CASE REPORT
CELIAC DISEASE/GLUTEN INTOLERANCE
Donald R. Counts, MD,1# and Victor S. Sierpina, MD2
INTRODUCTION
Celiac disease, also known as celiac sprue and gluten-sensitivity
enteropathy, is an autoimmune-mediated disease. It causes in-
flammation of the small intestine and leads to numerous ab-
dominal as well as nongastrointestinal symptoms. Patients with
celiac disease have a genetically inherited intolerance to storage
proteins present in wheat, barley, and rye.1 Previously thought to
be a relatively rare condition, a recent hearing by the National
Institutes of Health consensus panel on the condition has con-
cluded that the condition is under diagnosed and is estimated to
affect between 0.5% and 1% (up to three million individuals) of
the US population.2 These new figures are 10 times higher than
previous estimates, with celiac disease affecting 1 in every 120
persons, making it one of the most common genetic disorders.3
Because symptoms of celiac disease are varied or silent, diag-
nosis can be substantially delayed, with the average time to
diagnosis being 11 years.2 The following case represents a com-
mon presentation that illustrates the challenges of reaching a
timely and correct diagnosis.
CASE PRESENTATION
The patient is a 37-year-old white female who presented for a
consultation with complaints of intermittent abdominal cramp-
ing, distension, and diarrhea for several years, all of which had
become more acute over the past several months. She gave a
history of having been diagnosed with irritable bowel syndrome
(IBS) by a physician several years earlier. Although she was
known to be lactose intolerant for several years, she had not
remained on a dairy-restricted diet. Other symptoms of interest
were premenstrual syndrome with severe abdominal cramps,
allergic rhinitis, and eczema of the left elbow. She had also been
diagnosed with clinical depression and was currently taking ne-
fazodone, prescribed by a psychiatrist.
The patient was being treated by a local physician for allergic
rhinitis with loratadine; for fatigue with thyroid glandular ex-
tract, 60 mg; and for symptoms of premenstrual syndrome with
sublingual estrone and estradiol and estriol (Tri-est), testoster-
one, and progesterone. The patient was also followed by a colo-
rectal physician, who prescribed glycopyrrolate twice daily and
doxepine, 10 mg, at night for the IBS, with no perceived benefit.
The patient’s social history revealed that she was working, mar-
ried, and childless. She did not use tobacco products and drank
wine socially twice weekly. The patient was adopted and has no
knowledge of her ancestry. The patient’s physical examination was
1 Preventative Family Practice and Integrative Medicine, Austin, TX.
2 Family Medicine, University of Texas Medical Branch, Galveston, TX.
# Corresponding author. Address:
2905 San Gabriel St, Suite 306, Austin, TX, 78705.
e-mail: drc@drcounts.com
© 2006 by Elsevier Inc. Printed in the United States. All Rights Reserved
ISSN 1550-8307/06/$32.00
normal, except for one small isolated area of eczema on the exten-
sor surface of the left elbow.
The patient’s laboratory results were unremarkable, except for
an elevated antigliadin IgG of 107 units (normal, ⬍20), an ele-
vated antigliadin IgA of 95 (normal, ⬍20) and a suppressed
thyrotropin (TSH) of less than 0.1 UIU/dL. The thyroid, Tri-est,
and progesterone supplementation were discontinued. Based on
the results of the antigliadin assays, a discussion about gluten
sensitivity and the need for a gluten-free approach to food con-
sumption was initiated. Although the patient was reluctant to
adopt a gluten-free diet and declined an offer for a consult with
a registered dietician/nutritionist, she did agree to a lactose-free
diet to monitor her response to this dietary modification. Per my
recommendation, she also agreed to try Vitex (chastetree berry)
for the premenstrual symptoms and flaxseed/borage oil gel cap-
sules for the eczema.
On a subsequent visit, she reported relief from the premen-
strual symptoms and the eczema but was having difficulties
adhering to the dietary suggestions. The patient desired to dis-
continue the Serzone because of the recent black box warnings.
She was referred for psychological testing, which confirmed the
diagnosis of major depression. A consulting psychiatrist pre-
scribed Wellbutrin, and the patient agreed to combine cognitive
behavioral therapy with the medication.
Several months later, she presented with diarrhea (15 stools/day),
abdominal cramping, and distension. The patient was referred to a
gastroenterologist. Esophagogastroduodenoscopy and colonos-
copy were performed, with duodenal biopsies revealing villous
blunting, intraepithelial lymphocytes, and chronic inflammation.
These were consistent with a diagnosis of celiac disease. Antibody
testing revealed a tissue transglutaminase (tTG) IgG and a tTG IgA
of 8.0 and 13.3, respectively (normal. ⬍10 for both). A dual energy
x-ray absorptiometry scan was also performed and was normal,
ruling out osteoporosis.
At this point, the patient, having become more aware of the
severity of her condition, began following a gluten-free, lactose-free
diet, with gratifying results. The patient noticed immediate im-
provement in her symptoms of diarrhea, from 15 stools a day to a
normal pattern without abdominal distention. She has also become
aware of the importance of diet and her overall well-being.
TYPICAL PRESENTATION
Symptoms of celiac disease occur when dietary proteins in
wheat, barley, and rye are ingested by susceptible patients, acti-
vating an abnormal mucosal immune response that damages the
small intestine by inducing chronic inflammation.
The most common gastrointestinal (GI) symptoms of celiac dis-
ease include diarrhea, weight loss, vomiting, abdominal pain (with
or without distention), anorexia, and constipation. The most com-
mon non-GI symptoms include iron-deficiency anemia (up to 5%
of celiac patients are anemic),4 failure to grow, short stature, delayed
EXPLORE January 2006, Vol. 2, No. 1 43
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Table 1. Subphenotypes of Celiac Disease
Subphenotype Comments
Classic celiac disease Dominated by symptoms and sequelae of GI malabsorption. The diagnosis is established
by serologic testing, biopsy evidence of villous atrophy, and improvement of
symptoms on a gluten-free diet.
Celiac disease with atypical symptoms Few or no GI symptoms, extraintestinal symptoms predominate. May be most common
manifestation of the disease.
Silent celiac disease Patients are asymptomatic but have a positive serologic test and villous atrophy on
biopsy. Usually diagnosed during screening of persons of high risk for the disorder.
Latent celiac disease Defined by a positive serology but no villous atrophy on biopsy. These persons are
asymptomatic but are at increased risk for later development of symptoms and/or
histologic changes.

puberty, infertility, recurrent fetal loss, osteoporosis, vitamin defi-
ciencies, fatigue, protein-calorie malnutrition, recurrent aphthous
stomatitis, elevated transaminase levels, and dental enamel hy-
poplasia. The presence of obesity does not preclude a diagnosis of
celiac disease.5 Several neuropsychiatric conditions have been re-
ported to accompany celiac disease, including depression, anxiety,
ataxia, seizures, peripheral neuropathies, and migraines.
ATYPICAL PRESENTATION
Several symptoms that may present in atypical cases include
dermatitis herpetiformis, alopecia areata, male impotence, recur-
rent oral ulcers, chronic fatigue, hypoglycemia, vitamin B-12
and /or folate deficiency, osteopenia, and ataxia.6
DIAGNOSIS
A vital step in considering the diagnosis of celiac disease (Table 1) is
to recognize the diverse clinical features of this condition. A num-
ber of serological tests can be used to screen for celiac disease and to
monitor for patient adherence to the gluten-free diet. IgG or IgA
antigliadin antibodies are present in over 90% of patients with celiac
sprue but are elevated also in other mucosal diseases, making the
specificity of these tests (80%-90%) relatively low. IgA endomysial
antibody and IgA anti-tTG antibody tests were originally reported
to have 90% to 98% sensitivity and ⬎95% specificity for the diag-
nosis of celiac disease; however, recent studies suggest that the
sensitivity is lower in patients with mild disease. Because no single
test has sufficient sensitivity and specificity, a combination of two
tests is recommended when screening patients at low to moderate
risk of celiac disease. Because up to 3% of celiac disease patients
have IgA deficiency, an IgA level should be obtained.7 Testing for
IgG antigliadin is necessary for the subset of patients with IgA
deficiency. Levels of IgA antigliadin, antiendomysial, and anti-tTG
antibodies become undetectable after six to 12 months of dietary
gluten withdrawal and may be used to monitor dietary compliance.
All diagnostic tests should be performed while the patient is on a
gluten-containing diet to prevent false-negative results. Serological
testing in children less than five years of age may be even less reliable.
Multiple biopsies of the second part of the small intestine are
indicated in patients with positive antibody tests, except in those
with a biopsy-proven dermatitis herpetiformis. With positive
serology and a biopsy confirmation, a presumptive diagnosis of
celiac disease can be made. Definitive diagnosis is confirmed
with the resolution of symptoms on a gluten-free diet.
In a patient with suggestive symptoms and negative serology,
three possibilities exist:
● The patient may have a selective IgA deficiency and if con-
firmed an IgG-tTG or IgG-endomyosial antibodies test should
be performed.
● The serological test may be a “false negative,” and the test may
be repeated, or a genetic screen may be conducted or a small
intestinal biopsy could be performed.
● The patient may not have celiac disease and IBS or another
diagnosis must be considered likely.
● When the diagnosis is uncertain, testing for genetic markers
via serum or mucosal swabs can help with the diagnosis. Nine-
ty-seven percent of patients who have celiac disease have a
DQ2 or DQ 8 HLA haplotype genetic marker. The absence of
these two genetic markers has a high negative predictive
value.8
TREATMENT
Treatment should be initiated only after the diagnostic evalua-
tion, including serology and biopsies, has been completed. The
patient should be counseled on the importance of adherence to
a gluten-free diet for life. Such a diet excludes wheat, barley, and
rye because these grains contain the storage proteins or peptides:
gliadin (wheat), hordein (barley), and secalin (rye), which are
known to cause celiac disease. Oats are gluten free but are con-
taminated with gluten during harvesting, milling, and processing
and should be avoided as well.9,10 Most patients have a rapid
clinical response, within two weeks, after beginning a gluten-free
diet.11 Patient education about celiac disease and about how to
identify gluten-containing products is a critical component of
effective treatment.
Celiac disease is often associated with deficiencies in iron,
calcium, phosphorus, folate, vitamin B-12, and fat-soluble vita-
mins; therefore, vitamin supplementation should be imple-
mented if appropriate. Patients should also be screened for os-
teoporosis because this is a common complication of celiac.

44 EXPLORE January 2006, Vol. 2, No. 1 Celiac Disease/Gluten Intolerance

 To summarize, key elements in the management of patients
with celiac disease are as follows:
● Consultation with a skilled dietitian;
● education about the disease;
● lifelong adherence to a gluten-free diet;
● identification and treatment of nutritional deficiencies;
● access to advocacy group; and
● continuous long-term follow-up by a multidisciplinary team.
SPECIAL CONSIDERATIONS
Malignant Diseases
Malignant diseases that are more frequent in patients with celiac
include small-bowel adenocarcinoma, esphogeal and oropha-
ryngeal squamous carcinoma, and non-Hodgkin’s lymphoma
(moderate risk factor for all listed). Patients with celiac disease
have a risk of small-bowel adenocarcinoma that is 80-fold greater
than that of the general population. A gluten-free diet is thought
to be protective from malignant disease.9
Osteoporosis
Osteoporosis is common in adults and children with celiac disease.
The reduction in bone density is more severe in symptomatic dis-
ease than in the silent form and is associated with an increased risk
of fracture. Bone mineral density improves after starting a gluten-
free diet but may not return to the normal range. The mechanism is
multifactorial and may include calcium malabsorption, secondary
hyperparathyroidism, vitamin D malabsorption, and magnesium
deficiency.
Fertility
Celiac disease is associated with delayed menarche, premature
menopause, amenorrhea, recurrent abortions, and reduced fre-
quency of intercourse secondary to pain. Patients with celiac
disease are reported to have infants with low birth weight and
increased perinatal mortality. Adherence to a gluten-free diet is
associated with a reduction in these outcomes.9
Undiagnosed celiac disease is often detected in infertile
women who are screened for the disease. Infertility in men is also
associated with celiac disease, and men with celiac disease tend
to have children with a shorter gestation and lower birth weight
than those without the disease.
Autoimmune Disorders
Whether celiac disease is an inflammatory disorder with secondary
autoimmune reactions or whether it is primary autoimmune dis-
ease is unknown. Autoimmune disorders are ten times more likely
to occur in patients with celiac disease than in the general popula-
tion. Such disorders include insulin-dependent diabetes, thyroid
disease, Sjögren’s syndrome, Addison’s disease, autoimmune liver
disease, cardiomyopathy, and neurological disorders. When both
autoimmune disease and celiac disease occur in a patient, celiac
disease is usually silent, and the autoimmune disorder is diagnosed
first. Some data suggest that the prevalence of autoimmune diseases
are related to the duration of gluten exposure and may improve on
a gluten-free diet.9
Celiac Disease/Gluten Intolerance
CONCLUSIONS
There are several learning points to be considered from this case.
First is that this patient, like many others, was not willing to change
her pattern of eating until an acute crisis made her aware of the
necessity of a gluten-free diet. Second is the delay in diagnosis: she
had many of the typical symptoms of celiac disease but remained
undiagnosed for several years, which is not uncommon. Consider-
ing the diagnosis and ordering the appropriate serological tests can
save patients years of pain and discomfort. Patients who present
with typical symptoms of celiac disease often will be told that they
have IBS, and many do have this diagnosis. However, they should
be screened for celiac disease before a diagnosis of IBS is made.
Screening for genetic haplotypes can be of importance in making
an earlier diagnosis, especially in equivocal cases. Often securing
insurance coverage for genetic testing can be difficult. The labora-
tories that provide genetic screening that this author (D.C.) has used
are listed in the resource section.
Celiac disease is a common disorder that often presents in a
silent or nonclassical form. The recent National Institutes of
Health conference on celiac disease has recommended that phy-
sicians improve their awareness of the myriad of symptoms that
compose celiac disease.5
RESOURCES
Celiac Sprue Association/United States of America, Inc., P.O.
Box 31700, Omaha, NE 68131-0700. Telephone: 402-558-0600.
Fax: 402-558-1347. Web site: www.csacs@csaceliacs.org.
Prometheus Laboratories, 5739 Pacific Center Blvd., San Di-
ego, CA 92121. Telephone: 888-423-5227. Fax: 858-824-0896.
Web site: www.prometheuslabs.com. (Provides serological and a
reflex genetic screening.)
Enterolab. Telephone: 972-686-6869. Web site: http://www.
enterolab.com. (Provides stool antigen and genetic screening.)
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