Celiac Disease — MCQs
A female engineer works for 12-14 hours a day and reports consuming only fast food, with no vegetables or fruits in her diet. Her hemoglobin (Hb) count is $9 \mathrm{~g} / \mathrm{dL}$, and her mean corpuscular volume (MCV) is 120 fL . Peripheral smear (PS) shows the presence of macrocytes. What is the most likely diagnosis?
In celiac disease, all are true EXCEPT:
Gold standard method of diagnosing celiac disease is
A 2-year-old presents with chronic diarrhea, failure to thrive, and a distended abdomen. Celiac disease is suspected. What is the most appropriate initial test to confirm the diagnosis?
A 12 year old girl has history of recurrent bulky stools and abdominal pain since 3 year of age. She has moderate pallor and her weight and height are below the 3rd percentile. Which of the following is the most appropriate investigation to make a specific diagnosis?
In a child, which of the following diseases is commonly misdiagnosed as appendicitis?
A child presents with itchy lesions and diarrhea and has been advised to follow a gluten-free diet. What is the most likely etiology of this condition?
The histological features of celiac disease include all of the following EXCEPT:
Secretory diarrhea is not typically associated with which of the following conditions?
All are true about Hirschsprung disease Except
Celiac Disease Indian Medical PG Practice Questions and MCQs
Question 1: A female engineer works for 12-14 hours a day and reports consuming only fast food, with no vegetables or fruits in her diet. Her hemoglobin (Hb) count is $9 \mathrm{~g} / \mathrm{dL}$, and her mean corpuscular volume (MCV) is 120 fL . Peripheral smear (PS) shows the presence of macrocytes. What is the most likely diagnosis?
- A. Folic acid deficiency (Correct Answer)
- B. Combined Vitamin B12 and Folic acid deficiency
- C. Iron deficiency anemia
- D. Vitamin B12 deficiency
- E. Anemia of chronic disease
Explanation: ***Folic acid deficiency*** - A **highly restrictive diet** lacking vegetables and fruits, combined with **macrocytic anemia** (Hb 9 g/dL, MCV 120 fL), strongly suggests folic acid deficiency. - Folic acid is essential for **DNA synthesis**, and its deficiency leads to impaired erythrocyte maturation, resulting in **large, immature red blood cells (macrocytes)**. - **Folate stores deplete within 3-4 months** of inadequate intake, making dietary deficiency clinically significant. - The patient's diet explicitly lacks **folate-rich foods** (green vegetables, fruits, legumes). *Vitamin B12 deficiency* - Also causes **macrocytic anemia** with identical hematological findings. - However, **Vitamin B12 is found in animal products** (meat, dairy, eggs), which are commonly present in fast food. - **B12 stores last 3-5 years**, so dietary deficiency takes much longer to develop unless there is **malabsorption** (pernicious anemia, gastrectomy). - No evidence of malabsorption or strict veganism in this case. *Combined Vitamin B12 and Folic acid deficiency* - While theoretically possible, the dietary history points more specifically to **folate deficiency**. - Combined deficiencies are more common in **severe malnutrition** or **malabsorption syndromes**. - Fast food typically contains adequate B12 from animal products. *Iron deficiency anemia* - Presents as **microcytic hypochromic anemia** with **low MCV** (<80 fL). - This patient has **macrocytic anemia** (MCV 120 fL), which directly contradicts iron deficiency. - Caused by **chronic blood loss** or inadequate iron intake, leading to small, pale RBCs. *Anemia of chronic disease* - Usually presents as **normocytic** or **mildly microcytic** anemia, not macrocytic. - While chronic stress and poor nutrition could contribute, the **high MCV (120 fL)** and **macrocytes** are inconsistent with this diagnosis. - Anemia of chronic disease typically has **normal to low MCV** and **normal RBC morphology** without macrocytosis.
Question 2: In celiac disease, all are true EXCEPT:
- A. Gliadin is the cause
- B. Increased brush border (Correct Answer)
- C. Decreased villi to crypt ratio
- D. Associated with HLA-DQ2 and HLA-DQ8
Explanation: ***Increased brush border*** - Celiac disease is characterized by **atrophy of the intestinal villi**, leading to a **decreased surface area** for absorption, not an increased brush border [1], [2]. This leads to malabsorption and its associated symptoms. - The inflammatory process in celiac disease causes destruction of the enterocytes and their microvilli, which constitute the brush border, thus reducing its integrity and function [2]. *Gliadin is the cause* - **Gliadin**, a component of gluten found in wheat, barley, and rye, is the primary trigger for the immune response in genetically predisposed individuals with celiac disease [1], [2]. - Digested gliadin peptides are recognized by immune cells, leading to an inflammatory reaction in the small intestine [2]. *Decreased villi to crypt ratio* - One of the hallmark histological findings in celiac disease is **villous atrophy**, which results in a significant **decrease in the villi to crypt ratio**, indicating loss of the absorptive surface and compensatory crypt hyperplasia [2]. - This architectural change is crucial for the diagnosis of celiac disease and reflects the damage to the small intestine lining. *Associated with HLA-DQ2 and HLA-DQ8* - Celiac disease is strongly associated with specific **HLA (Human Leukocyte Antigen) class II alleles**, primarily **HLA-DQ2 and HLA-DQ8**, which are found in over 95% of affected individuals [1]. - These genetic markers are essential for disease susceptibility, with **HLA-DQ2** present in approximately 90-95% of patients and **HLA-DQ8** in the remaining 5-10% [1]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Alimentary System Disease, pp. 360-361. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, pp. 789-790.
Question 3: Gold standard method of diagnosing celiac disease is
- A. Blood picture
- B. Small bowel biopsy (Correct Answer)
- C. Anti-endomysial antibodies
- D. Biochemical test
Explanation: ***Small bowel biopsy*** - A **small bowel biopsy** is considered the **gold standard** for diagnosing celiac disease as it directly visualizes the characteristic damage to the intestinal lining. - The biopsy reveals histologic changes like **villous atrophy**, crypt hyperplasia, and increased intraepithelial lymphocytes, which are pathognomonic for celiac disease [1]. *Blood picture* - A blood picture (complete blood count) might show **anemia** (often iron-deficiency anemia) due to malabsorption, but this is a non-specific finding and not diagnostic for celiac disease [1]. - It does not provide direct evidence of intestinal damage caused by gluten. *Anti-endomysial antibodies* - **Anti-endomysial antibodies (EMA)** are highly specific for celiac disease, but they are still a serological test, not the definitive diagnostic method. - Serological tests like EMA and **tissue transglutaminase (tTG) antibodies** are used for screening and monitoring but require biopsy confirmation. *Biochemical test* - Biochemical tests might show abnormalities related to **malabsorption**, such as low iron, calcium, or vitamin D levels, but these are secondary effects and not diagnostic of celiac disease itself [1]. - These tests indicate nutritional deficiencies but do not identify the underlying cause.
Question 4: A 2-year-old presents with chronic diarrhea, failure to thrive, and a distended abdomen. Celiac disease is suspected. What is the most appropriate initial test to confirm the diagnosis?
- A. Positive stool culture
- B. Elevated ESR
- C. Anti-tTG antibodies (Correct Answer)
- D. Serum IgA levels
Explanation: ***Anti-tTG antibodies*** - **Anti-tissue transglutaminase (anti-tTG) antibodies** are the primary serological test used to screen for **celiac disease** in children and adults. - A positive result, especially when several fold above the upper limit of normal, is highly suggestive of celiac disease and often followed by a **small bowel biopsy** for definitive diagnosis. *Positive stool culture* - A **positive stool culture** identifies bacterial or viral infections of the gastrointestinal tract, which can cause acute diarrhea. - While it can explain diarrhea, it does not confirm a diagnosis of **celiac disease**, which is an autoimmune condition triggered by gluten. *Elevated ESR* - **Elevated erythrocyte sedimentation rate (ESR)** is a general marker of inflammation and can be seen in many conditions, including infections, autoimmune diseases, and malignancies. - It is not specific to **celiac disease** and does not confirm the diagnosis. *Serum IgA levels* - Measuring **total serum IgA levels** is crucial alongside anti-tTG testing to rule out **IgA deficiency**, which can lead to a false-negative anti-tTG result. - However, IgA levels alone do not diagnose celiac disease; they are a preliminary check before interpreting IgA-based antibody tests.
Question 5: A 12 year old girl has history of recurrent bulky stools and abdominal pain since 3 year of age. She has moderate pallor and her weight and height are below the 3rd percentile. Which of the following is the most appropriate investigation to make a specific diagnosis?
- A. Barium studies
- B. Small intestinal biopsy (Correct Answer)
- C. 24-hour fecal fat estimation
- D. Urinary d-xylose test
Explanation: ***Small intestinal biopsy*** - This clinical presentation of **chronic bulky stools**, **growth retardation** (weight and height <3rd percentile), **pallor**, and abdominal pain since early childhood strongly suggests **celiac disease** - Small intestinal biopsy is the **gold standard for definitive diagnosis** of celiac disease, showing characteristic features: **villous atrophy**, **crypt hyperplasia**, and **increased intraepithelial lymphocytes** (Marsh classification) - While serological testing (anti-tTG IgA) is typically performed first in modern practice, among the given options, **biopsy provides the specific histological diagnosis** required - Biopsy allows differentiation from other causes of villous atrophy (tropical sprue, Giardia infection, cow's milk protein allergy) *Barium studies* - May show **non-specific findings** like dilated bowel loops, flocculation of barium, or jejunization of ileum in malabsorption - **Not diagnostic** for the specific underlying cause of malabsorption - Involves **radiation exposure** in a pediatric patient - Requires follow-up with more specific investigations for definitive diagnosis *24-hour fecal fat estimation* - Quantifies **steatorrhea** and confirms fat malabsorption (normal <7g/day in children) - Useful for **documenting the presence** of malabsorption but **does not identify the etiology** - Cannot differentiate between celiac disease, chronic pancreatitis, or other causes of malabsorption - Non-specific screening test rather than a diagnostic investigation *Urinary d-xylose test* - Assesses **small intestinal mucosal absorptive function** for carbohydrates - Abnormal in conditions affecting mucosa (celiac disease, tropical sprue, Crohn's disease) - **Not specific** for any particular disease entity - Less commonly used in modern practice due to availability of better diagnostic modalities
Question 6: In a child, which of the following diseases is commonly misdiagnosed as appendicitis?
- A. Intussusception
- B. Lymphadenitis
- C. Gastroenteritis
- D. All of the options (Correct Answer)
Explanation: ***All of the options*** - **Intussusception**, **lymphadenitis**, and **gastroenteritis** can all present with symptoms mimicking appendicitis in children, leading to potential misdiagnosis. - The similarities in abdominal pain, fever, and vomiting can make differentiation challenging without further diagnostic imaging or clinical evaluation. **Intussusception** - This condition involves the **telescoping of one segment of the intestine** into another, causing abdominal pain, vomiting, and sometimes a palpable mass. - While it can cause symptoms similar to appendicitis, classic signs like **currant-jelly stools** and an abdominal mass are often differentiating features. - Can present with colicky abdominal pain and guarding that mimics acute appendicitis. **Lymphadenitis (Mesenteric)** - **Mesenteric lymphadenitis** is an inflammation of the abdominal lymph nodes, often following a viral infection, causing generalized or right lower quadrant pain. - Its presentation can closely mimic appendicitis, and is one of the most common appendicitis mimics in children. - It typically lacks the progressive periumbilical pain migrating to the right lower quadrant that is typical of appendicitis, though this differentiation can be subtle. **Gastroenteritis** - **Gastroenteritis** presents with diffuse abdominal pain, vomiting, and diarrhea, which can sometimes be localized enough to suggest appendicitis, especially if pain is predominantly in the right lower quadrant. - However, the presence of significant diarrhea and more generalized abdominal discomfort often helps distinguish it from the focused pain of appendicitis. - In early presentations before diarrhea develops, differentiation can be particularly challenging.
Question 7: A child presents with itchy lesions and diarrhea and has been advised to follow a gluten-free diet. What is the most likely etiology of this condition?
- A. Whipple's disease
- B. Crohn's disease
- C. Dermatitis herpetiformis
- D. Celiac disease (Correct Answer)
Explanation: ***Celiac disease*** - **Celiac disease** is an autoimmune condition triggered by **gluten ingestion**, leading to small intestine damage and nutrient malabsorption. - The combination of **itchy lesions** (dermatitis herpetiformis, a skin manifestation of celiac disease), **diarrhea**, and improvement on a **gluten-free diet** are highly characteristic. - Since the question asks for the **underlying etiology**, celiac disease is the correct answer as it causes both the skin and GI manifestations. *Whipple's disease* - This is a rare systemic infection caused by the bacterium **Tropheryma whipplei**, presenting with **arthralgia, fever, malabsorption, and lymphadenopathy**. - While it can cause diarrhea and malabsorption, it is not associated with itchy skin lesions and does not respond to a gluten-free diet. *Crohn's disease* - **Crohn's disease** is a type of inflammatory bowel disease affecting any part of the GI tract, causing **abdominal pain, diarrhea, and weight loss**. - It is not associated with dermatitis herpetiformis and does not improve with a gluten-free diet (though some patients may have gluten sensitivity). *Dermatitis herpetiformis* - **Dermatitis herpetiformis** is the **cutaneous manifestation of celiac disease**, presenting as intensely itchy, vesicular lesions. - While DH explains the itchy lesions in this case, it is a **symptom/manifestation**, not the underlying **etiology**—the root cause is celiac disease itself, which produces both the intestinal damage (diarrhea) and the skin manifestations (DH).
Question 8: The histological features of celiac disease include all of the following EXCEPT:
- A. Crypt hyperplasia
- B. Increase in intraepithelial lymphocytes
- C. Increase in inflammatory cells in lamina propria
- D. Increase in thickness of the mucosa (Correct Answer)
Explanation: ***Increase in thickness of the mucosa*** - Celiac disease typically causes **villous atrophy**, leading to a **thinner intestinal mucosa**, not an increase in thickness [1]. - The architectural changes in celiac disease primarily involve blunting or absence of villi [2]. *Crypt hyperplasia* - This is a characteristic feature of celiac disease, where the **crypts of Lieberkühn** become elongated and hyperplastic to compensate for the damaged villi [1]. - It reflects increased cell turnover in response to mucosal injury. *Increase in intraepithelial lymphocytes* - An increase in **intraepithelial lymphocytes (IELs)** is a hallmark histological finding in celiac disease, often seen even before significant villous atrophy [1]. - These lymphocytes are typically CD3+ T-cells that infiltrate the epithelial layer. *Increase in inflammatory cells in lamina propria* - The lamina propria in celiac disease shows an increased infiltration of **chronic inflammatory cells**, including plasma cells and lymphocytes [2]. - This reflects the ongoing immune response to gluten peptides in the intestinal wall. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, pp. 789-790. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Alimentary System Disease, pp. 361-362.
Question 9: Secretory diarrhea is not typically associated with which of the following conditions?
- A. Phenolphthalein
- B. Cholera
- C. Celiac disease (Correct Answer)
- D. VIPoma
Explanation: ***Celiac disease*** [1] - Characterized by **malabsorption** due to immune-mediated damage to the intestinal mucosa, leading to **osmotic diarrhea** rather than secretory diarrhea [1]. - Symptoms include **bloating**, **weight loss**, and **steatorrhea**, which are not consistent with secretory processes. *Cholera* - Caused by **Vibrio cholerae**, leading to **massive secretory diarrhea** due to the action of cholera toxin on intestinal epithelial cells. - Presents with **watery diarrhea**, potentially leading to **dehydration** and electrolyte imbalances. *Addison's Disease* - This condition may cause **diarrhea** but typically results in **non-secretory diarrhea**, often associated with adrenal insufficiency symptoms. - Presenting features include **fatigue**, **weight loss**, and **hyperpigmentation**, not primarily secretory processes. *Phenolphthalein* - A laxative that can induce **secretory diarrhea** through its stimulant effects on the bowel. - Its mechanism leads to increased fluid secretion in the intestines, thus contributing to secretory diarrhea.
Question 10: All are true about Hirschsprung disease Except
- A. Absence of ganglion cells within the affected segment
- B. The rectum is never affected (Correct Answer)
- C. Dilation proximal to the affected segment.
- D. Hirschsprung disease typically presents with a failure to pass meconium in the immediate postnatal period.
Explanation: ***The rectum is never affected*** - Hirschsprung disease always involves the **rectum** and extends proximally for a variable distance. - The aganglionic segment uniformly includes the **distal rectum**. *Absence of ganglion cells within the affected segment* - The primary defect in Hirschsprung disease is the **absence of ganglion cells** (Meissner and Auerbach plexuses) in the affected intestinal segment. - This **aganglionosis** leads to a functional obstruction. *Dilation proximal to the affected segment* - Due to the functional obstruction from the aganglionic segment, the normal bowel **proximal** to it becomes dilated and hypertrophied. - This dilation occurs as the bowel tries to overcome the obstruction. *Hirschsprung disease typically presents with a failure to pass meconium in the immediate postnatal period* - A classic presentation of Hirschsprung disease is the failure to pass **meconium** within the first 24-48 hours of life. - This symptom is due to the lack of peristalsis in the aganglionic segment.
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