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Celiac Disease:
Case Studies
Case 1:
Background
• 75-year-old female diagnosed with celiac disease 6 years
ago
– Symptoms included bloating, gas, fatigue and diarrhea
• At the time of diagnosis, EMA was markedly positive and
she was also found to have mild iron deficiency anemia
• Duodenal biopsies
p
revealed increased intraepithelial
p
lymphocytes and villous atrophy consistent with celiac
disease
• She p
proceeded to go
g on a gluten-free
g
diet at that time
– Gastrointestinal symptoms improved over the first six months
– Anemia normalized over the first year and EMA titer decreased markedly
– Colonoscopy done at the time of endoscopy was normal
• PMH:
PMH GERD
GERD, h
hypertension,
pertension osteopenia,
osteopenia hypothyroidism
h poth roidism
Case 1:
Current Presentation
• Patient followed a strict gluten-free diet and had done
well over the past 6 years
– Reported occasional diarrhea and abdominal pain with accidental gluten
exposure
• Over the past 6 months, she began to note a return of
symptoms
y p
including
g diarrhea,, bloating
g and fatigue
g
– No weight loss or significant dietary changes reported
• Physical exam and review of systems were unremarkable
Case 1:
Differential Diagnosis
• Patient presenting with non-responsive celiac disease
• Differential for this is broad and includes: gluten
exposure IBS,
exposure,
IBS refractory celiac disease
disease, small intestinal
bacterial overgrowth, food intolerances, microscopic
colitis among others
– However specific factors can make evaluation more efficient
• Onset after prolonged remission makes food intolerances
unlikely
• Sudden onset at advanced age makes IBS unlikely
• Lack of weight loss argues against refractory celiac
disease
Case 1:
Evaluation
• Most likely etiologies include gluten exposure, small
intestinal bacterial overgrowth or microscopic colitis
– Refractory celiac disease and other diagnoses were possible, but less probable
• Diagnosis began with basic labs including a CBC, tTG,
TSH, and iron studies
• Patient
P ti t also
l referred
f
d to
t a dietician
di ti i specializing
i li i
in
i celiac
li
disease
Case 1:
Results of Initial Work-up
• Laboratory results
–
–
–
–
CBC notable for mild microcytic anemia HCT 34, MCV 78
Ferritin was low at 10
TSH was mildly elevated at 5.2
tTG was markedly elevated at 74 (normal <20)
• Dietician evaluation
– No obvious sources of dietary gluten
– Patient was taking a number of generic medications with an unknown gluten
status
– Recommended
R
d d tto see if any off th
these might
i ht contain
t i gluten
l t
Case 1:
Outcome
•
Working with her pharmacist, patient learned that her GERD
medication and one of her hypertension medications were generic and
had recently switched manufacturers
– Medications changed to gluten-free alternatives
•
With this change, symptoms slowly improved over the next 6 weeks
•
p visit three months later,, her tTG had decreased to 38
At a follow up
and hematocrit showed signs of improvement
Case 2:
Introduction
• 33-year-old male
– 14-year history of type 1 diabetes
– Treated with infused insulin therapy
py
– Hemoglobin A1c (A1C) level ranged between 7.0 -7.5%
• History of anxiety disorder and tobacco use
• Denies alcohol use
Case 2:
Presentation
• Complaints during a recent clinic visit included
– Slow 20 lb weight loss over previous 12 months
– Postprandial
p
bloating
g
– Early satiety, but no diarrhea
• Denied changes in diet, exercise, bowel movements,
nausea,
ausea, fever,
e e , night
g t sweating,
s eat g, lightheadedness,
g t eaded ess, s
skin
hyperpigmentation, or dizziness after standing
Case 2:
Examination
• Physical examination
– Thin, well-nourished
– No g
goiter, ophthalmopathy,
p
p y hyperhidrosis,
yp
or tremor
• Laboratory test results
–
–
–
–
–
Hct, Hb, Cr, K+, Na: normal
No evidence of iron deficiencyy anemia
Liver function tests: normal
Vitamin B12, folate, and calcium: normal
Thyroid tests: morning cortisol 10.3 mg/dL, thyroid-stimulating hormone (TSH) <
0 01 mU/ml
0.01
U/ l ((normall range: 0
0.6–3.3),
6 3 3) ttotal
t l ttriiodothyronine
ii d th
i (TT3) 1
1.9
9 nmol/l
l/l
(normal range: 1.0–1.7), thyroxine (T4) 9.2 μg/dl (normal range: 5.5–11)
Case 2:
Initial Management
• Patient started on 50 mg propylthiouracil (PTU) tid
• Outcome
– 4 months later,
later TSH = 0.32
0 32 mU/mL,
mU/mL TT3 = 1
1.6
6 nmol/L
nmol/L, and TT4 = 8
8.6
6 μg/dL
• Patient still concerned about an inability to gain weight
despite a good appetite
• Because of a persistent weight loss despite improvement
in thyroid function, immunoglobulin A (IgA)
antiendomysial antibodies were measured and small
bowel biopsy conducted
– Serology suggested presence of celiac disease (titer of 1:1280)
– Small bowel biopsy confirmed the diagnosis
Case 2:
Follow Up Management
• Gluten-free diet initiated
• Follow up at 3 months
– Patient reported less abdominal bloating and a 3
3-lb
lb weight gain
• A1C decreased from 7.2 to 6.3% with dietary
modifications
• Thyroid function remained stable on 50 mg PTU tid, with
a TSH level of 0.41 mU/mL, TT3 of 1.4 nmol/L, and T4 of
8.2 μg/dL
Case 3:
Introduction
• 40-year-old female seen in the clinic complaining of
diarrhea, abdominal pain, and a general feeling of malaise
for at least the prior 2 weeks
– Patient denied vomiting, fever, bloody stools, melena, or travel history
– No history of recent weight loss
• PMH: unremarkable
• No current medications
Case 3:
Physical Exam
• Patient afebrile; BP: 95/68 mmHg; pulse: 72 bpm
• Abdomen had mild, diffuse tenderness to palpation
throughout
Case 3:
Laboratory Findings
• Laboratory results
–
–
–
–
–
–
–
–
Eosinophils: 8.7%
Hemoglobin:
g
90 g
g/L
Serum Fe: 3.0 mmol/L
IgA: 547 mg/dL
IgE: 14100 IU/mL
AST: 101 IU/L
ALT: 72.1 IU/L
All others within normal limits
• Th
Thyroid
roid panel within
ithin normal limits
• Stool studies ruled out occult blood and infectious
organisms
Case 3:
Further Evaluation
• Abdominal CT scan unremarkable
• Small bowel series showed some mucosal thickening of
the duodenum and jejunum
• Upper endoscopy revealed an atrophic duodenum
consistent with celiac sprue
• Duodenal biopsy showed flattened villi with crypt
elongation and hyperplasia along with infiltration of
lymphocytes,
y p
y
confirming
g the diagnosis
g
of celiac disease
• Tests of a serum sample were positive for antigliadin
immunoglobulin (Ig)A, IgG antibodies, and for
antiendomysial antibodies
Case 3:
Management
• Patient started on a gluten-free diet
– Symptoms resolved quickly
• Follow-up 2 weeks later
– Patient remains symptom free
• CBC count 2 months later revealed anemia had resolved