Malabsorption Syndromes — MCQs

10 questions

A 35-year-old Caucasian female presents with anemia, malaise, bloating, and diarrhea. Past genetic testing revealed that this patient carries the HLA-DQ2 allele. The physician suspects that the patient's presentation is dietary in cause. Which of the following findings would definitively confirm this diagnosis?

Which of the following is a type of inflammatory bowel disease primarily affecting the small intestine? a) Coeliac disease b) Tropical sprue c) Regional ileitis d) Cystic fibrosis e) Ulcerative colitis

A 10-year-old child presents with recurrent episodes of blood in stool. On examination, his lips show pigmented macules. He may be suffering from?

The histological features of celiac disease include all of the following EXCEPT:

Best test for small intestine malabsorption of carbohydrates is

Exocrine pancreatic insufficiency is seen in:

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?

False about Shwachman-Diamond syndrome

A child is brought to the paediatric OPD with fever of 24 hours duration. History reveals 3 episodes of chest infection and passage of foul smelling stools. The most probable diagnosis is-

Q10

What is a feature of short bowel syndrome?

Malabsorption Syndromes Indian Medical PG Practice Questions and MCQs

Question 1: A 35-year-old Caucasian female presents with anemia, malaise, bloating, and diarrhea. Past genetic testing revealed that this patient carries the HLA-DQ2 allele. The physician suspects that the patient's presentation is dietary in cause. Which of the following findings would definitively confirm this diagnosis?

A. CT scan showing inflammation of the small bowel wall
B. Biopsy of the duodenum showing atrophy and blunting of villi (Correct Answer)
C. Biopsy of the colon showing epithelial cell apoptosis
D. Esophageal endoscopy showing lower esophageal metaplasia
E. Liver biopsy showing apoptosis of hepatocytes

Explanation: ***Biopsy of the duodenum showing atrophy and blunting of villi*** - This finding is the **gold standard** for diagnosing **celiac disease**, which aligns with the patient's symptoms (anemia, malaise, bloating, diarrhea), genetic predisposition (HLA-DQ2 allele), and suspected dietary cause. - The characteristic **villous atrophy** and **crypt hyperplasia** seen in duodenal biopsies are hallmark pathological changes in celiac disease due to gluten exposure. *CT scan showing inflammation of the small bowel wall* - While a CT scan can show **inflammation**, it is not specific enough to definitively diagnose celiac disease, as many other conditions can cause small bowel inflammation. - It does not provide the **histopathological detail** necessary to confirm villous atrophy, which is key for celiac diagnosis. *Biopsy of the colon showing epithelial cell apoptosis* - **Epithelial cell apoptosis** in the colon is not a primary diagnostic feature of celiac disease, which primarily affects the **small intestine**. - This finding might be associated with other inflammatory bowel conditions or infections, not gluten-induced enteropathy. *Esophageal endoscopy showing lower esophageal metaplasia* - **Lower esophageal metaplasia**, or **Barrett's esophagus**, is a pre-cancerous condition of the esophagus, often caused by chronic acid reflux. - This finding is unrelated to celiac disease and does not explain the patient's gastrointestinal symptoms or genetic predisposition. *Liver biopsy showing apoptosis of hepatocytes* - **Apoptosis of hepatocytes** (liver cell death) would indicate liver damage or disease, such as hepatitis or drug-induced injury. - While celiac disease can sometimes have **hepatic manifestations**, liver apoptosis is not a primary or definitive diagnostic criterion for celiac disease itself.

Question 2: Which of the following is a type of inflammatory bowel disease primarily affecting the small intestine? a) Coeliac disease b) Tropical sprue c) Regional ileitis d) Cystic fibrosis e) Ulcerative colitis

A. Ulcerative colitis
B. Cystic fibrosis
C. Tropical sprue
D. Regional ileitis (Correct Answer)
E. Coeliac disease

Explanation: ***Regional ileitis*** - **Regional ileitis** is another name for **Crohn's disease** when it primarily affects the **ileum**, which is part of the small intestine [1]. - Crohn's disease is a type of **inflammatory bowel disease (IBD)** [1] characterized by **transmural inflammation** that can affect any part of the gastrointestinal tract, but most commonly involves the small intestine. *Ulcerative colitis* - **Ulcerative colitis** is an **inflammatory bowel disease** that exclusively affects the **large intestine (colon and rectum)** [2]. - Unlike Crohn's disease, it involves continuous inflammation of the mucosa and submucosa, usually starting in the rectum and extending proximally [2]. *Cystic fibrosis* - **Cystic fibrosis** is a **genetic disorder** that affects the lungs, pancreas, liver, and intestine, leading to the production of **thick, sticky mucus**. - While it can cause malabsorption and intestinal issues due to pancreatic insufficiency, it is not primarily an inflammatory bowel disease in itself. *Tropical sprue* - **Tropical sprue** is a malabsorption syndrome thought to be caused by **environmental factors and microbial changes** in the small intestine, typically affecting individuals in tropical regions [3]. - It results in abnormal small intestinal architecture and nutrient malabsorption, but it is not classified as an inflammatory bowel disease like Crohn's or ulcerative colitis. *Coeliac disease* - **Coeliac disease** is an **immune-mediated condition** triggered by the ingestion of **gluten**, leading to damage of the small intestinal villi [3]. - While it affects the small intestine and involves an immune response, it is distinct from inflammatory bowel diseases which are characterized by chronic, relapsing inflammation of the GI tract.

Question 3: A 10-year-old child presents with recurrent episodes of blood in stool. On examination, his lips show pigmented macules. He may be suffering from?

A. Crohn disease
B. Intussusception
C. Peutz Jegher syndrome (Correct Answer)
D. Meckel's diverticulum

Explanation: ***Peutz Jegher syndrome*** - This syndrome is characterized by **hamartomatous polyps** in the gastrointestinal tract and **melanin spots** on the mucous membranes (lips, buccal mucosa) and digits. - The polyps can lead to complications such as **bleeding** (blood in stool), intussusception, and an increased risk of various cancers. *Crohn disease* - This is an **inflammatory bowel disease** causing chronic inflammation of the GI tract, which can lead to blood in stool. - However, Crohn's disease is not associated with **pigmented macules** on the lips. *Intussusception* - This condition involves the **telescoping of one part of the intestine into another**, which can cause sudden onset severe abdominal pain, vomiting, and "current jelly" stools (blood and mucus). - It is not primarily associated with **pigmented macules** on the lips as a diagnostic feature. *Meckel's diverticulum* - This is a common congenital anomaly where a remnant of the **vitelline duct** persists, often containing ectopic gastric or pancreatic tissue. - It can cause **painless rectal bleeding**, but it is not associated with **pigmented macules** on the lips.

Question 4: 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 5: Best test for small intestine malabsorption of carbohydrates is

A. Lund meal test
B. D-Xylose test (Correct Answer)
C. Follacin test
D. Schilling test

Explanation: ***D-Xylose test*** - The **D-xylose absorption test** is specifically designed to assess the absorptive function of the **small intestine** for **carbohydrates**. - D-xylose is a **monosaccharide** that does not require enzymatic digestion before absorption, making it an excellent indicator of mucosal integrity. *Lund meal test* - The **Lundh test** is used to evaluate **exocrine pancreatic function** by measuring the release of digestive enzymes after a standardized meal [1]. - It is not primarily used to assess small intestine carbohydrate absorption. *Schilling test* - The **Schilling test** is specifically used to diagnose **vitamin B12 (cobalamin) malabsorption** and to differentiate its causes, such as pernicious anemia or intrinsic factor deficiency [2]. - It does not directly assess carbohydrate absorption. *Follacin test* - This term is likely a misspelling or an unfamiliar test name in the context of malabsorption. - **Folate (folic acid)** levels can be measured to assess nutritional status [3], but there isn't a widely recognized "follacin test" for carbohydrate malabsorption.

Question 6: Exocrine pancreatic insufficiency is seen in:

A. Shwachman-Diamond syndrome (Correct Answer)
B. Rubinstein-Taybi syndrome
C. Seckel syndrome
D. Diamond-Blackfan syndrome

Explanation: ***Shwachman-Diamond syndrome*** - This syndrome is characterized by **exocrine pancreatic insufficiency**, neutropenia, skeletal abnormalities, and growth retardation. - The pancreatic insufficiency leads to **malabsorption** and **steatorrhea** due to insufficient production of digestive enzymes. *Rubinstein-Taybi syndrome* - This syndrome is characterized by broad thumbs and great toes, intellectual disability, and distinctive facial features, but not primarily by exocrine pancreatic insufficiency. - It is caused by mutations in the **CREBBP** or **EP300** genes, which are not directly involved in pancreatic function. *Seckel syndrome* - This is a rare genetic disorder characterized by **primordial dwarfism**, microcephaly, and intellectual disability. - While it affects growth and development, it is not typically associated with exocrine pancreatic insufficiency. *Diamond-Blackfan syndrome* - This syndrome primarily involves **pure red cell aplasia**, leading to severe anemia. - Although it can have various congenital anomalies, **exocrine pancreatic insufficiency** is not a characteristic feature of this condition.

Question 7: 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 8: False about Shwachman-Diamond syndrome

A. Bone marrow dysfunction
B. Exocrine pancreatic insufficiency
C. Leucocytosis (Correct Answer)
D. Short stature

Explanation: ***Leucocytosis*** - **Leucocytosis** (an increase in white blood cells) is generally **not** a feature of Shwachman-Diamond syndrome (SDS); rather, patients typically experience **neutropenia** (low neutrophils) due to bone marrow dysfunction. - This persistent or intermittent neutropenia is a hallmark of the immune deficiency seen in SDS, making leucocytosis an incorrect finding. *Bone marrow dysfunction* - **Bone marrow dysfunction** is a defining characteristic of Shwachman-Diamond syndrome, leading to various **cytopenias**, most notably **neutropenia**. - This dysfunction can also manifest as anemia or thrombocytopenia, contributing to the overall morbidity of the disease. *Exocrine pancreatic insufficiency* - **Exocrine pancreatic insufficiency** is a primary clinical feature of Shwachman-Diamond syndrome, leading to **malabsorption** and **failure to thrive**. - This insufficiency is due to abnormal pancreatic development and is distinct from the more severe pancreatic involvement seen in cystic fibrosis. *Short stature* - **Short stature** is a common finding in children with Shwachman-Diamond syndrome, often resulting from a combination of **growth plate abnormalities** and **malnutrition** due to pancreatic insufficiency. - It is considered a key **skeletal manifestation** of the disease, along with metaphyseal chondrodysplasia.

Question 9: A child is brought to the paediatric OPD with fever of 24 hours duration. History reveals 3 episodes of chest infection and passage of foul smelling stools. The most probable diagnosis is-

A. Crigler-Najjar Syndrome
B. Maple Syrup urine Disease
C. Bilirubin Conjugation Defect
D. Cystic Fibrosis (Correct Answer)

Explanation: ***Cystic Fibrosis*** - Recurrent **chest infections** and **foul-smelling stools** (due to pancreatic insufficiency leading to malabsorption) are classic hallmarks of cystic fibrosis. - This genetic disorder primarily affects the **lungs** and **digestive system**, leading to thick, sticky mucus. *Crigler-Najjar Syndrome* - This syndrome is a rare genetic disorder characterized by severe **unconjugated hyperbilirubinemia**, leading to **jaundice** and potential neurological damage. - It does not typically present with recurrent chest infections or foul-smelling stools. *Maple Syrup urine Disease* - This is an **amino acid metabolism disorder** leading to the accumulation of branched-chain amino acids, characterized by a distinctive "maple syrup" odor in the urine. - It presents with neurological symptoms, feeding difficulties, and developmental delay, not primarily chest infections and foul-smelling stools. *Bilirubin Conjugation Defect* - This refers to conditions like Gilbert's syndrome or Crigler-Najjar syndrome, which cause varying degrees of **unconjugated hyperbilirubinemia** and **jaundice**. - It does not explain the recurrent respiratory infections or malabsorption symptoms like foul-smelling stools.

Question 10: What is a feature of short bowel syndrome?

A. Hypergastrinemia & high gastric secretion is seen
B. Diarrhea, dehydration and malnutrition
C. Chronic TPN dependence
D. Malabsorption leading to diarrhea, dehydration, and malnutrition. (Correct Answer)

Explanation: ***Malabsorption leading to diarrhea, dehydration, and malnutrition.*** [1], [2] - The primary characteristic of short bowel syndrome is **reduced intestinal surface area**, leading to inadequate absorption of nutrients, water, and electrolytes [1]. - This malabsorption manifests as **chronic diarrhea**, which can cause significant **dehydration** and **malnutrition** due to nutrient deficiencies [2]. *Diarrhea, dehydration and malnutrition* - While these are prominent symptoms, they are consequences of the underlying **malabsorption**, which is the fundamental process. - This option describes symptoms but doesn't fully explain the root physiological mechanism as comprehensively as the correct answer. *Chronic TPN dependence* - **Total Parenteral Nutrition (TPN)** dependence can be a severe consequence for patients with very short or severely damaged bowel segments, but it is not a feature inherent to all cases of short bowel syndrome. - Many patients can manage with oral or enteral nutrition, especially if a significant portion of the small bowel remains functional. *Hypergastrinemia & high gastric secretion is seen* - This can occur in certain cases of short bowel syndrome, particularly if there is a loss of the **duodenum** (which normally inhibits gastrin release) or if there's extensive ileal resection. - However, it's not a universal or defining feature for all patients and is secondary to the primary problem of malabsorption.

Want unlimited practice?

Get full access to all questions, explanations, and performance tracking.

Start For Free