Hematology Practice Questions

Q: What is the most likely diagnosis for a 60-year-old man presenting with multiple punched-out lesions on imaging?

Multiple myeloma. ***Multiple myeloma*** - The presence of **multiple punched-out lesions** on imaging is a classic radiographic finding in multiple myeloma, caused by osteolytic bone destruction [1]. - Affects primarily older individuals, making a 60-year-old man a typical demographic [1]. *Eosinophilic granuloma* - More commonly presents as a **solitary bone lesion** and is typically seen in **children or young adults**. - While it can cause lytic lesions, the **multiplicity** described in an older patient makes it less likely than multiple myeloma. *Hyperparathyroidism* - Can cause bone resorption leading to **osteopenia** or **subperiosteal bone erosions**, especially in areas like the phalanges, but not typically "punched-out" lytic lesions. - Bone lesions in hyperparathyroidism are often referred to as **brown tumors**, which are distinct from the sharp, lytic lesions of multiple myeloma. *Acromegaly* - Characterized by **excess growth hormone**, leading to increased bone density and periosteal new bone formation. - It does not cause **punched-out lytic lesions**; rather, bone changes are typically proliferative.

Q: What is the appropriate treatment for megaloblastic anemia with neurological symptoms?

Folic acid with Hydroxycobalamin. Folic acid with Hydroxycobalamin - Neurological symptoms in megaloblastic anemia strongly suggest vitamin B12 deficiency, as folic acid alone can mask this deficiency and worsen neurological sequelae [3]. - Hydroxycobalamin is the preferred treatment for vitamin B12 deficiency, while folic acid addresses the megaloblastic hematopoiesis. Iron supplementation - This is used to treat iron deficiency anemia, which presents with microcytic or normocytic red blood cells, not megaloblastic changes [1]. - Iron supplementation would not address the neurological symptoms or the underlying B12 or folate deficiency. Vitamin B1 supplementation - Vitamin B1 (thiamine) deficiency is associated with conditions like beriberi and Wernicke-Korsakoff syndrome, characterized by neurological symptoms, but not megaloblastic anemia [4]. - Supplementation would not correct the underlying hematological abnormality or the specific neurological symptoms of B12 deficiency [4]. Folic Acid only - While folic acid is essential for DNA synthesis and would improve the hematological parameters of megaloblastic anemia, it does not treat vitamin B12 deficiency [2]. - Giving folic acid alone in the presence of B12 deficiency can lead to a worsening of neurological symptoms as it can correct the anemia but allow the neurological damage to progress [3].

Q: The Schilling test is primarily used to assess which of the following?

Vitamin B12 absorption due to intrinsic factor deficiency. The Schilling test is primarily used to assess which of the following? ***Presence of intrinsic factor*** - The Schilling test specifically assesses the **absorption of vitamin B12** and evaluates the **presence of intrinsic factor**, which is critical for vitamin B12 absorption in the intestines [1]. - A low absorption level associated with a deficiency of intrinsic factor indicates **pernicious anemia** [2]. *Deficiency of riboflavin* - Riboflavin deficiency is diagnosed through clinical symptoms or assays of **riboflavin levels**, not with the Schilling test. - Clinical features may include **angular stomatitis** and **cheilosis**, which are unrelated to vitamin B12 absorption. *Excretion of folic acid* - The Schilling test does not evaluate **folic acid metabolism** or its excretion; it is focused solely on **vitamin B12 absorption** [1]. - Folate deficiency affects different pathways and can be assessed through serum **folate levels** instead [3]. *Capillary fragility* - Capillary fragility relates to vascular abnormalities and does not pertain to **vitamin B12 absorption** or intrinsic factors. - Conditions like **scurvy** or **vitamin C** deficiency cause capillary fragility, which are not assessed by the Schilling test.

Q: Serious infections can occur when the absolute neutrophil count decreases to what level?

Less than 500/mL. **Less than 500/mL** - An **absolute neutrophil count (ANC)** below **500 cells/mm³** (or 0.5 x 10⁹/L) is defined as **severe neutropenia**. - At this level, the body's primary defense against **bacterial and fungal infections** is severely compromised, leading to a significantly increased risk of **serious and life-threatening infections**. *Less than 1000/mL* - An ANC between **500 and 1000 cells/mm³** is considered **moderate neutropenia**. - While reflecting a reduced immune response, the risk of serious infection is **lower** than with severe neutropenia, though still elevated compared to normal. *Less than 1500/mL* - An ANC below **1500 cells/mm³** (or 1.5 x 10⁹/L) is often considered the general threshold for **neutropenia**. - This level indicates a decreased number of neutrophils, but it generally does not carry the immediate and severe risk of infection seen with counts below 500/mL. *Less than 800/mL* - An ANC below **800 cells/mm³** falls within the range of **moderate neutropenia**. - While this level indicates some degree of immune compromise, it is not the critical threshold that defines the highest risk for severe, life-threatening infections, which is typically 500/mL.

Q: Kostmann's syndrome treatment is

Neutrophil-specific growth factor therapy. ***Neutrophil-specific growth factor therapy*** - Kostmann's syndrome, also known as **severe congenital neutropenia**, is characterized by a severe lack of **neutrophils**. - **Neutrophil-specific growth factor therapy**, primarily using **granulocyte colony-stimulating factor (G-CSF)**, is the cornerstone of treatment to increase neutrophil production and prevent life-threatening infections. *Immunosuppressive therapy* - This therapy is typically used for conditions involving an **overactive immune system** or **autoimmune diseases**, which is not the primary issue in Kostmann's syndrome. - While some immune dysregulation can occur, the core problem is a failure of **myelopoiesis** leading to neutropenia, not excessive immune activity. *Combination therapy with immunosuppressants and growth factors* - While G-CSF is crucial, adding **immunosuppressants** is generally not indicated as a primary treatment for Kostmann's syndrome, as it could further compromise immune function. - This combination might be considered in specific complex cases, but it's not the standard and most effective primary approach for the underlying neutropenia. *Myeloid growth factor therapy* - While Kostmann's syndrome involves a defect in **myeloid maturation**, the term "myeloid growth factor therapy" is too broad. - The specific factor needed is one that targets **neutrophil lineage**, which is G-CSF. While G-CSF is a myeloid growth factor, mentioning Taas "neutrophil-specific" is more precise.

Q: Which of the following conditions is least likely to be inherited in a familial manner?

Factor V Leiden mutation. ***Thalassemia*** - Thalassemia is a **genetic blood disorder** caused by mutations in hemoglobin genes [1], but biomarkers for diagnosis can sometimes arise **de novo**. - It exhibits **incomplete penetrance** and variable expressivity, meaning not all family members may express the trait despite sharing genes. *Hemophilia* - Hemophilia is a **X-linked recessive** disorder predominantly affecting males, passed from carrier mothers to sons [2]. - The condition leads to **deficiencies in blood clotting factors**, which are inherited in a recognizable familial pattern, though about 30% of patients have no family history due to new mutations [2]. *Factor V Leiden mutation* - Factor V Leiden is an **autosomal dominant** genetic mutation leading to increased clotting risk, often inherited from affected parents. - It presents as a familial tendency towards **venous thromboembolism**, clearly identifying its transmission. *Sickle cell anemia* - Sickle cell anemia is an **autosomal recessive** disorder, requiring two copies of the mutated gene for expression, commonly inherited within families [1]. - It leads to characteristic **sickle-shaped red blood cells**, with a clear familial pattern of inheritance [1]. It is important to distinguish that **hereditary disorders** are by definition transmitted through generations and are therefore **familial**.

Q: Mr. Lallu, aged 54 years, who is a known diabetic patient, develops cirrhosis. There is associated skin hyperpigmentation and restrictive cardiomyopathy. Which of the following is the best initial test to diagnose this case?

Serum ferritin. ***Serum ferritin*** - Elevated **serum ferritin** is an excellent initial screening test for **hemochromatosis** due to its direct correlation with iron stores [1]. - The constellation of **cirrhosis**, **diabetes**, **skin hyperpigmentation**, and **restrictive cardiomyopathy** strongly points to hemochromatosis, a disorder of excessive iron accumulation [2]. *Serum ceruloplasmin* - This test is primarily used for diagnosing **Wilson's disease**, which involves copper accumulation, not iron. - While Wilson's can cause cirrhosis, the other symptoms (diabetes and skin hyperpigmentation) are not typical for this condition. *Serum copper* - **Serum copper** is another test for Wilson's disease or other copper metabolism disorders. - It does not directly assess iron stores and would not be the best initial test for suspected hemochromatosis. *Iron binding capacity* - **Total iron-binding capacity (TIBC)** measures the blood's capacity to bind iron, primarily reflecting transferrin levels. - While relevant to iron metabolism, **serum ferritin** is a more sensitive and specific initial screening test for diagnosing iron overload in hemochromatosis.

Q: A 20-year-old male presented with fatigue, weakness, and jaundice. What is the most likely diagnosis?

Acute myeloid leukemia. ***Acute myeloid leukemia*** - Presents with **fatigue** and **weakness** due to bone marrow infiltration and resultant cytopenias, typical in this age group [1]. - Often shows **myeloblasts** on peripheral blood smear, confirming the diagnosis [2]. *Chronic myeloid leukemia* - Usually occurs in **older adults** and characterized by **elevated white blood cell counts** with a predominance of mature neutrophils. - Symptoms like fatigue may arise, but there are distinct **Philadelphia chromosome** findings and typically a **longer symptom duration**. *Acute lymphoblastic leukemia* - More common in **younger children** and often associated with **lymphadenopathy** and **thrombocytopenia**, rather than fatigue alone. - Characteristically shows **lymphoblasts** in the blood, which are not mentioned in this patient's presentation. *Chronic lymphocytic leukemia* - Typically presents in adults over **50 years** and is characterized by **lymphocytosis** and often asymptomatic in early stages. - Fatigue may occur but lacks the acute presentation and findings seen in **acute leukemias**. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 607-608. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 621-622.

Q: A 25-year-old lady on treatment for rheumatoid arthritis has the following laboratory findings: hemoglobin of 9 g/dL, mean corpuscular volume of 55 fl, serum iron of 30 μg/dL, ferritin of 200 ng/mL, and total iron-binding capacity of 298 μg/dL. What is the most probable diagnosis?

Thalassemia minor. **Thalassemia minor** - The combination of **microcytic anemia (MCV 55 fL)**, **low serum iron (30 μg/dL)**, **normal to elevated ferritin (200 ng/mL)**, and a **normal-to-high total iron-binding capacity (298 μg/dL)** suggests a condition where iron stores are adequate but incorporation into hemoglobin is impaired. - This is characteristic of **thalassemia trait**, where genetic defects lead to reduced synthesis of globin chains despite sufficient iron, causing microcytic, hypochromic red blood cells. *Thalassemia major* - Patients with **thalassemia major** typically present with severe anemia requiring frequent transfusions and would likely have much lower hemoglobin levels and often associated with markers of severe hemolysis. - While it causes **microcytic anemia**, the clinical picture and iron studies (especially relatively high ferritin and only moderately low hemoglobin) are less consistent with overt thalassemia major. *Anemia of chronic disease* - **Anemia of chronic disease (ACD)** typically presents with **normal or elevated ferritin** and a **low serum iron**, but usually has a **normal MCV** (normocytic anemia) or, sometimes, mild microcytosis [1]. - The MCV of 55 fL is too low to be classic ACD, and typically TIBC would be low in ACD due to inflammation [2]. *Iron deficiency anemia* - **Iron deficiency anemia** typically presents with **low serum iron**, **low ferritin**, and a **high total iron-binding capacity** due to the body's attempt to absorb more iron [2]. - The **elevated ferritin (200 ng/mL)** in this case makes isolated iron deficiency anemia highly unlikely, as ferritin is a measure of iron stores.

Question 1

What is the most likely diagnosis for a 60-year-old man presenting with multiple punched-out lesions on imaging?

Accepted Answer

Multiple myeloma

Answer

Eosinophilic granuloma

Answer

Hyperparathyroidism

Answer

Acromegaly

Question 2

What is the appropriate treatment for megaloblastic anemia with neurological symptoms?

Accepted Answer

Folic acid with Hydroxycobalamin

Answer

Iron supplementation

Answer

Vitamin B1 supplementation

Answer

Folic Acid only

Question 3

The Schilling test is primarily used to assess which of the following?

Accepted Answer

Vitamin B12 absorption due to intrinsic factor deficiency

Answer

Vitamin B12 deficiency due to dietary insufficiency

Answer

Absorption issues related to pancreatic function

Answer

Malabsorption of vitamin B12 due to intestinal issues

Question 4

Serious infections can occur when the absolute neutrophil count decreases to what level?

Accepted Answer

Less than 500/mL

Answer

Less than 1000/mL

Answer

Less than 1500/mL

Answer

Less than 800/mL

Question 5

Kostmann's syndrome treatment is

Accepted Answer

Neutrophil-specific growth factor therapy

Answer

Immunosuppressive therapy

Answer

Combination therapy with immunosuppressants and growth factors

Answer

Myeloid growth factor therapy

Question 6

Which of the following conditions is least likely to be inherited in a familial manner?

Accepted Answer

Factor V Leiden mutation

Answer

Hemophilia

Answer

Sickle cell anemia

Answer

Acquired thrombotic thrombocytopenic purpura (TTP)

Question 7

Mr. Lallu, aged 54 years, who is a known diabetic patient, develops cirrhosis. There is associated skin hyperpigmentation and restrictive cardiomyopathy. Which of the following is the best initial test to diagnose this case?

Accepted Answer

Serum ferritin

Answer

Serum ceruloplasmin

Answer

Serum copper

Answer

Iron binding capacity

Question 8

A 20-year-old male presented with fatigue, weakness, and jaundice. What is the most likely diagnosis?

Accepted Answer

Acute myeloid leukemia

Answer

Acute lymphoblastic leukemia

Answer

Chronic myeloid leukemia

Answer

Chronic lymphocytic leukemia

Question 9

A 25-year-old lady on treatment for rheumatoid arthritis has the following laboratory findings: hemoglobin of 9 g/dL, mean corpuscular volume of 55 fl, serum iron of 30 μg/dL, ferritin of 200 ng/mL, and total iron-binding capacity of 298 μg/dL. What is the most probable diagnosis?

Accepted Answer

Thalassemia minor

Answer

Thalassemia major

Answer

Iron deficiency anemia

Answer

Anemia of chronic disease

Question 10

Which of the following statements is true regarding von Willebrand disease?

Accepted Answer

Bleeding time is prolonged due to impaired platelet adhesion.

Answer

Factor VIII levels are always normal.

Answer

Platelet count is consistently decreased.

Answer

Activated partial thromboplastin time (aPTT) is always normal.

Hematology — MCQs

Hematology — MCQs

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