Atypical Symptoms of Celiac Disease.

The best known symptoms of celiac disease are digestive in nature – chronic diarrhea, abdominal pain, and unintended weight loss. However, celiac disease is much more than a digestive problem. Some of the top atypical symptoms are anemia, bones disease, elevated liver enzymes, neurological problems like migraines, short stature and reproductive problems. Learn more about each on below.

Listen to this informative podcast with Dr. Mohsin Rashid by Sue Jennett about the atypical signs. 

Dermatitis Herpetiformis

The term is a mouthful. Derm means skin and itis is inflammation. Herpeti refers to herpes which is a common virus that causes cold sores, usually on the lips. Because the rash in dermatitis herpetiformis (DH) consists of small fluid filled blisters resembling herpes infection, it is referred to as herpetiformis or herpes-like. However, DH is not causes by herpes virus. It is also called Duhring’s disease, named after a United States dermatologist Dr. Louis Duhring who first described the condition.

Dermatitis herpetiformis is “celiac disease of the skin”.  It is a chronic skin condition with a characteristic rash with intense itching and burning sensations. The most common areas affected are the knees, elbows, scalp, back of the neck and buttocks. The rash often has a symmetric distribution.

Approximately 10% of patients with celiac disease present with DH. It is less common in children. The diagnosis of DH can be confirmed with a skin biopsy. The vast majority of patients with DH will have involvement of the small intestine, just like in celiac disease. Therefore, a small intestinal biopsy is often not required. The treatment includes a strict lifelong gluten-free diet and in some cases medications.

Skin disorders are not uncommon in the general population. So how does one suspect DH and differentiate it from other causes of rash. Two features are important to consider. Firstly, the rash is chronic in nature and secondly it is extremely itchy. It is the intensity of the itch and burning that often helps differentiate DH from other skin diseases causing a rash.

Celiac Disease and Autoimmune Disorders

The human body has an immune system which helps to fight off infections. It is a sophisticated system comprising of several type of cells that play a variety of important roles in killing an organism when it invades the body. The immune system gets activated when an organism such as a virus or bacteria enters the body but goes back to the resting phase once the organism is killed.  It is smart enough to recognize what is part of its own body and what is foreign coming from outside. However, in some instances the immune system becomes abnormal and starts to recognize part of the body as foreign. It then goes and attacks those parts of the body causing damage with serious health consequences. These are called “autoimmune” disorders.

There are numerous autoimmune disorders known. One example is type-1 diabetes, where the immune system attacks and permanently destroys the cells in the body that make the hormone called insulin. Once this happens, the patient now has to take insulin by injections for the rest of their lives. Another common example is thyroid disease, where the immune system destroys the thyroid (a gland present in the neck). This leads to low thyroid function and one now has to take the thyroid hormone in the form of a pill every day. Some other examples of autoimmune disorders include lupus, multiple sclerosis, rheumatoid arthritis, etc.

Celiac disease is also an autoimmune disorder, in which the immune system attacks the lining of the small intestines and damages the villi (tiny finger like projections on the lining of the intestine that absorb nutrients). This can lead to a variety of symptoms and inability to properly absorb nutrients. However, celiac disease is unique amongst all other autoimmune diseases because the trigger that activities the immune system to the attack the intestine is known i.e. gluten. Once gluten is removed from the diet, the autoimmune process causing the damage is halted and the intestine recovers.

In patient with one autoimmune disorder, there is a risk of developing another autoimmune disorder.  This is why some patients with celiac disease can develop a second (and third) autoimmune disorder in their lifetime. The most common one is autoimmune thyroid disease. Alternatively, patients with an autoimmune disorder are at risk of developing celiac disease. Approximately 5-8% of patients with type-1 diabetes and 2-5% of patients with thyroid disease develop celiac disease. This can happen both in children and adults.

It is important to screen patients with an autoimmune disease for celiac disease and also follow patients with celiac disease closely for the development of another autoimmune disorder. A strict gluten-free diet by patients with celiac disease may reduce the risk of developing another autoimmune disorder somewhat, but does not take it away completely.

Celiac Disease and Dental Problems

Celiac disease spares no part of the human body. One area that can get affected is the mouth. Dental enamel defects and frequent oral ulcers (canker sores) can occur in celiac disease.

Enamel is the outer lining of the teeth. Dental enamel defects that develop in celiac disease, and the number of teeth affected, are strongly associated with the time of onset of the symptoms. The defects most commonly occur in the permanent teeth, usually developing before 7 years of age when the permanent teeth are in development. The enamel defects tend to occur symmetrically in all four sections of teeth in the mouth. Various grades of enamel defects can be seen including pitting, grooving or complete loss of enamel.

Some patients with celiac disease can have delayed eruption of teeth. Recurrent aphthous ulcers (canker sores) in the mouth is another manifestation of celiac disease. In some patients, this could be the only symptom of celiac disease. Sometimes, this is due to an autoimmune phenomenon. They do tend to improve with gluten-free diet. Click here to learn more.

Celiac Disease and Joint Problems

Celiac disease is an autoimmune disorder in which the body’s immune system attacks the lining of the small intestines. This can lead to a variety of symptoms and inability to properly absorb nutrients. If a patient has one autoimmune disorder, there is a risk of developing another autoimmune disorder.

Arthritis refers to inflammation of the joints. Rheumatoid arthritis is an autoimmune disorder where the immune system attacks the joints of the body causing pain, swelling and damage to the joints. Some patients with celiac disease may develop arthritis. Joint and bone pain in celiac disease can also occur from osteoporosis as a result of calcium and vitamin D deficiency due to malabsorption. Sometimes arthritis can be a presentation of celiac disease.




Anemia means low blood in the body. The term refers to decreased amount of hemoglobin, an important protein present in the red blood cells that is responsible for carrying oxygen to the tissues. The mineral iron and the vitamins folate and B12 are nutrients that are important in the formation of hemoglobin and red blood cells. A deficiency in any of these can lead to anemia. Symptoms of anemia are varied and include pale skin, fatigue, shortness of breath, dizziness and headaches.

In celiac disease there is damage to the lining of the small intestine, and this leads to poor absorption of nutrients including fat, protein, carbohydrate, minerals and vitamins. Iron deficiency anemia is the most common type of anemia seen in celiac disease. This is because iron is absorbed in the duodenum (the first part of the small intestine) which takes the brunt of injury from ingested gluten. Anemia from deficiency of folate and vitamin B12 can also occur. A patient may have deficiency of more than one nutrients. Even if the hemoglobin is normal, the stores of iron in the body are often poor.

Iron deficiency anemia is currently one of the most common presentations of celiac disease in adults. The diagnosis can be missed as anemia gets blamed on diet poor in iron, bleeding in the bowel or losses due to heavy menstruation. The patient may have no other symptoms, thus leading to delays in diagnosis.

Once treatment with strict gluten-free diet is started, the intestine heals and absorption of nutrients improves which leads to correction of the anemia. Depending on the type of anemia, oral supplementation with iron, folate and vitamin B12 may be required initially till hemoglobin normalizes.

Bone Issues

Calcium and vitamin D are important nutrients necessary for developing healthy bones. In celiac disease (CD) there is damage to the lining of the small intestine, causing poor absorption of nutrients including fat, protein, carbohydrate, minerals, like calcium, and vitamins, notably vitamin D. This can lead to weak bones (osteoporosis) and increased risk of fractures.

Celiac disease is one of the causes of osteoporosis. Patients may have chronic bone pain or frequent fractures. This could be present without any intestinal symptoms and hence the diagnosis of CD can be missed.

Bone health should be assessed in detail in all patients diagnosed with CD who present with malabsorption (diarrhea, weight loss). This is done by a special X-ray called a DXA bone density study. This helps determine how much calcium is stored in bones are compared to other individuals of same age and gender.

Once treatment with strict gluten-free diet is started, the intestine heals, and absorption of nutrients improves which leads to correction of osteoporosis. Oral supplementation with calcium and vitamin D may be required. A diet rich in calcium and regular exercise is also helpful in maintaining health bones. A follow-up bone density study in a few years is important to document correction of osteoporosis.

Liver Disorders

The human body has an immune system (white blood cells) that performs several important functions including combating infections. Sometimes, the immune system can turn against the own body and start to cause damage to various organs. These are called autoimmune disorders. For example, type 1 diabetes is an autoimmune disorder where the immune system damages the cells of the body that makes an important hormone called insulin which controls blood sugar. The patient now must take insulin by injection for the rest of the life.

Celiac disease (CD) is also an autoimmune disorder where the immune system attacks the lining of the small intestine in the presence of gluten (a protein in wheat, rye and barley). However, CD is a unique autoimmune disorder in that removal of gluten from the diet can allow the intestine to heal and return to normal function.

A patient who has one autoimmune disorder is at risk of developing another one. Autoimmune hepatitis is an autoimmune disease where the liver is attacked by one’s immune system. (The word hepatitis means inflammation of the liver). There are many causes of hepatitis. For example, consuming alcohol can cause alcoholic hepatitis. Patients with CD are at risk of developing autoimmune hepatitis and other autoimmune diseases of the liver such as primary sclerosing cholangitis and primary biliary cirrhosis. The opposite is also true, patients with autoimmune hepatitis (and other autoimmune liver problems) are at higher risk of developing CD. In fact, it is recommended that all patients with autoimmune hepatitis should be screened for CD.

Liver enzymes are chemicals present in the liver that leak out normally in small quantities into the blood stream. One group of these liver enzymes are called transaminases (namely ALT and AST). When there is inflammation of the liver (hepatitis), these enzymes leak out in larger quantities. Some patients with CD can present with this type of inflammation with increased transaminases without any other symptoms. This can cause serious damage to the liver over time. A timely diagnosis of CD is important as the gluten-free diet will help resolve the inflammation.

In patients with CD who have other autoimmune liver disorders listed above, medications may be required.

Neurologic Problems

Celiac disease (CD) can present with a variety of neurological symptoms. Also, patients already diagnosed with CD may develop neurological problems.

Peripheral neuropathy is one manifestation of CD. Neuropathy means inflammation of the nerves in the body. The patient may have a variety of symptoms especially feeling of pins and needles and numbness in the arms and legs. Folate, vitamin B12 and vitamin E are nutrients important for nerve function. The damage to the small intestine that happens in CD can lead to deficiency of these nutrients. In some cases, the neuropathy has an autoimmune basis. As CD is an autoimmune disease, patients are at risk of developing other autoimmune disorders including autoimmune neuropathy.

There is suggestion that patients with CD have a higher incidence of epilepsy (seizures). However, the exact cause and effect relationship is not always clear. Both CD and epilepsy are common disorders in the general population and it is possible that some patients have both just by coincidence. Folate is important for brain function and a deficiency may be responsible for seizures in some cases. A peculiar type of neurological problem has been described in children who have seizures along with areas of abnormal calcium deposits in the brain and CD.

A portion of patients with migraine headaches may have undiagnosed CD. The diagnosis of CD should be considered especially if the migraines are chronic and intractable.

Gluten ataxia is another gluten-related disorder. It is different from CD in that the usually performed screening blood test (TTG-antibody) is negative and there is no damage to the intestine on biopsy.  Ataxia refers to poor coordination of movements and an unsteady gait. Gluten ataxia is an immune-mediated disease triggered by the ingestion of gluten in genetically susceptible individuals. It causes damage to the part of the brain called cerebellum that controls the coordination and movement of the muscles. Gluten ataxia should be considered in the differential diagnosis of all individuals with ataxia. Early diagnosis and treatment with a gluten free diet can improve ataxia and prevent its progression. Individuals with gluten ataxia may or may not also suffer from CD.

Reproductive problems

There are several causes of infertility. One cause of unexplained fertility problems is undiagnosed celiac disease (CD).

The exact cause of infertility in CD is not clear. Because of damage to the small intestine, there could be deficiency of folic acid, zinc and selenium, nutrients that are important for reproductive health. However, these nutrients are normal in some cases, so other factors must be at play. In some women with CD who have a low body mass index (BMI), levels of hormones important in fertility may be altered. The good thing is that women who are already diagnosed with CD and are on a gluten-free diet, do not have a higher risk of infertility compared to general population.

Women with undiagnosed CD also have an increased risk of spontaneous miscarriages and giving birth to pre-term babies. These women should be screened for CD with appropriate serological tests.

Men with undiagnosed CD may also have a risk of infertility, although this is less well studied.

Short Stature

Celiac disease (CD) can present with short stature in children. Short stature means that the height of the child is less than expected for weight compared to other children of same age. This may happen with or without other symptoms such as abdominal pain or diarrhea.

There are many causes of a child being short. One of the commonest causes is familial short stature when one or both parents are short and the child follows the familial/genetic pattern. Some children are born of normal height but then slow down their height growth after a year or two of age. They continue to grow although remaining short until they enter puberty where there is acceleration of height growth back to normal. This is called constitutional short stature. Children may have deficiency of growth hormone or other disorders such as kidney disease or use of certain medications that affects their ability to gain appropriate height.

Short stature can be the only presenting clinical feature of CD in the absence of other symptoms. In unselected patients investigated for short stature, the prevalence of CD varies from 2.9% to 8.3%. Celiac disease is far more common than growth hormone deficiency or any other organic cause of short stature.

The cause of CD-associated short stature is unclear. Proposed mechanisms include growth retardation due to generalized or selective malnutrition (eg, zinc deficiency), alterations in the insulin-like growth factor-1 system and a low response of growth hormone secretion after stimulation that reverts to normal after starting treatment with the gluten-free diet. It is not known whether the impaired release of growth hormone is related to malnutrition, to the action of circulating gluten proteins in the brain or to an abnormal metabolism of other brain chemicals.

Celiac disease should be considered in any child with short stature. Serological testing should be obtained before doing more extensive (and expensive) hormonal evaluation in children with short stature. Fortunately, many children will show catch-up in their height after treatment with the gluten-free diet.


Signs & Symptoms

Learn more signs and symptoms of celiac disease here.

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