A young patient experiences shortness of breath specifically during exercise in winter, which subsides after using salbutamol. What is the most likely explanation for this condition?
A man presents with high VLDL and chylomicrons, with eruptive xanthomas. What is the most likely diagnosis?
A subject was brought to the Casualty with a history of RTA and head injury. On examination, he was conscious. When the doctor asked questions about the incident, his answers were irrelevant to the questions, but his speech was fluent. What could be the possible site of injury?
A patient presents with fatigue, anemia, and hepatomegaly. Hemoglobin electrophoresis reveals the presence of HbS. What will be the appropriate treatment?
Which of the following genetic mutations is most commonly associated with familial cases of Amyotrophic Lateral Sclerosis (ALS)?
A young boy presents with joint swelling after a fall. Lab investigations show normal PT and raised aPTT. What is the most likely diagnosis?
A 15-year-old boy presents with tremors, difficulty in speech, and behavioral changes. On examination, he has hepatomegaly and a golden-brown ring at the limbus of the cornea (Kayser-Fleischer ring). Wilson's disease is suspected. Which of the following is the best investigation to support the diagnosis?
A 39-year-old male with symptoms of stress and work-life imbalance is diagnosed with Stage 2 hypertension (blood pressure 150/95 mmHg on three separate occasions) and impaired fasting glucose (120 mg/dL). What is the most appropriate pharmacological management?
A patient with chronic kidney disease presents with severe anemia. Laboratory tests reveal normocytic, normochromic anemia. What is the most appropriate treatment to manage this patient's anemia?
A patient presents with complaints of excessive thirst and increased urination of around 6–7 liters per day. He had a history of cerebral trauma one month ago. What is the most appropriate treatment?
FMGE 2025 - Internal Medicine FMGE Practice Questions and MCQs
Question 71: A young patient experiences shortness of breath specifically during exercise in winter, which subsides after using salbutamol. What is the most likely explanation for this condition?
- A. Decreased cardiac output stimulates baroreceptors
- B. Exercise-induced bronchoconstriction triggered by cold air (Correct Answer)
- C. Vagal stimulation due to cold air exposure
- D. Hyperventilation-induced respiratory alkalosis
Explanation: ***Exercise-induced bronchoconstriction triggered by cold air*** - This patient presents with classic **Exercise-Induced Bronchoconstriction (EIB)**, previously known as exercise-induced asthma - **Key clinical features:** Dyspnea occurring during/after exercise, worsened by cold/dry air, rapid response to beta-2 agonists (salbutamol) [1] - **Pathophysiology:** Exercise increases ventilation → inhalation of cold, dry air → water loss from airway surface → increased osmolarity → mast cell degranulation and inflammatory mediator release → bronchoconstriction - Cold air is a potent trigger as it increases airway heat and water loss - Salbutamol (short-acting beta-2 agonist) provides rapid bronchodilation, confirming bronchospasm as the mechanism *Decreased cardiac output stimulates baroreceptors* - Baroreceptors respond to changes in blood pressure, not directly related to bronchospasm - Would not explain the rapid response to salbutamol - Cardiac dysfunction would present with different symptoms (fatigue, peripheral edema) [1] *Hyperventilation-induced respiratory alkalosis* - While exercise increases respiratory rate, respiratory alkalosis causes paresthesias, lightheadedness, not primarily dyspnea - Does not explain the seasonal (winter) pattern - Would not respond specifically to bronchodilators *Vagal stimulation due to cold air exposure* - Cold air can trigger vagal reflexes, but this would cause bradycardia and peripheral vasoconstriction - Vagal bronchomotor tone increases airway resistance but doesn't fully explain the exercise + cold air synergy - The dramatic response to salbutamol indicates beta-2 receptor-mediated bronchodilation is the primary mechanism
Question 72: A man presents with high VLDL and chylomicrons, with eruptive xanthomas. What is the most likely diagnosis?
- A. Familial hyperlipidemia
- B. Familial dysbetalipoproteinemia
- C. Familial hypertriglyceridemia (Correct Answer)
- D. Familial hypercholesterolemia
Explanation: ***Familial hypertriglyceridemia (Type IV or V hyperlipidemia)*** - This condition presents with **elevated VLDL and chylomicrons**, causing severe hypertriglyceridemia [1] - **Eruptive xanthomas** are pathognomonic for triglyceride levels >1000 mg/dL, appearing as small yellow papules on extensor surfaces and buttocks - Patients are at risk for **acute pancreatitis** due to extreme triglyceride elevation - Treatment includes **fibrates, omega-3 fatty acids, and strict dietary fat restriction** [2] *Familial hyperlipidemia* - This is a non-specific term that could refer to any inherited lipid disorder - Not a precise diagnostic entity used in clinical practice *Familial dysbetalipoproteinemia (Type III)* - Characterized by elevated **IDL (intermediate-density lipoproteins)**, not primarily VLDL + chylomicrons [1] - Presents with **palmar xanthomas (yellowish discoloration of palmar creases)** and tuberoeruptive xanthomas [1] - Different lipid pattern and xanthoma distribution than described *Familial hypercholesterolemia* - Characterized by elevated **LDL cholesterol**, not triglycerides [1] - Presents with **tendinous xanthomas, xanthelasma, and corneal arcus** [1] - Does not cause eruptive xanthomas or chylomicronemia
Question 73: A subject was brought to the Casualty with a history of RTA and head injury. On examination, he was conscious. When the doctor asked questions about the incident, his answers were irrelevant to the questions, but his speech was fluent. What could be the possible site of injury?
- A. Brain stem
- B. Inferior frontal gyrus
- C. Superior temporal gyrus (Correct Answer)
- D. Pre-central gyrus
Explanation: ***Correct Answer: Superior temporal gyrus*** - The patient exhibits **fluent aphasia** (fluent speech) with severely **impaired comprehension** (irrelevant answers), which is the hallmark of **Wernicke's aphasia** [1]. - **Wernicke's area**, responsible for language comprehension, is located in the posterior aspect of the dominant hemisphere's **superior temporal gyrus** [1]. *Incorrect: Pre-central gyrus* - This area houses the primary **motor cortex**; damage typically results in contralateral **hemiparesis** or paralysis, not selective language comprehension deficits [1]. - Although cortical damage can cause speech articulation issues (**dysarthria**), it does not account for the specific fluent aphasia with catastrophic loss of understanding described. *Incorrect: Inferior frontal gyrus* - The dominant inferior frontal gyrus contains **Broca's area**, damage to which results in **non-fluent aphasia** (impaired speech production) with preserved comprehension [1]. - This presentation (fluent speech, poor comprehension) is diametrically opposite to the expected profile of **Broca's aphasia** [1]. *Incorrect: Brain stem* - Injury here often causes severe alterations in **consciousness**, cranial nerve palsies, or **dysarthria** due to involvement of motor pathways. - The brain stem is not primarily involved in complex, higher-order language functions like comprehension; pure Wernicke's aphasia is a **cortical syndrome** [1].
Question 74: A patient presents with fatigue, anemia, and hepatomegaly. Hemoglobin electrophoresis reveals the presence of HbS. What will be the appropriate treatment?
- A. Blood transfusion
- B. Iron supplementation
- C. Vitamin B12 supplementation
- D. Hydroxyurea (Correct Answer)
Explanation: Correct: Hydroxyurea - This is the primary disease-modifying therapy for Sickle Cell Disease (SCD), significantly reducing the frequency of vaso-occlusive crises and acute chest syndrome [1]. - It works by increasing the production of fetal hemoglobin (HbF), which interferes with HbS polymerization and subsequent sickling of red blood cells [1]. - Hydroxyurea is the first-line chronic management for symptomatic SCD patients [1]. *Incorrect: Blood transfusion* - Transfusions are reserved for acute, life-threatening complications of SCD, such as aplastic crisis, severe exacerbation of anemia, or prevention of stroke in high-risk patients [1]. - Chronic routine transfusions carry risks of iron overload (hemosiderosis) and alloimmunization, making them generally unsuitable for standard chronic management. *Incorrect: Iron supplementation* - Sickle cell anemia is a hemolytic anemia typically resulting in elevated iron stores due to chronic hemolysis, and if transfusions are given, iron overload (hemosiderosis) is a major concern. - Iron supplementation is contraindicated unless a specific, documented iron deficiency is present, as it can worsen iron deposition in vital organs. *Incorrect: Vitamin B12 supplementation* - Vitamin B12 is primarily used to treat megaloblastic anemia resulting from B12 deficiency (e.g., pernicious anemia). - SCD anemia is caused by chronic extravascular hemolysis, and while folic acid is often required due to high cell turnover, B12 is not the targeted treatment for HbS pathology.
Question 75: Which of the following genetic mutations is most commonly associated with familial cases of Amyotrophic Lateral Sclerosis (ALS)?
- A. HTT gene mutation
- B. CFTR gene mutation
- C. FMR1 gene mutation
- D. SOD1 gene mutation (Correct Answer)
Explanation: ***SOD1 gene mutation***- Mutations in the **Superoxide Dismutase 1 (SOD1)** gene are historically significant and account for approximately 15–20% of all familial ALS cases.- The SOD1 protein is located in the cytoplasm and mitochondria, and mutations lead to toxic misfolding and aggregation, resulting in **motor neuron death**.*CFTR gene mutation*- The **CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)** gene mutation is critically linked to the development of **Cystic Fibrosis**, a severe disorder of exocrine glands.- This mutation primarily affects chloride ion transport across epithelia, leading to highly viscous secretions, particularly in the airways and pancreas, not motor neuron disease.*HTT gene mutation*- Mutations involving the **HTT (Huntingtin)** gene, specifically expanded **CAG trinucleotide repeats**, cause **Huntington's disease**.- Huntington’s disease is characterized by progressive degeneration of the **striatum** and cortex, leading to movement abnormalities (*chorea*), cognitive decline, and psychiatric symptoms, distinct from ALS.*FMR1 gene mutation*- The **FMR1 (Fragile X Messenger Ribonucleoprotein 1)** gene is responsible for **Fragile X syndrome**, the most common inherited cause of intellectual disability.- The mutation involves expansion of the **CGG trinucleotide repeat**, typically leading to transcriptional silencing and symptoms like macroorchidism and behavioral issues, not primary motor neuron degeneration.
Question 76: A young boy presents with joint swelling after a fall. Lab investigations show normal PT and raised aPTT. What is the most likely diagnosis?
- A. Von Willebrand Disease
- B. Hemophilia (Correct Answer)
- C. Platelet function disorder
- D. Iron Deficiency Anaemia (IDA)
Explanation: ***Hemophilia***- The presentation of joint swelling after trauma (suggesting **hemarthrosis**) in a young boy is highly characteristic of hemophilia, which is an X-linked recessive disorder [1].- Hemophilia A (Factor VIII deficiency) or B (Factor IX deficiency) affects the **intrinsic coagulation pathway**, leading to an isolated prolongation of the **aPTT** while the PT remains normal. *Von Willebrand Disease*- VWD primarily causes defects in **platelet adhesion** and mild to moderate mucocutaneous bleeding (e.g., epistaxis, menorrhagia), not typically severe spontaneous hemarthrosis [1].- While severe VWD can lower Factor VIII and mildly prolong aPTT, it generally presents differently and often affects both males and females (autosomal pattern) [2].*Iron Deficiency Anaemia (IDA)*- IDA is a nutritional deficiency resulting in **microcytic, hypochromic anemia** and is not a primary bleeding disorder.- It does not involve defects in the coagulation cascade; therefore, PT and aPTT levels would be within the **normal reference range**.*Platelet function disorder*- These disorders (e.g., Glanzmann's or Bernard-Soulier) affect **primary hemostasis** (platelet plug formation), leading mainly to mucocutaneous bleeding [2].- In platelet disorders, the **PT and aPTT** are typically normal, as the coagulation cascade (secondary hemostasis) is intact.
Question 77: A 15-year-old boy presents with tremors, difficulty in speech, and behavioral changes. On examination, he has hepatomegaly and a golden-brown ring at the limbus of the cornea (Kayser-Fleischer ring). Wilson's disease is suspected. Which of the following is the best investigation to support the diagnosis?
- A. Serum ceruloplasmin
- B. Liver biopsy for copper estimation (Correct Answer)
- C. Copper excretion in urine
- D. Serum copper
Explanation: ***Liver biopsy for copper estimation*** - This is considered the **gold standard** diagnostic test for Wilson's disease, as it directly measures the pathologically increased copper accumulation in the liver - A hepatic copper concentration greater than **250 µg per gram** dry weight is generally diagnostic of Wilson's disease - **Important clinical context:** In this case, the presence of **Kayser-Fleischer rings with neurological symptoms** makes the diagnosis of Wilson's disease virtually certain [1]. In such scenarios, liver biopsy may **not be necessary** as the diagnosis can be confirmed with non-invasive investigations (ceruloplasmin + urinary copper) - Liver biopsy is primarily indicated when the diagnosis is **uncertain** or when non-invasive tests are inconclusive [2] - However, as the question asks for the "best investigation to support the diagnosis," liver biopsy remains the most **definitive** test, though not always the most **practical** first choice *Serum ceruloplasmin* - This is typically the **first-line investigation** for suspected Wilson's disease and is usually low (<20 mg/dL or <200 mg/L) - However, up to 10–20% of symptomatic patients may present with **normal serum ceruloplasmin** levels, particularly in children - Low ceruloplasmin levels are also seen in other conditions, such as **protein-losing states**, severe malnutrition, or other copper metabolism disorders, limiting its specificity - In the presence of KF rings, a low ceruloplasmin is highly supportive and often sufficient for diagnosis *Serum copper* - Total serum copper is often low because ceruloplasmin (the main copper-carrying protein) level is low, but this finding is **non-specific** - In the setting of **fulminant hepatic failure**, massive release of stored copper can occur, leading to paradoxically normal or even elevated serum copper levels [1] - Free (non-ceruloplasmin-bound) copper is elevated in Wilson's disease but is difficult to measure directly *Copper excretion in urine* - Elevated 24-hour urinary copper excretion (usually **>100 µg/day**) is a highly supportive finding, reflecting increased levels of non-ceruloplasmin-bound copper - Values **>1,000 µg/day** strongly suggest acute liver failure due to Wilson's disease - The reliability of this test can be hampered by **incomplete or inaccurate 24-hour urine collection**, making it less conclusive than direct liver copper measurement - This is an excellent non-invasive supportive test when KF rings are present
Question 78: A 39-year-old male with symptoms of stress and work-life imbalance is diagnosed with Stage 2 hypertension (blood pressure 150/95 mmHg on three separate occasions) and impaired fasting glucose (120 mg/dL). What is the most appropriate pharmacological management?
- A. Start thiazide diuretic
- B. Advise rest only, no pharmacological treatment
- C. Start glucocorticoids
- D. Start telmisartan (Correct Answer)
Explanation: Start telmisartan - **Telmisartan** is an Angiotensin II Receptor Blocker (ARB), the most appropriate first-line choice for treating **Stage 2 hypertension** (150/95 mmHg) in patients with metabolic risk factors like **impaired fasting glucose**. [1] - ARBs are **metabolically neutral or beneficial**, providing cardiovascular protection and reducing progression to diabetes in patients with prediabetes. [1] - They offer **renal protection** (nephropathy prevention), which is crucial in patients at risk for developing diabetes mellitus. [1] - ARBs and ACE inhibitors are preferred over other antihypertensives in patients with metabolic syndrome. [1] *Start glucocorticoids* - Glucocorticoids are **absolutely contraindicated** in hypertension management and would severely worsen both conditions. - They cause **iatrogenic hypertension** and **hyperglycemia**, potentially precipitating diabetes mellitus. - This option represents a dangerous treatment choice with no role in this clinical scenario. *Start thiazide diuretic* - While thiazide diuretics are effective antihypertensives and commonly used first-line agents, they have **adverse metabolic effects**. [1] - Thiazides can worsen **glucose tolerance** and precipitate diabetes in prediabetic patients. [1] - They may also cause **dyslipidemia** and worsen metabolic syndrome components. - In patients with impaired fasting glucose, ARBs/ACE inhibitors are preferred due to their superior metabolic profile. [1] *Advise rest only, no pharmacological treatment* - **Stage 2 hypertension** (≥140/90 mmHg) with confirmed multiple elevated readings requires **immediate pharmacological therapy** alongside lifestyle modifications. - While addressing stress and work-life balance through lifestyle changes is important, these measures alone are insufficient for Stage 2 hypertension. - Delaying treatment increases cardiovascular risk, including stroke, myocardial infarction, and heart failure. [1] - Current guidelines (ACC/AHA, ESC/ESH) mandate pharmacological intervention for Stage 2 hypertension at initial diagnosis. [1]
Question 79: A patient with chronic kidney disease presents with severe anemia. Laboratory tests reveal normocytic, normochromic anemia. What is the most appropriate treatment to manage this patient's anemia?
- A. Vitamin B12 injection
- B. Folic acid supplementation
- C. Darbepoetin alfa (Correct Answer)
- D. Iron chelation therapy
Explanation: ***Darbepoetin alfa*** - Anemia in **Chronic Kidney Disease (CKD)** is predominantly caused by decreased production of **erythropoietin** by the failing kidneys, resulting in normocytic, normochromic anemia [1] - **Darbepoetin alfa** is a long-acting **Erythropoiesis-Stimulating Agent (ESA)** that replaces the deficient hormone, directly correcting the underlying cause of anemia in CKD - This is the **standard of care** for managing anemia in CKD patients with normocytic, normochromic presentation *Folic acid supplementation* - Indicated for **megaloblastic anemia** due to **folate deficiency**, which presents as macrocytic anemia (high MCV) [2] - Does not stimulate red blood cell production directly and is ineffective against the primary defect of **erythropoietin deficiency** in CKD - The patient's normocytic anemia excludes folate deficiency [2] *Vitamin B12 injection* - Standard treatment for Vitamin B12 deficiency (e.g., **pernicious anemia**), which causes macrocytic, megaloblastic anemia [2] - The patient presents with **normocytic** anemia, indicating the deficiency is not related to B12 or folate metabolism - No indication for B12 supplementation in this clinical scenario *Iron chelation therapy* - **Iron chelation** is used to treat severe **iron overload** (hemochromatosis) or toxicity, not to treat anemia - Patients with CKD-related anemia often require supplemental **iron** to enhance their response to ESAs like Darbepoetin alfa - Using chelation would be counterproductive and worsen the anemia
Question 80: A patient presents with complaints of excessive thirst and increased urination of around 6–7 liters per day. He had a history of cerebral trauma one month ago. What is the most appropriate treatment?
- A. Hydrochlorothiazide
- B. Tolvaptan
- C. Desmopressin (Correct Answer)
- D. Insulin
Explanation: ***Desmopressin***- This clinical presentation of excessive thirst and massive polyuria (6–7 L/day) following **cerebral trauma** strongly suggests **Central Diabetes Insipidus (CDI)**, which results from inadequate production or release of **Antidiuretic Hormone (ADH)/Vasopressin** in the posterior pituitary or hypothalamus.- **Desmopressin** (DDAVP) is a synthetic ADH analog and acts as the highly effective hormone replacement therapy [1], directly addressing the underlying deficiency and drastically reducing urine output.- This causes water permeability of the collecting ducts to increase through binding of ADH to the V2 receptor, which enhances collecting duct water permeability through the insertion of aquaporin (AQP-2) channels into the luminal cell membrane [2].*Hydrochlorothiazide*- This medication is paradoxically used in the treatment of **Nephrogenic Diabetes Insipidus (NDI)**, where the renal tubules fail to respond to ADH [1].- It works by inducing mild volume depletion, which leads to increased proximal tubule reabsorption of solutes and water, thereby decreasing fluid delivery to the collecting duct.*Tolvaptan*- **Tolvaptan** is a **V2 vasopressin receptor antagonist** primarily used to promote water excretion in conditions like **SIADH** (Syndrome of Inappropriate ADH) to correct hyponatremia.- Administering an ADH antagonist in a state of ADH deficiency (Diabetes Insipidus) would be contraindicated, as it would worsen polyuria and potentially cause severe **hypernatremia**.*Insulin*- **Insulin** is the definitive treatment for **Diabetes Mellitus**, a condition characterized by high blood glucose levels and subsequent osmotic diuresis leading to polyuria.- While Diabetes Mellitus can cause polyuria, the history of recent **cerebral trauma** and the absence of expected accompanying symptoms like persistent hyperglycemia and glycosuria make CDI the far more likely diagnosis.