HPI
35 year old caucasian female presents to
your clinic with 3 month history of diarrhea,
bloating, and fatigue.
What else would you like to know?
HPI continued
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Patient states the diarrhea occurs daily, and that the stools are large and
malodorous. She also states feeling embarrassed at work lately due to
foul smelling gas, which has been occurring daily as well.
She denies any nausea or vomiting, but notes feeling bloated daily,
especially after meals.
She notes losing about ten pounds since the diarrhea started, and
denies any changes in diet or exercise routine. Her diet is true to her
Italian roots, and consists of pasta and various meats and vegetables.
Patient denies any recent travel, sick contacts, or illnesses.
Medical history
• Past medical history: Anorexia from age 18-22.
• Past surgical history: appendectomy at age 7.
• Medications: Daily multivitamin
• Family History: Mother with hashimoto's thyroiditis.
Father and paternal grandmother with hypertension.
• Social History: Married and works as a second grade
teacher. Denies smoking, alcohol, or illicit drugs.
Physical Exam
Vitals: Temp 98.6F, Pulse 105, Resp 20, BP 125/82
Gen: Thin appearing Caucasian female, in no acute distress.
Cardio: Mildly tachycardic with regular rhythm. No murmurs, rubs, or
gallops. Strong distal pulses.
Abdominal Exam: Soft but mildly distended abdomen. Hyperactive bowel
sounds. Moderately tender upon palpation diffusely. No organomegaly
noted.
Skin: Papulovesicular rash present on the extensor surfaces of both
forearms.
Psych: Alert and oriented to person, place, and time. Mildly anxious.
What is on our differential diagnosis??
Differential Diagnosis
-Irritable bowel syndrome
-Inflammatory Bowel
Disease
-Crohn's Disease
-Ulcerative Colitis
-Infectious
-Bacterial
-Viral
-Parasitic
-Neoplasm
-Lymphoma
-Lactose Intolerance
-Eating disorder relapse
-Celiac Disease
-What tests should we order?
Labs
WBC 10,000 (normal)
Hgb 10.0 (low)
BMP: K 3.0 (low), otherwise electrolytes within normal limits
Iron Studies:
-Serum iron: 40 mcg/dl (low)
-Ferritin: 5 ng/ml (low)
-TIBC: 600 mcg/dl (high)
Fecal occult blood test: negative
IgA tissue transglutaminase (tTg): 12.0 U/ml (positive)
IgA endomysial antibody (EMA): present
What should we do next?
Upper endoscopy with small bowel biopsy
Findings:
-Blunting or loss of the villi
-Hyperplasia of the crypts
-Increased lymphocytes in the intraepithelial layer
What is your diagnosis?
Diagnosis: Celiac Disease
-Also known as gluten-sensitive enteropathy
Epidemiology
-Estimated to affect 1 out of every 100-200 Americans.
-Autoimmune, genetic, and environmental components
-Associated with Down Syndrome, Turner Syndrome, autoimmune thyroid
disease, and Type I Diabetes
Pathophysiology
-Gluten is a storage protein found in wheat, barley, and rye
-It is broken down in the digestive system into peptides, including one called
gliadin. Throughout a series of steps in predisposed patients, gliadin then
can bind to antigen presenting cells in the small intestine, leading to
inflammation and tissue damage unique to celiac disease.
Clinical Presentation of Celiac Disease
Adults
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Usually diagnosed between 30-60 years old
Most common symptoms include: diarrhea, bloating, abdominal pain,
weight loss, and fatigue
Other extraintestinal manifestations include: arthritis, iron deficiency
anemia, dermatitis herpetiformis, and osteoporosis
Children
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Usually diagnosed between 6 mo and 2 years of age, due to the
introduction of cereal in this range.
Common symptoms include irritability, diarrhea, failure to thrive,
diarrhea, and abdominal distension
Endoscopy Images of Small Intestine
-Top left: Endoscopy photo of normal small intestine.
-Top right: Biopsy of normal small intestine, showing numerous healthy villi
-Bottom left: Endoscopy photo from a patient with celiac disease. Arrows pointing to
characteristic "scalloping" of the folds of the intestinal mucosa.
-Bottom right: Biopsy of small intestine with celiac disease. The villi are blunted and much
less defined than the above healthy villi.
Dermatitis herpetiformis
-Pruritic papulovesicular rash found in roughly 10% of patients with
celiac disease.
-Classically, it is found on the trunk or extensor surfaces of arms and
legs.
-In addition to following a gluten-free diet, dapsone cream can also be
prescribed to help clear the rash.
-Histologically, dermatitis herpetiformis is confirmed by the characteristic
IgA deposits in the subepidermal basement membrane.
Treatment and Prognosis
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Following a strict gluten-free diet is the only treatment for celiac disease.
The majority of patients have improvement in their symptoms if they
strictly follow the dietary precautions.
-Additionally by following the diet, they could potentially be decreasing the
chance of more serious problems associated with celiac disease, including
infertility, osteoporosis, and malignancy.
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The cancer rate is higher in patients with celiac disease than in the general
population.
-Two of the most common types of cancer seen in patients with celiac
disease include enteropathy-associated T-cell lymphoma and small
intestinal adenocarcinoma.
-If a patient continues to experience diarrhea, abdominal pain, or weight
loss despite following the gluten-free diet, these more serious diagnoses
should be in the differential.