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Journey down the bowel: a look at the Coeliac (Celiac) Disease

TABLE OF CONTENTS:

Introduction………………………………………………………………………………… 1

Coeliac disease, a definition……………………………………………………………… 1

CD: a short history ………………………………………………………………………… 2

An autoimmune, genetic disease………………………………………………………… 5

Gluten triggers CD attack…………………………………………………………………. 6

At risk population, prevalence and the need for early detection……………………… 7

Diagnosis and prognosis of CD: a discussion………………………………………….. 10

Ending the journey down there: the conclusion………………………………………… 15

Bibliography………………………………………………………………………………….16

Introduction:

IT IS A SILENT PLAGUE. Some of those who have the disease suffer from no symptoms at all—meaning the disease for most of the time is asymptomatic; while there are some clinicians say that there are about 200 known signs and symptoms of this disease (University of Chicago Celiac Disease Center, n. d., p. 1). If you will look at the profile of those who have already contracted it, you will find that the ‘victims’ vary on age, civil status, and race (Rodrigo, 2006, p. 6586).

In the past decades, it is estimated that around two to three million Americans and about three million people in Europe. All over the world, there are about 20 million people who are suffering with the disease that affects not only their well-being but also their health. And according to a medical expert from Spain the disease is rapidly spreading in almost all continents in the world (Rodrigo, 2006, p. 6585). You might have been asking, what is this disease that we are talking about? It’s the Coeliac Disease (CD).

Coeliac disease: a definition

NATIONAL DIGESTIVE Diseases Information Clearinghouse (NDDIC) of the U.S. Department of Health and Human Services defines CD as a “digestive disease that damages the small intestine and interferes with the absorption of nutrients from food” (2008, p. 1).

Loftus and Murray, both gastroenterologists and hepatologists from the Mayo Clinic in Rochester, Minnesota said that CD is a chronic illness, characterized by irritation or swelling of the fingerlike lining of small intestines called the villi (2010., p. 1). These fingerlike lining in the small bowel (another term for the small intestine) function helps us in absorbing nutrients in the food we eat (Encyclopædia Britannica Online, 2010).

Photo of healthy (normal) villi of the small bowel (NDDIC 2008)

CD: a short history

In a lecture delivered by Samuel Gee in 1887, it was the first time that the disease has been mentioned (Dewar & Ciclitira, 2004 p. 23). Gee, cites Dewar & Ciclitira (2004) said that the disease is being characterized by lassitude, failure to thrive and diarrhea (p. 23).

It was Paulley who has provided the medical community the accurate picture or description of a coeliac lesion in 1954, for it was he who has carefully examined the biopsies taken at lapatory. (Dewar & Ciclitira, 2004 p. 23). On the other hand, it was Marsh who had proposed to classify different types of celiac lesions as he is the one who has dug into the subject more deeply, as he examined, in 1992, relatively a huge number of samples of tissues taken from the patients (Dewar & Ciclitra, 2004, p. 23).

An autoimmune, genetic disease

Prof. Luis Rodrigo of the Gastroenterology Service of Hospital Universitario Central de Asturias, in Asturias, Spain had said that CD is autoimmune disease (2006 p. 8565). When the disease is called autoimmune, it means that the person’s own immune system attacks some healthy tissues thus causing the disorder (MedicineNet.com, 2010). Those people who suffer from autoimmune diseases usually have “unusual” antibodies circulating in their blood that target their own body tissues (MedicineNet.com, 2010).

Most of the detected cases of CD involve patients who have family members who are also suffering with the disease (Loftus and Murray, 2010., p. 1), thus making the disease genetic (Mäki et al., 2003 p. 2517; University of Chicago Celiac Disease Center, n. d., p. 2).

Kaskoff (2004) had identified the gene HLA class II DQ subregion on chromosome 6, is necessary—but insufficient—for a person to develop CD; the person must also have DQ2 heterodimer comprised of DQB1*02 and DQA1*05 (as found in 95 per cent of the patients diagnosed with CD). Nevertheless, five per cent of the people diagnosed with CD having DQ8 heterodimer that is comprised of DQB1*0302 and DQA1*03. He also explained that a small percentage or a few number of people who lacks the aforementioned heterodimers—had either DQA1*05 or DQB1*02 (p.19).

Likewise, gene dosage also affects CD susceptibility, says Kaskoff (2004, p. 20). “The DR17 homozygous individuals who carry DQB1*02 and DQA1*05 in cis on both chromosomes have a greater risk of [having the] disease,” Kaskoff (2004) said.

Gluten triggers CD attack

Moreover, contrary to the popular belief that CD is just a pure digestive alteration, says Rodrigo, CD is a protean systemic disease (2006 p. 8565). Gluten, a certain type of protein found in wheat, barley and rye was said to be “triggering device” for the disease to “launch an offence” against the sensitive lining of the small bowel (Mäki et al., 2003, p. 2518). Lemkin writes in December 2003,

“Celiac disease (also known as gluten intolerance, celiac sprue, non-tropical sprue, or gluten-sensitive enteropathy) is a lifelong autoimmune genetic digestive disorder in which there is an abnormal response to gliadin, a protein fraction of gluten naturally found in some grains.” (p.1)

Lemkin further explained that eating food containing gliadin pulls the trigger for the T-cells to attack the lining of the small bowel, thus damaging that sensitive lining of the intestine (p. 1). Some gastroenterologists said that oats can be “fatal” to those who are suffering from the disease. Meanwhile the NDDIC (2008) said that:

“When people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging or destroying villi… Villi normally allow nutrients from food to be absorbed through the walls of the small intestine into the bloodstream. Without healthy villi, a person becomes malnourished, no matter how much food one eats.” (p. 1)

This is why health experts say that CD is a multi-symptom, multi-system disease. (Case, 2006 as cited in Ward, 2006 p. 1; NDDIC 2008, p. 1).

The photo shows the features of healthy villi (left), against the damaged by the CD (right) (Loftus and Murray, 2010.)

At risk population, prevalence and the need for early detection

THE NDDIC (2008) stated that celiac disease is also more common among people with other genetic disorders including Down syndrome and Turner syndrome, a condition that affects girls’ development (p. 3). In addition to this, people with the disease are also detected to have other autoimmune disorders such as rheumatoid arthritis and type-1 diabetes (Ward, 2006 p. 1). Moreover, the NDDIC also stated that CD is also common to persons with Addison’s disease (a condition in which the glands that produce critical hormones are damaged); Sjögren’s syndrome, a condition in which the glands that produce tears and saliva are destroyed; and those who have autoimmune thyroid and liver diseases (p. 2).

Calling it a chameleon disease (Fasano, 2003 p. 2568), medical scientists from Finland admitted that there is a serious concern over the under-diagnosis of the disease for it is detrimental to the health of the patient, especially for growing children, despite the fact that the disease is well-known in the country (Mäki et al., 2003 p. 2518).

What is more alarming is that, if the disease remains undetected, it will cause more harm to the patient (Case, as cited in Ward, 2006, p. 1) as CD is usually linked to anemia, osteoporosis, depression, behavioral problems, and stunted growth in children, among other problems (p. 1).

Mäki et al’s view about the disease is being supported by the study made by Rodrigo (2006) that states in the past decade, CD is treated as a rare disease being clearly under-diagnosed and underestimated by experts worldwide, but now considered [as] one of the of the most commonly known genetic diseases, with a mean prevalence of one to two per cent (1% – 2%) in the general (pp. 6585 – 6586).

Based on the latest statistics, as mentioned earlier in the prefatory part of this essay, it is estimated that 20 million people, globally are infected with the disease. In the U.S., about 1:133 Americans are affected by the disease and prevalence of the disease between two people with first degree of consanguinity is 1:22 (Lemkin, 2003 p. 1). This means that in the U.S. alone, there are about three million people who suffer from this chronic illness (Rodrigo, 2003 p. 8586).

If experts are to include all the diseases that have something to do with gluten, the prevalence would shoot up, between five per cent of the entire American population to as high as 30 per cent (Lemkin, 2003 p. 1).

Moreover, in European countries, there are about three (3) million people, who are affected by the disease. In Asia, it is suspected that there about 10 million Chinese are suspected of having this lifelong disease, which is equivalent to 10 per cent of the entire population of the People’s Republic of China. (Rodrigo, 2003 p. 8586). Furthermore, in South Asia, especially in India, the prevalence of the disease is relatively high. It is said that 26 to 49 per cent of children who are suffering from chronic diarrhea are diagnosed of having CD (p.8686).

Detection is hard, says Pietzak (as cited in Ward, 2006 p. 1) says that the it would take, 12 years—more or less—to have a definitive diagnosis of CD in some adult patients (p. 1).

The NDDIC revealed that symptoms of the disease vary from person to person (2008 p. 2). However, in children the common symptoms are these: abdominal bloating and pain; chronic diarrhea; vomiting; constipation; pale, foul-smelling, or fatty stool; and weight loss (NDDIC, 2008 p. 2). Due to malabsorption of nutrients from food, irritability is also common with children affected by CD (NDDIC, 2008 p. 2)

The NDDIC, meanwhile said, that some adults may not have a digestive manifestation or symptoms of the disease, the State agency enumerated some signs that may signal the patient to undergone testing in order to find if he or she is suffering from celiac disease:

· unexplained iron-deficiency anemia

· fatigue

· bone or joint pain

· arthritis

· bone loss or osteoporosis

· depression or anxiety

· tingling numbness in the hands and feet

· seizures

· missed menstrual periods

· infertility or recurrent miscarriage

· canker sores inside the mouth

· an itchy skin rash called dermatitis herpetiformis

Although some people might not suffer from any of these symptoms, there are still dangers they might catch the complications associated with CD. That is why, experts highly recommends that they may also undergo CD testing.

Diagnosis and prognosis of CD: a discussion

Even the U.S. Health Department admits that detecting the disease is difficult as symptoms of some digestive diseases are similar with the known symptoms of CD (NDDIC 2008, p. 4).

“Celiac disease can be confused with irritable bowel syndrome, iron-deficiency anemia caused by menstrual blood loss, inflammatory bowel disease, diverticulitis, intestinal infections, and chronic fatigue syndrome. As a result, celiac disease has long been underdiagnosed or misdiagnosed,” read the primer of NDDIC (2008, p. 4).

There are two methods to diagnose if the patient has CD: one is through serum test (blood test) and intestinal biopsy (NDDIC 2008, p. 4).

A. The map of the blood: the serological testing in determining CD on suspect patients

In the former, the doctors will test the blood of the patient if there are indications of high levels of anti-tissue transglutaminase antibodies (tTGA) or the anti-endomysium antibodies (EMA), the antibodies that attacks healthy tissues inside the body.

Hill (2004) said that serological tests are very important for the identification of patients who need intestinal biopsy in order to diagnose correctly if the patient has CD. Hill said that the most common types of test being administered commercial laboratories in order to diagnose a patient who is suspected of having CD are IgG- and IgA-based antigliadin antibodies (AGA-IgG and AGA-IgA), IgA endomysium antibody (EMA-IgA), IgA tissue transglutaminase antibody (TTG-IgA), and IgA antireticulin antibody (ARA-IgA) (p. 27).

However, there are some questions on the sensitivity and specificity of these tests as some scientists had tested this only in research, and not, in the clinical setting and the accuracy of such tests might not that accurate as some may presumed (Hill 2004, p. 27).

Hill (2004) had identified three (3) reasons of why some of the tests might not be accurate: (1) there is inadequacy of standardization of tests between laboratories; (2) study populations in the research settings usually differ from those in clinical practice; and (3) the definition of “gold standard” for diagnosing CD is quite problematic (p. 26). In order to support this claim, Hill (2004) had presented a table that presents the high variability of the sensitivity and specificity of different tests administered in adults and in children:

Hill 2004

From the aforementioned, comparative results, Hill (2004) had drawn the following conclusion(s):

1. TTG-IgA (human recombinant) and EMA-IgA are the most sensitive and specific serological tests available for identifying individuals who require an intestinal biopsy for CD diagnosis. Their accuracy in clinical practice may not be as good as that reported from the research setting. Therefore, a positive diagnosis of CD should not be made on the basis of a serological test alone without intestinal biopsy confirmation.

2. Serological tests may be less reliable in very young children. AGA tests are no longer recommended as a screening test because of the variable sensitivity and specificity associated with this test. There is no advantage to using a panel of tests incorporating AGA, EMA, and TTG antibodies over a single test using EMA or TTG. (p. 28).

Rostom, on the other hand, in his study about the sensitivity and specificity of different serological testing needed in determining the presence of certain antibodies in some patients that poses the possibility of the subject of having CD, presented at the NIH Consensus Development Conference on Celiac Disease in 2004, had concluded that, overall, the results suggest that EMA and tTG antibodies demonstrate extremely high specificities in both adults and children (p. 42)

Based on his review, Rostom (2004) had found out that in the studied populations, testing for the IgA-EMA and IgA-tTG have sensitivities and specificities each in excess of 90 percent in both children and adults; that the pooled specificity of EMA was 100 percent in adults using either EMA-ME or EMA-HU; that in studies of children, the specificity of EMA using these two substrates was 97 percent and 95 percent, respectively, with overlapping 95 percent CIs, suggesting that there is no statistical difference between these values; that in adults, the pooled specificity of tTG-GP and tTGHR were 95 percent and 98 percent, respectively, with overlapping CIs; that in children, similarly, the specificities were 96 percent and 99 percent, again with overlapping CIs; and that among the three studies in adults, and four studies in children that assessed both EMA and tTG, the specificities were nearly identical (p. 42).

On the other hand, Eisentbarth (2004) since most of the cases of CD are genetic, it is good for the babies to be subjected in the newborn screening process in order to detect if the child is susceptible to the autoimmune disease (p. 39).

He also said that newborn screening can also prevent the repeated testing to certain population, in order to discover or diagnose individuals or groups susceptible in developing transglutaminase autoantibodies (TGAs), which cause autoimmune diseases, such as CD and type-1 diabetes (p. 39).

He also said that testing from a public health perspective is likely to be useful, given the prevalence of celiac disease and the potential for altering relatively simple factors such as the timing of introduction of gliadin (p. 39).

B. Scrutinizing the tissues: Intestinal Biopsy

If the blood tests had already shown the indicators that someone might have CD, the doctor might recommend that the patient must undergo intestinal biopsy or small bowel biopsy (SBB). This method is done by getting some tissues from the small bowel to check the extent of the damage that CD had done (NDDIC, 2008 p. 4).

However, there are some deficiencies in this method as the manifestations of CD, in some cases, are very subtle and can only affect older children and some adults (Rewers, 2004 p. 45). On the other hand, some of the patients poorly accept the method, especially to those who suffer from very mild, to no symptoms at all (Rewers, 2004 p. 45).

Rewers also furthered that SBB “also hardly a “gold standard”—occasionally false-negative due to patchy mucosal changes, often most severe in proximal jejunum, and typically not reached by endoscopic biopsy.”

As the diagnosis shows that the patient is positive with CD, the recommendation is the shift from a gluten-full to gluten-free diet (GFD) in order for the small bowel to heal (NDDIC 2008 p. 5).

The NDDIC said the only way for the CD not to advance rapidly and cause other disease such as anemia, osteoporosis and even intestinal cancer, to develop is for the person is to go to strictly (GFD) (p. 9). This means that the patient can eat any food, as long as it is gluten-free. However, there are also precautions in food suspect to contain gluten such as bouillon cubes, brown rice, syrup candy, chips/potato chips cold cuts, hot dogs, salami, sausage communion wafers, French fries gravy imitation fish, matzo, rice mixes, sauces, seasoned tortilla chips, self-basting turkey soups, soy sauce, and vegetables in sauce (NDDIC 2008, p. 8).

Governments such as of the United States are now advancing research in order to detect CD much faster and make the person who has it, can live in a more happy and healthier life (NDDIC 2008, p. 9).

Researchers are now developing possible ways of detecting thus managing the disease more easily (NDDIC 2008, p. 9). The National Institute of Diabetes and Digestive and Kidney Diseases of the U.S. Department of Health and Human Services are is now evaluating some drugs in order to prevent the attack and the advancement of the disease (NDDIC 2008, p. 9).

They have also launched some campaigns in order to propagate the education about the disease and to prevent the CD-associated diseases that we have mentioned earlier in the essay.

Ending the journey down there: the conclusion

In conclusion, the CD is an autoimmune disease being characterized by the damage of the small intestines’ lining by protein called gluten. In the past decades, the CD is considered as a rare disease but the rapid spread of this autoimmune, lifelong disease had caused alarm to the scientific and medical communities, that they have arrived in the conclusion that the disease is often misdiagnosed or under-diagnosed.

On the other hand, the two known methodologies in detecting the presence of the disease are the serological testing and intestinal (small bowel) biopsy. The former tests the patients in the presence of the gene HLA class II DQ subregion on chromosome 6, is necessary, though this is insufficient for a person to develop CD and the DQ2 heterodimer comprised of DQB1*02 and DQA1*05 (as found in 95 per cent of the patients diagnosed with CD). The latter is invasive, for it needed to obtain portions of the small intestine’s tissue in order to assess the damage.

Furthermore, research on the disease is being advanced in order to arrest future problems associated with the CD. (30)

Bibliography:

Dewar D. and Ciclitira, P. J. (2004). The Pathology of Celiac Disease. In: U.S. Institutes on Health Consensus Development Conference on Celiac Disease, Bethesda, Maryland, (MD) USA. Maryland: .U.S. Institutes on Health.

Eisenbarth, G. S. In: U.S. Institutes on Health Consensus Development Conference on Celiac Disease, Bethesda, Maryland, (MD) USA. Maryland: .U.S. Institutes on Health.

Encyclopædia Britannica (2010). Viilus. Available at: Encyclopædia Britannica Online: <http://www.britannica.com/EBchecked/topic/629261/villus> [Accessed 24 September 2010]

Fasano, A. (2003) Celiac Disease — How to Handle a Clinical Chameleon. New England Journal of Medicine, 348 (25), p. 2568

Hill, I. (2004) What Are the Sensitivity and Specificity of Serological Tests for Celiac Disease? Do Sensitivity and Specificity Vary in Different Populations? In: U.S. Institutes on Health Consensus Development Conference on Celiac Disease, Bethesda, Maryland, (MD) USA. Maryland: .U.S. Institutes on Health.

Kagnoff, M. F. (2004). Overview and Pathogenesis of Celiac Disease. In: U.S. Institutes on Health Consensus Development Conference on Celiac Disease, Bethesda, Maryland, (MD) USA. Maryland: .U.S. Institutes on Health

Lemkin, J. (2003). The Emerging Role of Nutritional Supplementation in Celiac Disease. Shelburne Falls, MA : Pioneer Health Education Library [PDF]. Available at: <http://www.pioneernutritional.com/literature/health_ed_library.html> [Accessed 21 September 2010]

Loftus, C. G. and Murray, J. A. (2010.) Celiac Disease. Bethesda, MD: The American College of Gastroenterology. [PDF] Available at <http://www.acg.gi.org/patients/gihealth/pdf/celiac.pdf> [Accessed 24 September 2010]

Mäki, M. et al., Prevalence of Celiac Disease among Children in Finland. The New England Journal of Medicine 348 (25) pp. 2517 – 2518

National Digestive Diseases Information Clearinghouse. 2008. Celiac Disease. Bethesda, MD: U.S. National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, U. S. Department of Health and Human Services. [PDF]. Available at <http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/index.htm> [Accessed 23 September 2010]

Rewers, M. J. (2004) Epidemiology of Celiac Disease: What Are the Prevalence,

Incidence, and Progression of Celiac Disease?. In: U.S. Institutes on Health Consensus Development Conference on Celiac Disease, Bethesda, Maryland, (MD) USA. Maryland: .U.S. Institutes on Health.

Rodrigo L. (2006) Celiac disease. World Journal of Gastroenterology, 12(41) pp. 6585-6586

Rostom, A. (2004) Serological Testing for Celiac Disease. In: U.S. Institutes on Health Consensus Development Conference on Celiac Disease, Bethesda, Maryland, (MD) USA. Maryland: .U.S. Institutes on Health.

University of Chicago. (n.d) Celiac Disease. [PDF] Available at <http://www.celiacdisease.net/> [Accessed 22 September 2010]

Ward, E. 2005. Gluten Intolerance: Against the Grain (Do wheat products cause intestinal trouble? Try these tips for a gluten-free diet.), [Internet] Available at <http://www.webmd.com/digestive-disorders/celiac-disease/features/gluten-intolerance-against-grain> [Accessed 22 September 2010]

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