coeliac disease corrected
TRANSCRIPT
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Coeliac Disease 1
Journey down the bowel: a look at the Coeliac (Celiac) Disease
Noel Sales Barcelona
© 2010 – 2050
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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
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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).
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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).
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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.
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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).
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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
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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
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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
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• 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).
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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:
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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).
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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
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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).
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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]
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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
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<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]