FMGE 2025 - Internal Medicine Practice Questions

Q: A patient has a long arm span, hypermobile joints and ectopia lentis. What is the defective protein?

Fibrillin-1. ***Fibrillin-1***- **Marfan syndrome**, characterized by a **long arm span (arachnodactyly)**, **joint hypermobility**, and superiorly displaced **ectopia lentis (hypermobile lens)**, results from mutations in the *FBN1* gene, which codes for **Fibrillin-1**.- **Fibrillin-1** is a critical component of connective tissue **microfibrils** found in the suspensory ligaments of the eye, periosteum, and aortic media, explaining the systemic clinical manifestations.*Collagen*- Defects in **Collagen** (e.g., Type I, III, or V) are associated with **Osteogenesis Imperfecta** (brittle bones) or **Ehlers-Danlos syndrome** (severe skin and joint hyperlaxity) [1].- While Ehlers-Danlos syndrome can cause joint hypermobility, the classic combination with **ectopia lentis** strongly differentiates Marfan syndrome from primary collagenopathies [1].*Elastin*- Mutations in the **Elastin** gene (ELN) are primarily linked to conditions like **Williams syndrome**, which typically presents with **supravalvular aortic stenosis** and characteristic facial features [2].- **Elastin** provides rubber-like properties to tissues, but its primary defect does not explain the specific loss of structural integrity leading to superiorly displaced **ectopia lentis** seen in Marfan syndrome [2].*Keratin*- **Keratin** proteins are intermediate filaments crucial for mechanical stability in **epithelial cells** (skin, hair, nails).- Defects in keratin primarily cause **epidermolysis bullosa** or various forms of **ichthyosis** (skin blistering/scaling), and do not lead to the systemic skeletal or ocular connective tissue anomalies observed here.

Q: A patient presents with contralateral face, arm, and leg weakness. NCCT shows intracerebral hemorrhage (ICH). What is the most likely location of the CNS bleed?

Basal ganglia. ***Basal ganglia*** - The **basal ganglia**, particularly the **putamen**, is the most common site for hypertensive intracerebral hemorrhage, which aligns perfectly with the deep parenchymal bleed seen on the provided NCCT scan. - A lesion in this location classically damages the adjacent **internal capsule**, where motor fibers for the face, arm, and leg are tightly packed, resulting in **contralateral hemiparesis**. *Midbrain* - A midbrain hemorrhage would present with distinct cranial nerve deficits, most notably **oculomotor nerve (CN III) palsy**, causing a "down and out" eye position, ptosis, and a dilated pupil. - Other characteristic signs include altered consciousness and **vertical gaze palsy** (Parinaud syndrome), which are absent in this patient's pure motor presentation. *Pons* - Pontine hemorrhages have a catastrophic presentation, typically causing a rapid descent into **coma**, **quadriplegia**, and classic **pinpoint pupils** due to disruption of descending sympathetic pathways. - The patient's presentation of contralateral hemiparesis without coma or pupillary changes is inconsistent with a pontine bleed. *Medulla* - Medullary hemorrhages are rare and cause specific brainstem syndromes like **Wallenberg syndrome**, characterized by vertigo, nystagmus, dysphagia, and ipsilateral facial numbness. - These syndromes involve complex crossed sensory and motor deficits, not the uniform contralateral motor weakness described in the question.

Q: What is the management of undulant fever?

Doxycycline plus rifampicin. ***Doxycycline plus rifampicin***- This is the **standard and preferred oral combination regimen** for treating **Brucellosis** (undulant fever), typically administered for 6 weeks [1].- The combination is crucial because it uses antibiotics that penetrate macrophages and have a **synergistic effect**, significantly reducing the risk of relapse compared to monotherapy.*Doxycycline*- **Doxycycline** is the cornerstone of treatment due to its excellent **intracellular penetration**, but **monotherapy** is associated with high rates of **relapse**.- It must be combined with a second agent (like **rifampicin** or **streptomycin**) to achieve adequate cure rates and prevent recurrence.*Doxycycline with azithromycin*- While macrolides like **azithromycin** show *in vitro* activity against *Brucella*, clinical data supporting this combination as a first-line treatment are generally lacking.- This combination is **less effective** and not recommended by major professional guidelines compared to regimens using **rifampicin** or aminoglycosides.*Doxycycline plus ceftriaxone*- **Ceftriaxone** (a third-generation cephalosporin) is used primarily for complicated brucellosis, especially **neurobrucellosis** (often added to the standard regimen).- It is **not recommended** as part of the standard initial **oral** regimen for uncomplicated brucellosis due to inferior efficacy compared to rifampicin.

Q: A patient has cheilosis with koilonychia and anemia. Diagnosis is?

Plummer-Vinson syndrome. ***Plummer-Vinson syndrome***- This syndrome is defined by the classic triad of **dysphagia** (due to esophageal webs), **iron deficiency anemia**, and mucosal changes, which include **cheilosis** (angular stomatitis) and **koilonychia** (spoon nails) [1].- It is most common in middle-aged women and results from chronic, severe **iron deficiency**, which causes the epithelial atrophy leading to the observed symptoms [1].*Esophageal cancer*- While **Plummer-Vinson syndrome** is a pre-malignant condition that increases the risk of **esophageal squamous cell carcinoma**, the current presentation describes the syndrome's classic signs, not confirmed malignancy.- Malignancy typically causes progressive **dysphagia** and severe **weight loss**, and the specific triad of **cheilosis** and **koilonychia** is not the primary diagnostic feature.*Achalasia cardia*- This is a **primary esophageal motility disorder** characterized by the poor relaxation of the **lower esophageal sphincter (LES)** and aperistalsis of the esophageal body.- The main symptoms are **dysphagia** (to both solids and liquids) and **regurgitation**, but it is not associated with the systemic features of **iron deficiency anemia**, **cheilosis**, or **koilonychia**.*Tylosis palmaris*- **Tylosis palmaris** is a form of **palmoplantar keratoderma**, an inherited disorder causing marked hyperkeratosis (thickening) of the palms and soles.- Although it is strongly associated with an increased risk for **esophageal squamous cell carcinoma** (Howel-Evans syndrome), it does not cause the specific features of **iron deficiency anemia**, **cheilosis**, and **koilonychia**.

Q: Which classification is used for Barrett esophagus?

Prague classification. ***Prague classification***- This classification is specifically designed for the standardized endoscopic assessment and documentation of **Barrett esophagus** (BE).- It uses two main parameters: the maximal extent (M) and the circumferential extent (C) of the columnar-lined esophagus, ensuring consistent reporting for surveillance.*Savary-Miller classification*- This classification system is used to grade the severity of **reflux esophagitis** (erosive esophagitis), not Barrett esophagus.- It categorizes esophageal mucosal injury based on the extent and depth of erosions.*Johnson classification*- This classification is generally not a recognized standard system for classifying key GI pathology like Barrett esophagus, unlike established systems such as the **Prague classification** or **Los Angeles classification** for reflux esophagitis.- *Note: A Johnson classification exists for pediatric hip dysplasia, but it is unrelated to GI endoscopy.* *Forrest classification*- This system is used exclusively to classify the appearance of **peptic ulcer bleeding** (or other upper GI bleed sources) seen during endoscopy.- It helps predict the risk of rebleeding and guides interventions, such as those performed for ulcers with adherent clots or active oozing.

Q: A female patient complains of chest pain while waking up in the morning. Pain is more in winter months. Which of the following best describes this patient?

Ach-induced coronary vasoconstriction. ***Ach-induced coronary vasoconstriction***- This clinical presentation—chest pain at rest (especially in the morning hours) and exacerbation during winter months (due to cold exposure)—is the hallmark of **Variant (Prinzmetal's) angina**, which is caused by transient **coronary vasospasm**. [1]- The mechanism involves underlying endothelial dysfunction leading to hyperreactivity of coronary smooth muscle, which can be demonstrated via provoked spasm using agents like **Acetylcholine (ACh)** during diagnostic tests. [1]*Fixed plaque obstruction*- This pathology defines **Stable Angina**, where chest pain is typically predictable and primarily brought on by physical **exertion** when myocardial oxygen demand exceeds fixed supply. [1]- Stable angina rarely occurs exclusively at rest upon waking and does not typically exhibit marked seasonal variation associated with **vasospasm** triggers like cold.*Subendocardial ischemia due to increased demand of myocardium*- Demand ischemia results from factors that increase myocardial workload (e.g., high heart rate, exercise), leading to supply-demand mismatch, which is minimized during rest/sleep. [1]- Prinzmetal's angina is a *supply* problem (vasospasm) causing acute, severe **transmural ischemia**, often presenting with transient **ST elevation** on ECG, differentiating it from typical subendocardial demand ischemia.*Increased sympathomimetic drive in morning hours*- While the natural circadian rhythm involves an increase in sympathetic tone upon waking, potentially triggering cardiac events, this does not describe the specific mechanism of the chest pain.- The symptoms described are most diagnostic of **Prinzmetal's angina**, a distinct disorder defined by localized arterial hyperreactivity rather than general sympathetic increase.

Q: CSF shows abundant PMNs with low sugar and elevated proteins. Diagnosis is?

Acute bacterial meningitis. ***Acute bacterial meningitis*** - The findings of abundant **Polymorphonuclear leukocytes (PMNs)**, **low CSF glucose** (due to bacterial consumption), and **elevated protein** are the classic triad for an acute bacterial infection of the meninges [1]. - A high PMN count indicates an acute inflammatory response, and the profound hypoglycemia and marked protein elevation distinguish it from most viral etiologies [1]. *Tubercular Meningitis* - While also associated with **low CSF glucose** and **elevated protein**, the predominant cell type is typically **lymphocytic** (mononuclear cells), not PMNs [3]. - The CSF often appears xanthochromic, and organisms like *M. tuberculosis* generally cause a subacute or chronic presentation rather than the acute presentation suggested by abundant PMN presence [3]. *Viral encephalitis* - CSF analysis usually reveals a **lymphocytic pleocytosis** (a higher proportion of lymphocytes), not a PMN predominance. - Glucose levels are typically **normal**, and protein elevation is usually mild to moderate, not markedly elevated. *Viral meningitis* - Similar to viral encephalitis, viral meningitis primarily causes a **lymphocytic pleocytosis** with a transient PMN phase early on, which quickly shifts to lymphocytes [2]. - The defining feature differentiating it from bacterial or tubercular meningitis is the **normal CSF glucose** level and milder protein elevation [2].

Q: Which of the following is a recommended treatment for esophageal varices?

Endoscopic ligation. ***Endoscopic ligation*** - This is a first-line endoscopic therapy for both actively bleeding esophageal varices and for the primary and secondary prevention of variceal hemorrhage [1]. - The procedure, also known as **variceal banding**, involves placing small rubber bands around the varices to ligate them, leading to thrombosis and eventual sloughing off [1]. *Transjugular intrahepatic portosystemic shunt (TIPS)* - TIPS is considered a second-line or salvage therapy for variceal bleeding that is refractory to endoscopic and pharmacological treatments [2]. - It is an invasive procedure that creates a shunt to reduce **portal pressure**, but it is reserved for uncontrolled bleeding due to risks such as **hepatic encephalopathy** [2]. *Intravenous labetalol* - While non-selective beta-blockers like **propranolol** or **nadolol** are used for the prophylaxis of variceal bleeding, they are not the treatment for an acute bleed. Vasoactive drugs like **terlipressin** or **octreotide** are used instead [1]. - Labetalol is a beta-blocker primarily used to manage **hypertension** and is not indicated for the acute management of variceal hemorrhage. *Oral amoxicillin* - Antibiotic prophylaxis (typically with intravenous third-generation cephalosporins like **ceftriaxone**) is recommended in patients with cirrhosis and variceal bleeding to prevent **spontaneous bacterial peritonitis (SBP)**. - Antibiotics do not treat the varices directly or stop the bleeding; they are given to reduce mortality associated with infections in this patient population.

Q: A follow-up patient of GERD on endoscopy was having a nodule in the 2nd part of the duodenum, which hormone are you suspecting to be raised?

Gastrin. ***Gastrin*** - The presence of a nodule in the second part of the duodenum, a common location within the **gastrinoma triangle** (Passaro's triangle), combined with GERD, strongly suggests a **gastrinoma**. - Gastrinomas cause **Zollinger-Ellison Syndrome (ZES)** by secreting excessive **gastrin**, which leads to gastric acid hypersecretion, resulting in refractory peptic ulcers and severe GERD [1]. *Inulin* - **Inulin** is a polysaccharide, not a hormone, and it is used clinically to measure the **glomerular filtration rate (GFR)**. - If this option meant **insulin**, an insulinoma would cause symptoms of **hypoglycemia**, such as sweating, tremors, and confusion, not GERD. *VIP* - A tumor secreting **Vasoactive Intestinal Peptide (VIPoma)** causes **WDHA syndrome**, characterized by **W**atery **D**iarrhea, **H**ypokalemia, and **A**chlorhydria. - This condition is associated with **low stomach acid** (achlorhydria), which is contrary to the hyperacidity that causes GERD. *Glucagon* - A **glucagonoma** is a tumor that secretes excess glucagon, leading to a syndrome characterized by **diabetes mellitus** and a classic skin rash known as **necrolytic migratory erythema**. - It is not associated with gastric acid hypersecretion or duodenal nodules presenting with GERD.

Q: A 16-year-old boy presents with multiple episodes of abdominal pain and a history of passing blood in his stools. On examination, he has darkly pigmented spots on his lips and oral mucosa. Endoscopy reveals multiple hamartomatous polyps in the small intestine. What is the most likely diagnosis?

Peutz-Jeghers Syndrome. ***Peutz-Jeghers Syndrome*** - This is an autosomal dominant disorder characterized by the classic triad of **hamartomatous polyps** in the GI tract (especially the small intestine), **mucocutaneous hyperpigmentation** (dark spots on lips, oral mucosa), and an increased risk of cancer [1]. - The patient's symptoms of abdominal pain and GI bleeding are common complications due to the polyps, which can lead to **intussusception** or ulceration. *Familial Adenomatous Polyposis* - This syndrome is defined by the presence of hundreds to thousands of **adenomatous polyps** in the colon, not hamartomatous polyps as seen in this patient [1]. - It is not associated with the characteristic **perioral mucocutaneous pigmentation** which is a hallmark feature of Peutz-Jeghers syndrome. *Juvenile Polyposis Syndrome* - This condition also involves **hamartomatous polyps**, but they are most commonly found in the colon and rectum, and the syndrome lacks the distinct mucocutaneous pigmentation [1]. - While patients can present with GI bleeding, the combination of small intestine polyps and pigmented lip spots points away from this diagnosis. *Cronkhite-Canada Syndrome* - This is a rare, non-hereditary syndrome typically affecting older adults, characterized by GI polyposis along with ectodermal changes like **alopecia** (hair loss) and **onychodystrophy** (nail changes). - Patients often present with severe diarrhea and **protein-losing enteropathy**, which are not features described in this case.

Question 1

A patient has a long arm span, hypermobile joints and ectopia lentis. What is the defective protein?

Accepted Answer

Fibrillin-1

Answer

Keratin

Answer

Elastin

Answer

Collagen

Question 2

A patient presents with contralateral face, arm, and leg weakness. NCCT shows intracerebral hemorrhage (ICH). What is the most likely location of the CNS bleed?

Accepted Answer

Basal ganglia

Answer

Pons

Answer

Midbrain

Answer

Medulla

Question 3

What is the management of undulant fever?

Accepted Answer

Doxycycline plus rifampicin

Answer

Doxycycline

Answer

Doxycycline plus ceftriaxone

Answer

Doxycycline with azithromycin

Question 4

A patient has cheilosis with koilonychia and anemia. Diagnosis is?

Accepted Answer

Plummer-Vinson syndrome

Answer

Esophageal cancer

Answer

Achalasia cardia

Answer

Tylosis palmaris

Question 5

Which classification is used for Barrett esophagus?

Accepted Answer

Prague classification

Answer

Johnson classification

Answer

Forrest classification

Answer

Savary-Miller classification

Question 6

A female patient complains of chest pain while waking up in the morning. Pain is more in winter months. Which of the following best describes this patient?

Accepted Answer

Ach-induced coronary vasoconstriction

Answer

Fixed plaque obstruction

Answer

Increased sympathomimetic drive in morning hours

Answer

Subendocardial ischemia due to increased demand of myocardium

Question 7

CSF shows abundant PMNs with low sugar and elevated proteins. Diagnosis is?

Accepted Answer

Acute bacterial meningitis

Answer

Viral encephalitis

Answer

Tubercular Meningitis

Answer

Viral meningitis

Question 8

Which of the following is a recommended treatment for esophageal varices?

Accepted Answer

Endoscopic ligation

Answer

Transjugular intrahepatic portosystemic shunt (TIPS)

Answer

Intravenous labetalol

Answer

Oral amoxicillin

Question 9

A follow-up patient of GERD on endoscopy was having a nodule in the 2nd part of the duodenum, which hormone are you suspecting to be raised?

Accepted Answer

Gastrin

Answer

Inulin

Answer

Glucagon

Answer

VIP

Question 10

A 16-year-old boy presents with multiple episodes of abdominal pain and a history of passing blood in his stools. On examination, he has darkly pigmented spots on his lips and oral mucosa. Endoscopy reveals multiple hamartomatous polyps in the small intestine. What is the most likely diagnosis?

Accepted Answer

Peutz-Jeghers Syndrome

Answer

Cronkhite-Canada Syndrome

Answer

Juvenile Polyposis Syndrome

Answer

Familial Adenomatous Polyposis

FMGE 2025 — Internal Medicine