Senior Honors Project
Case Study
Celiac Disease: Its All in the Family
Rachel Day
Spring Semester 2011
Table of Contents
Section:
Page #
Pathophysiology
2-6
Treatment
6-10
Medical Nutrition Therapy Standards
11
Summary
12
References
13
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Pathophysiology, Celiac Disease:
Celiac disease (CD) is an auto-immune mediated response characterized by
intolerance to gluten which persists through the lifetime and is linked to a genetic
component (1). Characteristically, the small intestine is inflamed in the presence of
gluten which is a protein found in wheat, rye, and barley (1, 2). Patients frequently
present with symptoms such as diarrhea, abdominal distention, and failure to thrive (3).
With recent years seeing a drastic increase in the incidence of celiac disease diagnosis,
the research community has sought to clarify CD in an effort to better understand the
cause, symptomology, and treatment with a focus on familial history and long-term
adherence to a gluten-free diet (GFD).
Most often, patients present with symptoms in early childhood although diagnosis
does not take place for some until later in life. CD has been diagnosed in more than two
million Americans or one in every 133 people and studies suggest that the actual number
of persons who have CD is much higher (4). There is a very strong genetic correlation
associated with CD which can been shown in statistical familial prevalence. One in 22
Americans, having a first-degree relative with CD, will also have CD (4). If the family
member is a second-degree relative, such as a cousin or an aunt, the prevalence of CD is
One in 39 (4). Such strong associations within the family have lead medical
professionals and researchers to begin familial screening for CD.
Understanding CD requires a basic knowledge of the function of the small bowel,
the portion of the body that is affected by the disease. The small intestine serves the
primary role in digestion of nutrients and water (5). Composed of three parts, the
duodenum, jejunum, and ileum, the small intestine is greater than 21 feet long in an adult
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(5). The small intestine has folds, valvulae conniventes, which are covered in villi (5).
The villi are then covered with microvilli which create a brush-like border throughout the
entire vessel, creating an expansive surface area for absorption (5). This absorptive
surface area sits on a platform of blood vessels and lymphatic tissue referred to as the
lamina propria which receives all the absorbed materials (5).
Food and the acidic chyme from the stomach enter the duodenum, mixing with
duodenal juices and pancreatic enzymes which serve to neutralize the pH of the contents,
facilitating more effective digestion and absorption (5). The presence of partially
digested food in the small intestine stimulates the production and release of bile salts by
the liver and gall bladder (5). Bile salts work to facilitate the digestion and absorption of
lipids (5). With the help of pancreatic lipase and proteolytic enzymes secreted by the
pancreas, food is broken down until the microvilli are able to further break down the
molecules for digestion (5). This process takes place in approximately three to eight
hours or at a rate of one cm per minute until the undigested contents pass through the
ileocecal valve into the colon for expulsion from the body (5). A well functioning small
intestine will absorb far more than needed to sustain the average person.
For a person diagnosed with Celiac Disease their small intestine does not function
in a manner that allows for the normal digestion of the protein gluten. A genetically
predisposed person expresses DQ2 and DQ8 haplotypes, a set of closely linked genetic
markers, in the presence of gluten peptides, which are resistant to digestive enzymes (5).
These gluten peptides cause the production of cytokines which are responsible for the
initiation of the inflammatory process (1, 5). In the continued presence of gluten, this
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inflammation will lead to atrophy of the villi, malabsorption, malnutrition, and
malignancy (5).
Prior to diagnosis of CD, a person can experience a variety of symptoms and each
person reacts to CD differently. Because of the variance from person to person in
symptoms and presentation, diagnosis is often quite difficult. CD may become apparent
when gluten is introduced into the diet during infancy or may not be diagnosed until early
to late adulthood. Common symptoms, otherwise referred to as “classic” CD symptoms,
are diarrhea, steatorrhea, odorous stools, bloating of the abdomen, and failure to thrive
which were typically the hallmark presentations for children (3, 5). More recently,
researchers have found that a variety of other symptoms may indeed indicate the presence
of CD which include but are not limited to irritability, anorexia, constipation, abdominal
pain, anemia, vomiting, and shortness of stature (3). In a Grecian study aimed to provide
a guide to symptoms of CD, they found that in a retrospective analysis of patient
presentation from 1978 to 1998 all of the patients had gut-related symptoms such as
bloating, diarrhea, abdominal pain, etc. but after 1998, 23% of their patients did not
report a single gut-related symptom (3). A retrospective study done by European
researchers on children with diagnosed with CD showed that 100% of their 50 patients
presented with failure to thrive, 84% with chronic diarrhea, 8% with anemia, and 6%
were short in stature (1). Additional research has shown that the number of patients
presenting with classical symptoms (diarrhea and failure to thrive) has decreased from
67% to 19% (6). To complicate matters even more, up to 50% of patients with CD have
few or no obvious symptoms and could possibly even be overweight at presentation (5).
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Because CD can often be masked in ways that are not believed to be “classic” symptoms
or may be silent, diagnosis for some may take years (3).
Currently, CD diagnosis is done through multiple methods. Screening for family
history and possible indicators of CD is available as a method of preliminary testing.
Following screening, serological testing or a duodenal biopsy could be performed (1, 6).
Celiac Disease has a genetic basis with encoding on specific DNA alleles for DQ2 and
DQ8 specifically, which are required to be present for classical CD (1, 6). Typically,
with the diagnosis of one family member, relatives should seek testing to determine
additional diagnosis. Following the blood draw and serological screening, if a person
tests positive, he or she should undergo an endoscopic duodenal biopsy to determine if
changes in villi and mucosal lining are present (1). An Indian study of families with CD
members found that of 164 participants, 125 members showed seropositivity (alleles
required for CD) and of the 30 who had biopsies: 20 were asymptomatic yet showed
villous atrophy which is caused by gluten sensitivity and 10 participants had experienced
symptoms without knowledge of the possibility of CD diagnosis (1). It can be inferred,
that without symptoms, a person could continue consuming gluten yet wreaking havoc on
their intestines and in such cases, serological testing is necessary due to family history of
CD. With the onset of serological testing, which began in the late 1990’s, researchers
report nearly triple the incidence of CD (6). For families with a member that has been
diagnosed with CD, serological testing of the whole family should be performed for
possible early treatment.
Genetics are the basis for CD and researchers are attempting to further narrow
down the environmental risk factors associated with CD. Celiac disease is an
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autoimmune-mediated response caused by the presence of genetically linked haplotypes
although for some people, even with the presence of these haplotypes, CD remains
dormant until some sort of environmental or physical stressor triggers CD expression (5).
Currently, causes such as stress, pregnancy, or infection can trigger the autoimmune
function which is why many patients do not present with symptoms of CD until
adulthood (1, 3). Medical professionals are also encouraged to screen patients with other
autoimmune disorders like type 1 diabetes, thyroid disease, dermatitis herpetiformis
(similar to celiac disease with inflammatory reaction on skin), and rheumatoid arthritis
for CD (1, 3, 5). Additionally, numerous studies have found a higher prevalence of CD
in women than in men although the reasoning behind such findings remains unknown (3,
7, 8). Researchers are proposing that female sex hormones may play a role in
autoimmunity (3). While the research is still unclear on the risk factors and triggers for
CD, genetics play a well-known role in the development of CD, but for those with
persistent symptoms reminiscent of CD, familial history of CD and autoimmune
disorders, they should seek medical guidance immediately (1, 3, 5).
Treatment, Celiac Disease:
There are very few known methods of treatment for CD. At this time the most
successful and research-supported method for CD recovery is for patients to follow a
gluten free diet (GFD). For some patients a change in diet is not enough. They also
require medications to suppress the autoimmune inflammatory response and continuation
of medicinal treatment in addition to a GFD is necessary for small bowel recovery (5).
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Gluten, a storage protein found in wheat, rye, and barley, is also commonly used
as an emulsifier in many processed foods (2). Removal of gluten from the diet is a
difficult task since many food items that an average person eats on a daily basis,
unknowingly contain gluten. Breads, pastas, cereals, baked goods, malted and barleybrewed drinks are commonly consumed by most and made with gluten-rich flours. In
addition to these obvious sources of gluten, there are other food items made with gluten
such as communion wafers, self-basting poultry, soup bases, soy sauces, thickeners, deli
meats, salad dressing, potato chips, instant coffee, some chocolate, some supplements and
pharmaceutical medications, and condiments (5). Gluten is used as an emulsifier
(stabilizer), a filler, and a secondary ingredient in many foods (5).
While attaining a diet that is completely void of the presence of gluten would be
ideal, persons diagnosed with CD are encouraged to limit their gluten consumption to 1030ppm (parts per million) daily (9). An average slice of bread contains 2,500ppm gluten
with variance dependent on composition (9). For each person tolerance to trace amounts
of gluten varies and may be seen in symptomatic displays or silent intestinal damage (2,
3, 4). Gluten in small amounts may be present due to contamination during food
processing or preparation which makes label reading and general food preparation
knowledge essential (9).
In 2004 the Food Allergen Labeling and Consumer Protection Act was passed
into law to decrease the number of labeling issues consumers experience and to clearly
define the term gluten free. Previously, there was no government regulation for the
definition of the term gluten free but now the item is required to be made without wheat,
rye, or barley, be free of ingredients containing and derived the aforementioned (9). This
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law has a great impact on persons with CD because it requires that if a food has proteins
derived from wheat (such as gluten), it must clearly state on the label the word, “wheat”
(10). If ingredients such as dextrin, colorings, maltodextrin, modified starch, spices,
flavorings, hydrolyzed vegetable product, or additives (otherwise unspecified) are made
from wheat, there must be a statement on the packaging that identifies these products
(10). Such legislation will benefit those suffering from CD.
A GFD will require adept knowledge of food labels and avoidance of many foods
that were previously consumed. Presently, two separate organizations have created
programs to police the food industry, creating seals to denote products which meet their
criteria for gluten free. The Celiac Sprue Association Seal is placed on food items after
reviewing ingredients and testing to product to verify that the product is free of wheat,
rye, oats, and barley (9). The Gluten Free Certification Organization tests each product,
placing a seal on products which contain less than 10ppm or gluten (9). With the help of
such organizations, food industries are able to correctly market their foods which creates
a better purchasing environment for those seeking to follow a GFD.
For patients in a family setting, such as those with small children, this may require
a familial change in food consumption in order to maximize compliance in both the home
and social arenas. At home, food preparation and storage are of major concern in regards
to contamination and compliance. For families with non gluten free foods present,
preparing gluten free meals prior to preparation of gluten-containing foods would be
beneficial. Keeping gluten free foods separate in storage areas is also a necessity. In
social settings, meal times at school and restaurants require planning. Young children
eating school lunches may need to carefully assess the menu prior to food selection; the
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child may benefit from general knowledge of gluten free foods. Preparing gluten free
snacks and meals from home may increase compliance. Those with CD may find that
eating at restaurants is difficult. Looking at menus prior to eating out, speaking with the
chef in regards to contamination and cooking practices may be helpful.
Complete adherence to a GFD has allowed for prompt reversal of clinical
manifestations such as small bowel irritation, failure to thrive, and additional symptoms
such as diarrhea, constipation, and abdominal pain in most patients but is believed to be
case specific (5,11). Some patients do not begin to have bowel recovery for months after
GFD initiation (5). Slow and incomplete bowel recovery, could be related to prolonged
diagnosis and lack of compliance with a GFD (11).
In light of the increased knowledge of CD a great deal of controversy has arisen
surrounding infant feeding practices with respect to development and severity of the
onset of CD, as well as the concern for allowance of oat consumption and possible
absorption-related health complications.
A recent Serbian study sought to investigate the feeding practices followed by
patients diagnosed with CD. Through a review of medical records of 89 infants, their
outcome was quite surprising. Their research suggests that the timing of gluten
introduction does not affect the onset and diagnosis of CD (12). For patients that were
introduced to gluten prior to four months of age, they were diagnosed within a similar
time frame or age, as those who did not consume gluten until four to six months of age
(12). Additionally, their research suggests that breastfeeding during gluten introduction
and the continuation of breastfeeding, delayed the onset of CD (12). The research did
confirm that neither timing nor breastfeeding affect the severity of the disease (12).
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Following a GFD is unquestionably difficult with so many conflicting sources
touting ill-researched claims. Arguably, one of the most contentious items of note is the
presence of oats in a GFD. It is believed that oats only contain gluten due to
contamination during processing and should be incorporated into the diet if tolerated or
processed on machinery separate from gluten-containing products(2). A Finnish group of
researchers studied the long term affects of oats in the diet of diagnosed CD children.
Thirty-two children were involved in a two year controlled trial after which a follow-up
was completed after seven years (13). Their investigation found that for children in a
state of remission or lacking in symptomology related to CD, 86% were able to consume
oats without ill effect (13). For most CD patients, inclusion of oats in a GFD is
groundbreaking.
For patients who remained undiagnosed until adulthood or do not adhere to a
strict GFD, the mucosal lining in the small intestine can become irritated causing
eventual loss of villi leading to malabsoprtion of vitamins and minerals such as calcium,
vitamin D, and iron (2). Due to the increasing number of adult diagnosis of CD, there is
greater incidence for prolonged malnutrition and irreversible intestinal damage (2). For
patients with such complications or those neglectful of the GFD, manifestations such as
anemia, vitamin D deficiencies, hypocalcemia, and bone mineral loss frequently occur
(2). Institution of GFD often causes greater absorption of dietary vitamins and minerals
which for children can lead to complete bone recovery, but adults may never rebound
placing them at higher risk for osteoporosis and bone fracture (2). As a result of intense
research, supplementation, in addition to a GFD, would serve as a benefit to those
diagnosed with CD at any stage of life (2).
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Medical Nutrition Therapy Standards of Practice for Celiac Disease:
Persons diagnosed with CD, should consult with a dietitian regarding adoption of
a GFD and sustainability (14). In addition to a GFD, there are many other concerns that
have been brought to light through the implementation of nutrition therapy standards of
care. Close monitoring of the eating habits is necessary for at a minimum, the first few
years of GFD adoption in order to ensure dietary adequacy. Prolonged exposure to
gluten for a patient with CD will cause decrease vitamin, mineral, macronutrient, and
water absorption due to villi atrophy (5). Of concern for those with CD are iron, calcium,
fiber, and B-vitamins because many of the gluten-free foods that have been developed are
not enriched with these nutrients (14). Calcium is a unique concern for some patients
with CD because in the presence of damaged mucosa there is often a decrease in the
enzyme lactase which is required for lactose (a milk protein, a main source of calcium)
digestion (5, 14). In such cases, the patients develop a form of lactose intolerance in
which they cannot consume lactose-containing products which are rich sources of
calcium and vitamin D. With intestinal recovery, most often lactose intolerance will
resolve but until then, the patients are encouraged to follow a gluten and lactose-free diet
(14). For these patients, nutrition education on dietary sources of calcium and vitamin D
is necessary, as well as the recommendation for a supplementation (14).
Education on the importance of dietary choices should encourage the
consumption of gluten-free grains depending on energy expenditure, choosing of glutenfree foods that are enriched (whenever possible) and made of plant sources for higher
fiber intake, and the use of a multi-vitamin or mineral which is gluten-free (14).
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Summary
With the discovery of a strong genetic component in the development of CD and a
better understanding of new clinical presentation symptoms, diagnosis of CD will come
sooner to the actual onset of symptoms, in the hope of decreasing intestinal damage and
other possible medical manifestations. While the core treatment remains a GFD, the
continued investigation and vast clinical knowledge of researchers and practitioners alike
will serve as a benefit to those who face lifelong gluten intolerance. Governmental
legislature alongside the work of CD organizations continues to aim to reduce the
confusion surrounding food labeling to increase compliance to a GFD. All of these steps
in tandem will lead to a healthier outlook for those with CD.
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References:
1. Thapa BR, Rawal P, Vaiphei K, Nain CK, Singh K. Familial prevalence of celiac
disease. J Trop Pediatr. 2011; 57: 45-57.
2. Capriles VD, Martini LA, Areas JAG. Metabolic osteopathy in celiac disease:
importance of a gluten-free diet. Nutr Clin Care. 2009; 67: 599-606.
3. Roma E, Panayiotou J, Karantana H, Constantinidou C, Siakavellas S, Krini M,
Syriopoulou VP, Bamias G. Changing pattern in the clinical presentation of
pediatric celiac disease: a 30-year study. Digestion.2009; 80: 185-191.
4. Fasano A, Berti I, Gerarduzzi T, et al. Prevalence of celiac disease in at-risk and
not-at-risk groups in the United States. Arch Intern Med. 2003; 163(3):268–292.
5. Mahan LK, Escott-Stump S. Krause’s Food and Nutrition Therapy. St. Louis,
Missouri. 2008: 681-686
6. McGowan KE, Castiglione DA, Butzner JD. The changing face of childhood
celiac disease in north America: impact of serological testing. Pediatrics. 2009;
124: 1572-1578.
7. Ivarsson A, Persson LA, Nystrom L, Hernell O. The Swedish celiac disease
epidemic with a prevailing twofold higher risk in girls compared to boys may
reflect gender-specific risk factors. Eur J Epidemiol. 2003; 18: 677-684.
8. Hoffenberg EJ, MacKenzie T, Barriga KJ, Eisenbarth GS, Bao F, Haas JE, Erlich
H, Bugawan TL, Sokol RJ, Taki I, Norris JM, Rewers M. A prospective study of
the incidencec of childhood celiac diease. J Pediatr. 2003; 143: 380-314.
9. Thompson T, Mendez E. Commercial assays to assess gluten content of glutenfree foods: why they are not created equal. J AM Diet Assoc. 2008; 108: 16821687.
10. U.S. Department of Health and Human Serives. Food Allergen Labeling and
Consumer Protection Act of 2004. Available at:
http://www.fda.gov/food/labelingnutrition/FoodAllergensLabeling/GuidanceCom
plianceRegulatoryInformation/ucm106187.htm Accessed on: April 1st, 2011.
11. Yachha SK, Srivastava A, Mohindra S, Krishnani N, Aggarwal R, Saxena A.
Effect of a gluten-free diet on growth and small-bowel histology in children with
celiac disease in India. J Gastroenterol Hepatol. 2007; 22: 1300-1305.
12. Radlovic NP, Mladenovic MM, Lekovic ZM, Stojsic ZM, Radlovic VN.
Influence of early feeding practices on celiac disease in infants. Clinical Sciences.
2010; 51: 417.
13. Holm K, Maki M, Vuolteenaho N, Mustalahti K, Ashorn M, Ruuska T. Oats in
the treatment of childhood celiac disease: a 2-year controlled trial and long-term
clinical follow-up study. Aliment Pharmacol Ther. 2006; 23: 1463-1472.
14. American Dietetic Association. Manual of clinical dietetics. 6th edition.
Available at: www.nutritioncaremanual.org. Accessed April 1st, 2011.
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