Coeliac Disease: The Undiagnosed Epidemic
Coeliac (or celiac) disease is defined as being an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages. It was first described in Ancient Greece and is not an allergy or an intolerance but a lifelong antibody reaction to gliadin, a component of the protein gluten which occurs in grains including wheat, barley and rye.
When someone with coeliac disease is exposed to gliadin, the enzyme transglutaminase modifies the protein so that it is similar to one found in the small intestine. The immune system then attacks the intestinal lining destroying the small finger-like projections known as villi which maximise the surface available for absorption of nutrients.
Inside each villi is a lacteal - a blind-ended tributary of the lymphatic system - which absorb fats and fat soluble nutrients. And, surrounding the lacteal are capillaries which absorb all the water soluble components and nutrients into the circulation.
As the intestinal lining becomes inflamed and the villi destroyed by the antibody reaction, the mechanism for absorption of nutrients is lost and affected individuals suffer from malabsorption.
The normal anatomy of the small intestine and the atrophied villi of coeliac disease
Historically, in order to receive a diagnosis of coeliac disease an individual had to have a positive biopsy revealing destruction of the villi, followed by a period on a gluten-free diet and a further biopsy showing recovery of the villi. Using this cumbersome test approximately 1% of the population were believed to be affected.
In addition, the antibody reaction causes the release of pro-inflammatory cytokines throughout the body which can cause widespread inflammation and can also turn on genes which have a detrimental effect on the body (J Human Immun 2010, Vol 71). Coeliacs have also been shown to lack the normal protective intestinal flora and to have pathological, destructive bacteria which persist even after establishing a gluten-free diet.
The incidence of coeliac disease
The umbrella term gluten sensitivity is used to include coeliac disease and gluten intolerance, and there is now thought to be an epidemic of gluten sensitivity with approximately 3 million Americans estimated to be gluten sensitive (Am J Nut, 1999). Gluten sensitivity is caused by elevated levels of anti-gliadin antibodies.
The classical symptoms of coeliac disease include stunted growth in children, irritable bowel-type symptoms, colitis, bloating, rectal itching, undigested food in the stools, foul smelling stools, chronic diarrhoea, fatigue and weight loss. However, it is now widely recognised that these more obvious symptoms may just represent the tip of the iceberg and that there may be a wide range of other seemingly unrelated symptoms in what is referred to as silent and latent coeliac disease.
"For every symptomatic patient with coeliac disease there are 8 patients with coeliac disease and no gastrointestinal symptoms"
Gastroenterology 2001, Vol 20
The term silent coeliac disease refers to individuals who have abnormal antibody blood tests for coeliac disease in addition to an abnormal small intestine biopsy, but have no symptoms or signs of coeliac disease, even when eating a diet that contains gluten. These individuals can go on to develop the overt signs and symptoms of coeliac disease later in life.
Whereas the term latent coeliac disease refers to individuals who have abnormal antibody blood tests for coeliac disease, but who are asymptomatic and have a normal small intestine biopsy. These individuals too can go on to develop silent and then overt coeliac disease later in life.
The coeliac disease iceberg
Even accepting the incidence figure of 1%, would indicate that approximately 230,000 US children under the age of 5 are coeliacs - the vast majority of whom go undiagnosed. However, now with advances in screening a great many people are being revealed as having an antibody reaction to gliadin and the true scale of the problem is becoming apparent. Recent research suggests that up to a quarter of all children in the UK and Alberta are coeliacs and this statistic is likely to be indicative of the scale of the problem elsewhere.
Women are 2.5-3 times more likely to suffer with coeliac disease than men. And, although an inherited, permanent condition, the process of developing coeliac disease is a decades long process involving at least six recognised steps most of which are under the threshold of clinical manifestation (Lancet 2001, Vol 358 and Annals Int Med 2003, Vol 139).
Coeliac disease is often eventually diagnosed mainly between the ages of 30 and 50 years when the body's compensatory mechanisms are finally exhausted. At this stage the typical coeliac has been symptomatic for over eight years and has seen an average of 5 physicians before diagnosis.
The fact is that everytime an adult is diagnosed it means that they have had the silent or latent form of the condition since birth and the diagnosis may have followed decades of chronic ill health and fatigue coupled with a compromised immune response and poor wound healing.
According to Dr Joseph Murray of the Mayo Clinic, most practitioners are not familiar with the non-typical forms of coeliac disease and the rate of diagnosis depends entirely upon the rate of suspicion (A J Clin Nut, 1999, Vol 49). Most general practitioners and even most specialists are still looking for the classical gastrointestinal symptoms to initiate an investigation into the possibility of coeliac disease. Most physicians fail to recognise the many other presentations of coeliac disease and only half of specialist gastroenterologists successfully diagnose cases (Gut 2006).
"That gluten sensitivity is regarded as principally a disease of the small intestine is a historical misconception."
J Neurol Neurosurg Psychiatry 2002, Vol 72
Gluten sensitivity and psychiatric and neurological disorders
The neurologist, Dr. Marios Hadjivassiliou, indicates that the antigliadin antibodies of the coeliac can be directly and uniquely toxic to the brain. In fact, the central and peripheral nervous systems may be the primary target of the immune response triggered by sensitivity to gluten causing the psychological and neurological disorders listed below.
Sciatica, numbness and other pains in the legs and/or arms due to the destruction of nerve endings. Most subjects in one study obtained relief and half were cured when they followed a gluten-free diet (Arch Neurol Oct 2005, Vol 62).
Neurodegenerative disorders The immune response triggered by sensitivity to gluten particularly affects the central and peripheral nervous systems causing symptoms such as ataxia, confusion and memory impairment and conditions such as Parkinson's disease, Alzheimer's disease and multiple sclerosis (Gut 2002, Vol 50 and J N N Psy 1997, Vol 63).
Depression Organic brain damage is caused by a deficient circulation to the frontal lobes typically followed by reperfusion which is believed to cause the formation of white matter lesions as blood supply to the area is restored. This is associated with high levels of anxiety and depression and in one study half of those who did not respond to drug therapy were cured by following as gluten-free diet.
Learning disabilities 20% of children with coeliac disease have white matter lesions of the brain and the incidence is high enough that some authorities suggest that coeliac disease should be positively ruled out in all learning disabled children (J Ped, Dec 2001, Vol. 108).
Migraines and headaches In a study by Dr. M. Hadjivassiliou, 10 patients who had not been able to work for 8 years due to the severity of their migraines were put on a gluten-free diet. All had elevated gliadin levels and white matter lesions. 7 of the 10 did not have another migraine, 2 experienced a significant improvement in their symptoms and one refused to follow the diet (Neurology 2001, Vol 56).
Schizophrenia In 1967 it was noticed that the incidence of coeliac disease amongst adult schizophrenic in-patients was 50-100 times the norm and gastroenterologists have also observed that their coeliac patients are schizophrenic about 10X as often as the general population.
Epilepsy Several studies have established a link between coeliac disease and epilepsy and alleviation of fits when following a gluten-free diet. In addition, up to 10% of coeliacs may also suffer with epilepsy (Paediatrics, June 2004, Vol 113).
Autoimmune diseases and gluten sensitivity
The incidence of autoimmune diseases has doubled every 15 years for the past 75 years, and is now the third leading cause of death in the U.S. This effect cannot be due to genetics alone but is thought to be due to the interplay with an environmental factor.
The coeliac's body produces organ specific antibodies in response to exposure to gliadin and these disappear after 3-6 months on a gluten-free diet (Am J Gastroent 2002, Vol 3). These organ specific antibodies can attack tissues including the thyroid, heart, skin, and hair causing the 100 or more autoimmune diseases (Dig Dis Sci 2000, Vol 45). However, the antithyroid antibodies appear to be particularly persistent even after excluding gluten from the diet.
In a retrospective study of coeliac disease patients, 21% were found to have at least one other autoimmune disease and coeliac disease is 140% more frequent in patients with autoimmune thyroid disease. If coeliac disease is diagnosed before the age of 2, then the lifetime chance of developing an autoimmune disease is 5%, if diagnosed between 2-10 17%, and over the age of 10 years is 24% (Gastroent 1999, Aug 117).
Infants given cereal before 3 months of age are between 4 and 6 times more likely to develop antibodies to their pancreatic islets by the age of 5, whereas exposure after 6 months of age is not associated with an increased risk of type II diabetes (JAMA Oct 2003).
Gluten sensitivity may also manifest as a variety of skin conditions including urticaria, psoriasis, vitiligo, Behçet's disease, lichen planus, porphyria, alopecia, and pellagra. A recent study demonstrated that intestinal permeability (leaky gut) is closely related to autoimmune diseases and that the symptoms can be modulated and reversed by healing the intestine (Clin Rev All Immun, Nov 2011).
"The prevalence of autoimmune disease in coeliac disease is related to the duration of exposure to gluten"
JAMA 2003, Vol 290
Other manifestations of gluten sensitivity
Other manifestations of gluten sensitivity include the following:
Osteoporosis Calcium absorption from the intestine is profoundly affected by coeliac disease leading to osteoporosis (Gut 2003, Vol 52). The incidence is high enough that some authorities suggest testing all osteoporosis sufferers for coeliac disease (BMJ 1999, Vol 319).
Cardiovascular disease is the leading cause of death and incidence is 40% higher in coeliacs and 60% more likely to be fatal.
Stunted growth Coeliacs are often shorter and lighter throughout life due to delays in development and growth inhibition of all organs and tissues (BMJ 2004, Vol 328).
Dental defects One in five children with coeliac disease have dental defects.
Deafness and hearing loss This is a common problem affecting nearly half of all coeliac patients. This figure reduces after a year on a gluten-free diet (Scan J Gastro 2007, Vol 15).
Chronic fatigue syndrome According to a study by Dr. Hadjivassiliou and his team in Sheffield a third of patients suffering with chronic fatigue syndrome were found to be undiagnosed coeliacs when intestinal biopsies were taken.
Delayed puberty is a recognised sign of coeliac disease, particularly in girls.
Nutritional anaemia may also be associated with undiagnosed coeliac disease.
Increased mortality When coeliacs are compared to non-coeliac relatives, there are twice as likely to die from all causes. In addition, coeliacs who occasionally eat gluten (either accidentally or intentionally) as little as once a month are 6 times more likely to die than those that strictly maintain a gluten-free diet (Lancet 2001, Vol 358).
"Diverse problems such as dental anomalies, short stature, osteopaenic bone disease, lactose intolerance, and infertility and many others may be the only manifestations of coeliac disease."
Dr Joseph Murray, Am J Clin Nut March 1999
Villus atrophy is now not thought to be a good test for coeliac disease because it requires end stage organ damage to make a diagnosis.
There are a number of more sensitive and less invasive tests which can be ordered direct from www.enterolab.com or through a physician including:
A gene test assesses whether you have inherited the genes associated with coeliac disease.
A gluten sensitivity stool panel which looks for the presence of antigliadin antibodies in the intestinal contents.
A fat malabsorption stool test establishes whether there is malabsorption of dietary nutrients due to intestinal damage.
Other markers of inflammation include elevated C reactive protein and homocysteine levels.
It is particularly important to screen at-risk children before end-stage organ damage occurs.
Treatment: A gluten-free diet
The only treatment for coeliac disease involves a lifelong and rigorous avoidance of gluten-containing grains which include wheat, barley, rye and to a lesser extent, oats which often become contaminated with wheat proteins during processing. If the coeliac stops consuming gluten then the levels of cytokines in the body gradually decrease, but may take a year or so to do so.
In addition to excluding all gluten, some authorities suggest also excluding all dairy, sugar and caffeine and eating an additional couple of protein snacks.
In addition, the following supplements may also be helpful:
2,000 IU of vitamin D daily helps re-establish the intestinal barrier
Lactobacillus acidophilus probiotics help with abdominal pain
EPA and DHA 3g a day
L glutamine and protein powders aid intestinal healing.
For lists of gluten-free foods and for more information about coeliac disease go to www.coeliac.org.uk in the UK and www.celiac.org in the US.
Good books on this topic include Dangerous Grains by James Braly and Ron Hoggan available from Amazon UK or US or The Gluten Effect by Dr Vikki Petersen available from Amazon UK or US.