine. It can also be called sprue.

Basically, the condition refers to an immune reaction by the body when one eats gluten, which is a protein that is found in wheat, rye and barley. Therefore, if someone has celiac disease, then eating gluten will trigger an immune system response to components of gluten known as gliadins, in the small intestine and the body will, in turn, attack its own tissue rather than the ingested gluten directly. When this occurs on several occasions, this reaction will damage the lining of the small intestine and result in the intestine not being able to absorb some nutrients, this is known as malabsorption.

Malabsorption in children in affect their development and growth, this is seen in addition to the other symptoms that affect adults with this condition, the most common of these being fatigue, bloating, weight loss, anaemia and diarrhoea. The damage done to the intestinal tissue is what causes these symptoms which can result in a number of further complications.

It is important to note that every person suffering from this condition will experience celiac disease differently. The symptoms occur predominantly in one’s digestive system, however, they can also occur in different parts of the body.

Celiac disease does not have a cure, however, most people will benefit from following a gluten-free diet as this aids in managing symptoms and promotes the healing of the intestine that has previously been damaged by gluten. One patient may suffer from abdominal cramping and diarrhoea, whereas another may suffer from depression and irritability (this is most commonly seen in children). Some people may not have any symptoms.

The main cause of the disease, other than environmental influences, is genetics. Blood tests may be done to help one’s doctor in diagnosing the condition, as well as conducting a biopsy (tissue sample) of the small intestine. 

In the following article, we will explore the causes, symptoms, diagnosis, treatment and more of celiac disease. Be advised that this information should not be deemed as a substitute for a professional, medical opinion, but rather a guideline to help you to better understand the condition.

What causes celiac disease?

Celiac or coeliac disease is a disease that is known as an autoimmune condition. This means that the immune system, which is the body’s defence system against any potential infection, will mistakenly attack the healthy tissue. In the case of celiac disease, the immune system will mistake the substances that are found in gluten as a threat and therefore attack these substances.

Celiac disease is a result of the interaction between certain genes, eating gluten, as well as some environmental factors. However, the exact cause is still unknown. Some other factors that have been known to contribute to the disease are gastrointestinal infections, gut bacteria and certain practices surrounding infant feeding and the stage at which gluten is introduced to a baby’s diet.

In some cases, celiac disease can be triggered, meaning it will become active, after pregnancy, giving birth, surgery, a viral infection or when one has suffered from extreme emotional stress.

When gluten based foods are eaten by someone with celiac disease, their immune system will overact to the gliadins in gluten and this reaction then results in damage being done to the hair-like, tiny projections known as villi, which cover the lining of one’s small intestine. These villi are responsible for absorbing the minerals, nutrients and vitamins from food eaten. However, when these are damaged, they will not be able to function correctly, resulting in malabsorption (amongst a number of other symptoms) regardless of how much the patient eats.

Specific gene variations have been known to increase one’s risk of developing coeliac disease. However, just by having these variations in genes does not mean a person will necessarily get the condition, this, therefore, suggests that there are additional factors involved and that genes, although having a significant role to play, are not the only role players. People who have the condition have been noted to carry one or even both of the HLA-DQ8 and HLA-DQ2 genes, however, these genes are also carried by 25 to 30% of the population in general.

Celiac disease

What are the symptoms of coeliac disease?

The symptoms and signs of coeliac disease can often vary between each person and also differ between adults and children.

The signs seen in adults are commonly:

  • Weight loss
  • Diarrhoea
  • Fatigue

Other signs in adults can also include:

  • Bloating
  • Abdominal pain
  • Constipation
  • Nausea
  • Gas
  • Vomiting

Bear in mind that more than 50% of adults who have been diagnosed with celiac disease may show symptoms and signs that have no relation to one’s digestive system, these include:

  • Osteoporosis – This is a loss of the bone density or
    • Osteomalacia - This is the softening of the bone
  • Anaemia – This is normally the result of iron deficiency
  • Blistery and itchy skin rash – This is known as dermatitis herpetiformis
  • Damage to teeth enamel and teeth discolouration
  • Headaches
  • Mouth ulcers
  • Joint pain
  • Irregular menstrual cycles
  • Miscarriage and infertility
  • Injury to the nervous system – This includes tingling and numbness in the hands and feet and issues with balance, as well as cognitive impairment
  • Hyposplenism – This is known as a reduced splenic function, meaning that the spleen does not function at full capacity (the spleen acts as part of the immune system, filtering and recycling blood, regulating the number of blood cells as well as helping to fight infection).
  • Heartburn and acid reflux

The signs seen in children under two years of age commonly include:

  • Chronic diarrhoea
  • A swollen and bloated belly
  • Vomiting
  • Poor appetite
  • Muscle depletion

The signs seen in older children commonly include:

  • Constipation
  • Irritability
  • Diarrhoea
  • Weight loss
  • Delayed puberty (related to issues with growth and development due to not being able to properly digest the nutrients in food)
  • Short stature (again related to issues with growth and development in not being able to digest the nutrients in food)
  • Neurological issues such as learning disabilities, seizures, lack of coordination of muscles and ADHD (attention-deficit hyperactivity disorder)

Dermatitis herpetiformis

This is a blistering and itchy rash that is a skin disease stemming from gluten intolerance. This rash will typically occur on the knees, torso, elbows, buttocks and scalp. DH (dermatitis herpetiformis) is a commonly seen in those with coeliac disease. DH appears in the form of an itchy rash on the skin which is made up of blisters and bumps. It affects about 15 to 25% of those with celiac disease. People who suffer from DH will not normally have the other digestive symptoms and issues.

This rash is commonly associated with the changes of the small intestinal lining. The treatment for the rash is typically done through the patient following a strict gluten-free diet, along with medication to control the rash as it is accompanied by itchiness which can be bothersome.

Keep in mind that the symptoms tend to vary from one person to another and are dependent on a number of factors, including:

  • The age that someone started to eat gluten products
  • The amount of time that someone was breastfed as a baby
  • The severity of the damage of the intestinal lining
  • The amount of gluten products one eats

In some cases, the patient will not show any symptoms, yet they are able to still develop the long-term complications associated with the disease. We will discuss these in depth later on in the article.

When to see a doctor

An appointment with a doctor should be booked if the patient is experiencing any digestive pain or discomfort or diarrhoea that lasts for longer than 14 days. If a child is irritable, pale, has bulky and foul-smelling stools or is not growing accordingly, then phone a doctor.

Before attempting a gluten-free diet, it is best to consult with a doctor as there will need to be gluten in the patient’s diet before they are tested for coeliac disease. Following a gluten-free diet before being tested can alter the results.

If someone in the patient’s family suffers from the condition, then they should speak to a doctor about their risk factors and possibly be tested for the condition.  

Who is at risk for coeliac (celiac) disease?

Coeliac disease is known to run in families. The University of Chicago Medical Centre noted that if a person has someone in their family with the condition (particularly a sibling or parent) then the person has a one in 22 chance of developing the disease.

Those who suffer from another autoimmune disease, as well as a certain genetic disorder, may also be more likely to develop celiac disease. The conditions that are associated with celiac disease include:

  • Rheumatoid arthritis
  • Type 1 diabetes
  • Thyroid disease
  • Sjogren’s syndrome
  • Lactose intolerance
  • Down syndrome
  • Intestinal cancer
  • Autoimmune liver disease
  • Lupus
  • Addison’s disease
  • Intestinal lymphoma
  • Turner syndrome

What are the complications of coeliac disease?

If celiac disease is left untreated, it can result in:

  • Malnutrition – From the damage done to the small intestine, this results in the damaged villi not being able to absorb the nutrients needed for the body to function and grow properly.  This results in malnutrition which can lead to weight loss and anaemia. Malnutrition in children can affect their growth and development.
  • Infertility and miscarriage – Reproductive issues can stem from the malabsorption of nutrients as a woman’s body is not healthy enough to fall pregnant or keep a baby healthy and nurtured naturally until full term. This is due to the lack of iron, zinc, folic acid and selenium, which are all nutrients needed to maintain a healthy pregnancy. Sticking to a gluten-free diet will significantly reduce a woman’s risk of infertility and miscarriage.
  • Loss of bone density and calcium – These issues are also linked to the body not being able to absorb the nutrients needed. The malabsorption of vitamin D and calcium can result in the bones softening, which is also known as rickets or osteomalacia in children. In adults, the resulting loss of the bone density is known as osteoporosis.
  • Cancer – Those who have celiac disease and do not stick to a strict gluten-free diet, may have a higher risk of developing a number of different kinds of cancer due to their body being weakened and intestinal damage. Kinds of cancer in these cases can include small bowel cancer and intestinal lymphoma.
  • Lactose intolerance – Diarrhoea and abdominal pain are commonly experienced due to the small intestine being damaged. These symptoms tend to occur when a person who has celiac disease eats foods that contain lactose, namely dairy products. This is due to the fact that the small intestine is not healthy enough to process lactose. Once the small intestine has healed, the person may be able to have dairy products once again. It is sometimes the case, however, that some people will continue to suffer from lactose intolerance, regardless of their gluten-free diet.
  • Neurological issues – In some cases of coeliac disease, the patient may develop a neurological issue such as seizures or peripheral neuropathy, this is a nerve condition that affects the hands and feet.

Children who have celiac disease may also suffer from a failure to thrive physically, weight loss, teeth defects, arthritis, epilepsy, anaemia and delayed puberty.

Nonresponsive celiac disease (NRCD)

About 20 to 30% of those with coeliac disease are not able to reduce their symptoms by following a gluten-free diet. This is a condition referred to as nonresponsive coeliac disease (NRCD). Basically, this means that some people with this type of coeliac disease do not respond well to a gluten-free diet.

NRCD can be a serious condition and should not be taken lightly. The most common cause of this condition is when patients fail to follow a diet that is completely gluten-free due to their lack of knowledge or their lack of commitment to the diet. The first step in treating this condition is to see a dietician and have an accurate diet plan drawn up.

People who suffer from NRCD may also suffer from additional conditions such as bacterial overgrowth in the small intestine, poor pancreatic function, IBS (irritable bowel syndrome), microscopic colitis or other intolerances to lactose or fructose, or these patients may suffer from refractory celiac disease. Refractory celiac disease is a condition where the small intestine does not heal, despite following a strict gluten-free diet, we explain this more below.

Refractory celiac disease

In some very rare cases, the damage done to the small intestine will not heal and this may lead to a substantial amount of malabsorption of nutrients, despite sticking to a gluten-free eating plan.

Those who continue to experience the symptoms and signs of celiac disease after a period of six to 12 months may be advised to undergo additional testing. Their doctor could suggest that they follow a treatment plan that includes the administration of steroids to reduce the inflammation of the intestine or medication to suppress the immune system response.

How is coeliac disease diagnosed?

Petri dish for testing

Researchers have noted that the number of people being diagnosed with celiac disease is extremely low, with just 20% of those with the condition actually being diagnosed and treated.

Doctors will typically conduct two blood tests to aid in the accurate diagnosis of celiac disease. 

  • Serology testing – This identifies the antibodies present in the blood that are part of the immune system response to gluten. If these levels are elevated, it shows that the patient has an immune reaction to products containing gluten.
  • Genetic testing – This testing identifies the genes HLA-DQ2 and HLA-DQ8. HLA stands for human leukocyte antigens. If these genes are present then the patient may have a higher chance of having the condition.

If these test results indicate that coeliac disease is present, then the doctor may also conduct an endoscopy to take a look at the inside of the small intestine. This is an exam wherein a small viewing device is inserted through the patient’s mouth and into the intestine in order for the doctor to view the small intestine for damage and inflammation. A biopsy may also be done, this is a small tissue sample, to examine the villi for damage. A biopsy will confirm the diagnosis.

It is vital for coeliac disease to be tested for before one attempts a gluten-free diet as eliminating gluten entirely before the tests are done can alter the results, as the blood tests may come back normal due to the low presence of antibodies.

Biopsy

To give a little more information on a biopsy, it will be conducted in a hospital by a specialist known as a gastroenterologist. During the procedure, a flexible and thin tube known as an endoscope, with a light and a camera at the end of it, will be inserted into the patient’s mouth and will be gently pushed down to the small intestine.

The patient will be anaesthetised before the procedure. Once the endoscope has been inserted, a small biopsy tool will be inserted in through the endoscope to obtain a sample of the small intestine lining. This will then be examined under a microscope to detect celiac disease. 

Tests after diagnosis

If someone is then diagnosed with coeliac (celiac) disease after they have had the above tests done, then they may need to have additional tests in order to determine how the condition has affected their body thus far.

Additional blood tests may be conducted to check levels of minerals and vitamins in the blood. This helps in determining if the disease has led to the development of anaemia, which is a lack of iron in the blood due to poor digestion.   

If the patient suffers from dermatitis herpetiformis (this is an itchy and red rash that is caused by gluten), then their doctor may suggest that they have a skin biopsy (skin sample) conducted to confirm the diagnosis. This is done under a local anaesthetic as a small sample of the skin is taken from the area affected and examined under a microscope.

A type of X-ray known as a DEXA scan is also recommended for some people to measure their bone density. This is sometimes necessary if the doctor believes that damage has been done to the bones due to celiac disease (this test does not test for arthritis but rather damage to the bones).

How is celiac disease treated?

In order for celiac disease to be effectively treated, a strict gluten-free diet will need to be followed, this is a lifelong treatment method, there are no exceptions to this when someone has celiac disease. The following are all products that contain gluten:

  • Wheat
  • Barley
  • Durum
  • Bulgur
  • Graham flour
  • Malt
  • Rye
  • Farina
  • Spelt (this is another form of wheat)
  • Semolina
  • Triticale

The person affected may also be referred to a dietitian in order for a gluten-free eating plan to be designed for them. Coeliac disease and gluten-free diets are something that have only recently become more accommodated for. Many restaurants and grocery stores are now offering gluten-free alternatives and meals which is extremely beneficial for those suffering from the condition. These products are often more expensive than their gluten counterpart, however, it is vital for those affected to remember the importance of sticking to a gluten-free diet in order to prevent further complications as discussed earlier.

Once gluten is removed from one’s diet, the inflammation of the small intestine will start to lessen. This normally happens within a few weeks, although patients often report of symptoms subsiding after a few days. It may take a few months or years for complete regrowth and healing of the villi to occur. Children tend to heal quicker than adults.

If a sufferer accidentally eats a gluten product, then they may experience some diarrhoea and abdominal pain. However, some people with celiac disease do not suffer from any symptoms or signs if they eat gluten, but this does not mean that this is not harming their small intestine. Even very small amounts of gluten can be harmful, regardless of the signs and symptoms shown as a result.  

The following includes products that commonly contain hidden gluten:

  • Preservatives, food stabilisers, modified food starch
  • OTC (over-the-counter) and prescription medications
  • Mineral and vitamin supplements
  • Nutritional and herbal supplements
  • Stamp and envelope glue
  • Mouthwash and toothpaste
  • Play-Doh

Mineral and vitamin supplements

If a patient with coeliac disease suffers from severe nutritional deficiencies, then their dietitian or doctor may suggest that they take supplements which include:

  • Folate
  • Calcium
  • Vitamin B-12
  • Vitamin K
  • Folate
  • Vitamin D
  • Iron
  • Zinc

These are normally taken in the form of pills, or, if the patient’s digestive tract cannot absorb vitamins properly, then they may be administered intravenously (through an injection). The doctor will need to ensure that these supplements are gluten-free.

Follow-up care

If someone has coeliac disease, they will need follow-up care in order to ensure that their symptoms and signs are responding to the gluten-free diet. The doctor may also want to ensure that they are getting the provisions and support needed to maintain their diet for their specific lifestyles. Blood tests will be used to monitor their response.

The test results will typically be negative (they would have been positive when the patient was initially tested) once the patient has followed a gluten-free diet for six months to a year. If the results are still positive, then the doctor may investigate this further as there may be another reason such as unintentional gluten exposure within the patient’s diet.

It is important to note that these tests are not always accurate and in some cases where the results are negative, the patient may still be suffering from damage to their small intestine along with other symptoms.

Follow-up biopsies may need to be done in cases where the patient is still suffering from symptoms or to ensure that the intestine has started to heal. Children have less of a need for follow-up testing as they tend to heal a lot quicker than adults.

Some doctors may suggest that the patient has a routine biopsy if they have been diagnosed as adults in order to monitor the condition and healing of the intestine.

Medications to reduce and control intestinal inflammation

If the damage done to the small intestine is severe, then the doctor may suggest that the patient undergoes a treatment plan consisting of steroids in order to help reduce and control any inflammation. These are able to ease any severe symptoms associated with celiac disease and allow for the intestine to heal naturally.

Dermatitis herpetiformis

If the patient is suffering from dermatitis herpetiformis, this is an itchy and blistering rash that is a result of coeliac disease, then the doctor may suggest applying skin medication regularly. One type of skin treatment is known as dapsone. The patient will also need to follow a gluten-free eating plan.

Refractory celiac disease

If the patient suffers from refractory coeliac disease (just to recap, this is when the intestine does not heal), this often results in the symptoms lessening and then recurring later or ongoing, severe symptoms in general. Should this occur, then the patient is likely to be referred to a specialised centre for evaluation. There is no current treatment that has been proven to be effective for this condition as yet.

Those who suffer from refractory celiac disease should be expertly treated as there are often a number of different causes of this condition. Typically, doctors will use a form of steroid therapy through systemic steroids (prednisone) or a topical budesonide. Systemic steroids are corticosteroids that are generally given orally or intravenously. These work through reducing inflammation, as well as altering the body’s immune system response.

Potential future treatments

Currently, the only therapy that has been proven for the treatment of celiac disease is following a gluten-free diet. However, this is not always completely effective as when someone who suffers from the condition accidentally eats something with gluten in it, they may experience severe symptoms after doing so. Therefore, a treatment needs to be found that can stop the symptoms from resurfacing even when gluten products are ingested.

There are a number of treatments that are in the process of development for the disease. Some of these attempt to bind to the gluten or neutralise it, others seek to address the issues in the intestine’s barrier and the body’s response when gliadins in gluten are ingested.  

Researchers are also attempting to try and genetically modify wheat to remove the gluten component, however, they are yet to see success on these attempts.

None of the treatments mentioned are likely to be accepted or approved as means of therapies for coeliac disease in the next few years. However, thanks to these attempts, there is a high chance that these types of treatments will be able to aid those who suffer from celiac disease in the future.

Alternative medicine

As mentioned, there is currently no proven method of treatment for coeliac disease. There are, however, some enzyme therapies that are claiming to be able to aid in the digestion of gluten. These are available at some health stores and a number of other outlets. It is best that one always speaks to their doctor before taking any form of alternative medication as these are not scientifically proven to aid in the treatment of celiac disease.

What food precautions should be followed by people with celiac disease?

Gluten-free

It is not easy to always maintain a gluten-free diet. Fortunately, a number of companies have started to make gluten-free foods and products. Always check the labels as they should clearly state “gluten-free”.

The following is a guideline to help those who have celiac disease:

The following ingredients should be avoided (we mentioned some of these earlier):

  • Spelt
  • Wheat
  • Rye
  • Barley
  • Bulgur
  • Triticale
  • Durum
  • Farina
  • Semolina
  • Graham flour

The following are gluten-free starches and grains:

  • Corn
  • Buckwheat (despite its deceiving name)
  • Arrowroot
  • Amaranth
  • Cornmeal
  • Rice
  • Tapioca
  • Pure corn tortillas
  • Flours made from corn, potatoes, beans, rice or soy
  • Quinoa

The following are healthier and gluten-free foods:

  • Fruit
  • The majority of dairy products (in moderation)
  • Fresh meats (avoid meats that have a batter or marinade)
  • Peas and potatoes (starchy vegetables)
  • Lentils, rice and beans
  • Ciders, spirits, distilled liquors and wine (these are not necessarily healthy)

The following should be avoided unless the label clearly states “gluten-free”:

  • Bread
  • Pastries and cakes (sweet baked goods in general)
  • Beer
  • Gravies
  • Croutons
  • Cereals
  • Crackers
  • Oats
  • Processed meats such as polonies or hot dogs
  • Pasta
  • Salad dressings
  • Sauces (this also includes soy sauce)
  • Soups

The patient’s symptoms should improve within a number of days or a week when making the above dietary adjustments. Children’s intestines will normally heal within a few months (usually between three to six months).

In adults, intestinal healing can take a number of years. When the intestine has healed completely, then the body can absorb nutrients properly again. Keep in mind that this does not mean that one should resume normal eating habits and revert to the same diet as before they were diagnosed with celiac disease when symptoms abate as this will damage the intestine once again. Once someone is diagnosed with celiac disease, the condition and necessary dietary adjustments are lifelong.

Gluten-free grains

FAQ regarding coeliac (celiac) disease

How serious is coeliac disease?

Coeliac disease can lead to a number of complications if the condition is not diagnosed and treated. The condition damages the lining of the small intestine due to the body’s immune system response to gluten which it perceives as a threat to the body. This results in the patient’s body not being able to digest nutrients correctly. Malnutrition is one of the most common symptoms of celiac disease which can stunt growth in children and lead to several growth and health complications in adults.

What happens when a person with coeliac disease eats gluten?

It is often the case where someone who has been diagnosed with coeliac disease does not show any symptoms after eating something that contains gluten. However, this is not to say that damage to the intestine does not occur.

In most cases, people who have celiac disease and eat gluten will suffer from bloating, gas diarrhoea and abdominal pain. The symptoms tend to differ depending on the individual.

Are you born with coeliac disease?

Celiac disease is a genetic predisposition, this means that people are born with it in most cases. However, when someone develops the condition depends on their own environment and body. Some people will only develop the condition later in life when it is triggered by something such as stress or another autoimmune disease. There is still research being done to investigate the exact cause of the condition, however, the current theory is that patients are born with celiac disease.

Coeliac disease vs gluten intolerance or gluten sensitivity

The difference between celiac disease and gluten intolerance or gluten sensitivity, also known as non-celiac gluten sensitivity (NCGS), lies in the way that the body reacts to gluten.

Coeliac disease is an autoimmune disease wherein eating food which contains gluten triggers an immune system response that causes the body to attack itself, targeting the tissue within the intestinal lining.  As a result, the lining of the small intestine becomes inflamed and inadequate nutrient absorption occurs often leading to malnutrition.

Although controversy regarding non-coeliac gluten sensitivity (NCGS) abounds in the medical community and much research is still needed, it is thought that those with a gluten intolerance or gluten sensitivity experience a different type of immune system response when eating food that contains gluten than those with celiac disease.  Instead of attacking itself (as is the case with coeliac disease), the body sees gluten as an invader and attacks the protein directly, causing inflammation both within and outside of the digestive tract.

When determining whether a patient has coeliac disease or NCGS, a doctor will usually rule out celiac disease first and may then also conduct a gluten challenge, removing gluten from the diet and then adding it back to ascertain whether it is truly responsible for the symptoms experienced.

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