PANCE Blueprint GI and Nutrition (9%)

Celiac disease

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Patient will present as → a 45 year-old male from Ireland with complaints of diarrhea, steatorrhea, flatulence, weight loss, weakness and abdominal distension. He reports having 3-5 loose stool per day for the last six months. The condition improves when he fasts.

What two blood test can be used to diagnose celiac disease?
IgA endomysial antibody and IgA tTG antibody
Your patient has positive serology testing for celiac sprue. To confirm the diagnosis, you need to perform what test?
Endoscopic intestinal mucosal biopsy

Celiac disease is characterized by inflammation of the small bowel secondary to the ingestion of gluten-containing foods such as wheat, rye, and barley leading to malabsorption.

  • Celiac disease is an autoimmune disorder
  • Celiac disease runs in families
    • People with a first-degree relative with celiac disease (parent, child, sibling) have a 1 in 10 risk of developing celiac disease. 
      • 1:300 in southwest Ireland.
      • > 1:5000 in North America.

Clinical presentation is variable and may lead to a delay in diagnosis in milder cases

  • Diarrhea, steatorrhea, flatulence, weight loss, weakness and abdominal distension are common
  • Infants and children may present with failure to thrive

IgA antiendomysial (EMA) and antitissue transglutaminase (anti-tTG) antibodies. 

  • Tissue Transglutaminase Antibodies (tTG-IgA): The tTG-IgA test will be positive in about 98% of patients with celiac disease who are on a gluten-containing diet.
  • IgA Endomysial antibody (EMA): The EMA test has a specificity of almost 100%, but is not as sensitive as the tTG-IgA test. About 5-10% of people with celiac disease do not have a positive EMA test.

*Endoscopic intestinal mucosal biopsy of the proximal duodenum (bulb) and distal duodenum is the standard method for confirmation of the diagnosis in patients with a positive serologic test (IgA endomysial antibody) for celiac disease.

Treat with a gluten free diet. Supplementation may be needed to correct nutritional deficiencies in iron, vitamin B12, folic acid, calcium and vitamin D.

IM_MED_CeliacDiseaseCharacteristics_v1.2_ Celiac disease is characterized by symptoms of dermatitis herpetiformis, steatorrhea, decreased bone density, failure to thrive, anemia and weight loss. There is a strong association of this disease with HLA-DQ8 and HLA-DQ2, and it has a higher prevalence in patients of northern European descent.

Celiac Disease Characteristics Picmonic

Celiac disease is easily diagnosed with a plethora of biopsy and serological findings. On biopsy patients will display blunting of the intestinal villi, and increased lymphocyte infiltration of the lamina propria. Serology will show an immune response, which produces anti-endomysial antibodies, anti-gliadin antibodies, and anti-tissue transglutaminase antibodies. Treatment of celiac disease begins with lifestyle modifications. Patients should adhere to a gluten-free diet, and in cases that do not resolve, glucocorticoids can be added. Refractory cases of skin manifestations, known as dermatitis herpetiformis can be treated with Dapsone.

Celiac Disease Diagnosis and Treatment Picmonic

Question 1
A 14-year old female presented at the outpatient clinic on account of chronic diarrhea. Signs of delayed sexual maturity was seen. A diagnosis of celiac disease was made after physical examination and laboratory findings. The malabsorption syndrome is due to
A
Lactase deficiency
Hint:
Lactase deficiency manifests as bloating, flatus, and abdominal cramping after ingestion of milk and milk based product.
B
Impaired absorption of fat
Hint:
Impaired absorption of fat causes steatorrhea and is seen in pancreatic and gallbladder/bile duct lesions.
C
Impaired absorption of Vitamin B12
Hint:
Vitamin B12 deficiency manifests by fatigue, smooth, thick and red tongue. It’s seen in pernicious anemia.
D
Sensitivity to gliadin
Question 1 Explanation: 
Celiac disease is caused by genetic susceptibility to sensitivity to gliadins, which is an alcohol-water soluble fraction of GLUTEN.
Question 2
Histology of the above patient’s intestinal biopsy sample showed infiltrative lesion. What histological stage/type is this according to Marsh classification?
A
Type 0
Hint:
Type 0: pre-infiltrative stage (normal).
B
Type 1
C
Type 2
Hint:
Type 2: hyperplastic lesion (type 1 plus hyperplastic crypts).
D
Type 3
Hint:
Type 3: destructive lesion (type 2 plus atrophy of progressively more severe degrees [termed 3a, 3b, and 3c].
Question 2 Explanation: 
Marsh classification Type 1 of histological changes of celiac disease: infiltrative lesion (increased intraepithelial lymphocytes).
Question 3
Which of the following is not an extraintestinal manifestation of celiac disease?
A
Dermatitis herpetiformis
Hint:
Dermatitis herpetiformis is regarded as a cutaneous variant of celiac disease. It is a characteristic skin rash consisting of pruritic papulovesicles over the extensor surfaces of the extremities and over the trunk, scalp, and neck. Dermatitis herpetiformis occurs in <10% of patients with celiac disease.
B
Aphthous ulcers
Hint:
Present in children and adults with celiac disease. It is neither characteristic nor specific for celiac disease. However, ulcers often regress once the patients are on a gluten-free diet.
C
Iron-deficiency anemia
Hint:
Iron deficiency anemia is a very common extraintestinal manifestation of celiac disease.
D
Conjunctivitis
Question 3 Explanation: 
Conjunctivitis has no relation with celiac disease.
Question 4
The gold standard test to confirm the diagnosis of celiac disease is
A
Endoscopic mucosal biopsy of the small intestine.
B
Antigliadin antibodies
Hint:
Antigliadin antibodies are not recommended because of their lower sensitivity and specificity.
C
IgA tissue transglutaminase antibodies
Hint:
Is a serologic screening test that has a 95% sensitivity and 95% specificity for celiac disease.
D
IgA antiendomysial antibodies
Hint:
Is a serologic screening test.
Question 4 Explanation: 
Endoscopic mucosal biopsy of the small intestine (proximal duodenum and distal duodenum) is the standard method for confirmation of the diagnosis in patients with a positive serologic test for celiac disease.
Question 5
Which of the following statements is false concerning celiac disease?
A
IgA tissue transglutaminase antibody is a serologic screening test for celiac disease.
Hint:
See D for explanation
B
Intestinal symptoms in children include diarrhea, weight loss, abdominal distension, failure to thrive.
Hint:
See D for explanation
C
Gluten-free diet is essential in the treatment of patients with celiac disease.
Hint:
See D for explanation
D
Prednisolone has no role in the management of celiac disease.
Question 5 Explanation: 
Prednisolone may be required in refractory cases. All other statements are true.
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