Hematology Practice Questions

Q: Factor V mutation most commonly initially presents as:-

Deep Vein Thrombosis (DVT). ***Deep Vein Thrombosis (DVT)*** - Factor V Leiden mutation is a common inherited **thrombophilia**, significantly increasing the risk of **venous thromboembolism (VTE)**. - While VTE encompasses DVT and pulmonary embolism, **DVT is the most frequent initial presentation** because it is the primary thrombotic event leading to other complications [2]. *Thrombosis* - This is a general term for the formation of a **blood clot** that obstructs blood flow. - While Factor V Leiden causes thrombosis, **DVT is a specific and common type** of thrombosis that typically presents first [1]. *Disseminated Intravascular Coagulation (DIC)* - DIC is a complex, life-threatening condition characterized by widespread activation of coagulation leading to both **thrombosis and hemorrhage**. - It is typically triggered by severe underlying conditions like sepsis or trauma, and is **not a primary presentation of Factor V Leiden mutation**. *Pulmonary Embolism (PE)* - PE occurs when a **blood clot travels to the lungs**, often originating from a DVT. - While Factor V Leiden increases PE risk, **DVT is usually the antecedent event** and thus the more common initial clinical presentation [1].

Q: Which of the following is not true regarding Von Willebrand disease?

Hemarthrosis is the usual presentation. **Hemarthrosis is the usual presentation** - **Hemarthrosis** (bleeding into joints) is characteristic of severe factor deficiencies, such as **hemophilia A or B**, but is uncommon in von Willebrand disease (vWD) [2]. - vWD typically presents with **mucocutaneous bleeding** (e.g., easy bruising, nosebleeds, heavy menstrual bleeding) due to impaired platelet adhesion [2]. *Normal platelet count* - Patients with von Willebrand disease usually have a **normal platelet count**, as the issue is with the function or quantity of **von Willebrand factor (vWF)**, not the number of platelets [3]. - vWF primarily mediates platelet adhesion and protects **factor VIII** from degradation, so platelet production itself is unaffected [1]. *Quantitative defects are seen in subtypes 1 and 3 von Willebrand disease* - **Type 1 vWD** involves a partial **quantitative deficiency** of vWF, meaning reduced levels of otherwise normal vWF. - **Type 3 vWD** is characterized by a severe or near-complete **absence of vWF**, representing the most severe quantitative defect. *Produced by endothelial cells* - **Von Willebrand factor (vWF)** is primarily synthesized and stored in **endothelial cells** (in Weibel-Palade bodies) and also in **megakaryocytes**. - Its production by endothelial cells allows for its release into the bloodstream and subendothelial matrix to facilitate **hemostasis**.

Q: Which of the following hematological problems may be precipitated by parvovirus?

Aplastic crisis. ***Aplastic crisis*** - Parvovirus B19 preferentially infects and destroys **erythroid progenitor cells** in the bone marrow, leading to a temporary halt in red blood cell production [1]. - This can precipitate an **aplastic crisis**, especially in individuals with underlying chronic hemolytic anemias (e.g., **sickle cell disease** or **hereditary spherocytosis**), where red blood cell lifespan is already shortened [2]. *Hemolytic crisis* - A hemolytic crisis involves an **accelerated destruction of red blood cells**, leading to a sudden drop in hemoglobin. - While parvovirus can indirectly worsen anemia, it primarily affects red cell production rather than directly increasing their destruction, acting more as a trigger for a production problem than a hemolytic one [1]. *Thrombocytopenia* - **Thrombocytopenia** is characterized by a low platelet count, which can lead to bleeding disorders. - While viral infections can sometimes cause mild myelosuppression affecting platelets, parvovirus B19 is not typically associated with severe or primary thrombocytopenia. *Pancytopenia* - **Pancytopenia** is a reduction in all three blood cell lines (red blood cells, white blood cells, and platelets). - While parvovirus can cause a transient aplastic crisis (affecting red cells), it rarely causes a severe, sustained suppression of all cell lines to be classified as true pancytopenia, though some transient leukopenia may occur [1].

Q: Which of the following is the best treatment for refractory ITP?

Splenectomy. ***Splenectomy*** - **Splenectomy** is considered the most effective treatment for **refractory immune thrombocytopenic purpura (ITP)**, especially in patients who have failed multiple lines of medical therapy [1]. - The spleen is the primary site of **platelet destruction** and **antibody production** against platelets in ITP, so its removal can lead to a sustained increase in platelet count [1]. *Platelet transfusion* - While platelet transfusions can temporarily increase platelet counts, they are generally reserved for **acute, life-threatening bleeding** in ITP, not as a definitive treatment for refractory cases. - Transfused platelets are rapidly destroyed by the same **autoantibodies** that target endogenous platelets, making their effect short-lived. *Azathioprine* - **Azathioprine** is an **immunosuppressant** that can be used in ITP, but it is typically a **second-line** or **third-line agent** and its response takes time [1]. - It is not considered the "best" treatment for refractory ITP compared to splenectomy, which offers a more immediate and often sustained response [1]. *Prednisolone* - **Prednisolone** (corticosteroids) is often the **first-line treatment** for ITP due to its rapid immunosuppressive effects. - However, for **refractory ITP** (meaning it has not responded adequately to initial treatments), corticosteroids alone are usually insufficient to achieve long-term remission [1].

Q: A 65-year-old female with polycythemia vera on hydroxyurea for 2 years presents with painful bilateral leg ulcers for 3 months. She has well-controlled disease (Hct 42%), but recent CBC shows platelets 80,000/μL, WBC 3,500/μL. She also has diabetes (HbA1c 7.2%), peripheral vascular disease, and venous insufficiency. Doppler shows biphasic flow in dorsalis pedis. Most appropriate next step is:

Begin interferon-alpha. The patient's **leg ulcers** and **cytopenias** (leukopenia and thrombocytopenia) are likely due to **hydroxyurea toxicity**, despite controlled polycythemia vera (PV). **Interferon-alpha** is an appropriate alternative myelosuppressive agent for PV, especially in cases of hydroxyurea intolerance or toxicity, allowing for resolution of adverse effects while maintaining disease control. Continuing hydroxyurea is **contraindicated** as the ulcers are strongly suggestive of a drug-related adverse effect, and her cytopenias indicate bone marrow suppression. Aggressive **wound care** is necessary but will not resolve the underlying cause if hydroxyurea is the culprit. While **ruxolitinib** is approved for PV, it is typically reserved for patients who are **intolerant to or whose disease is refractory to hydroxyurea**, and who also have **splenomegaly or symptoms** that are not present here. Furthermore, ruxolitinib can cause **cytopenias**, which might worsen her current blood counts. **Busulfan** is an alkylating agent that can be used in PV, but it is generally reserved for **elderly patients** who are unable to tolerate other drugs due to its potential for severe adverse effects including **myelosuppression** and **pulmonary fibrosis**. Given her current cytopenias, busulfan could exacerbate her bone marrow suppression.

Q: Hyperviscosity is seen in all, except:

MGUS. ***MGUS*** - **Monoclonal gammopathy of undetermined significance (MGUS)** is characterized by a low concentration of **M-protein** in the blood, which is generally not sufficient to cause significant hyperviscosity. - While it is a precursor to multiple myeloma, the lack of end-organ damage and lower M-protein levels mean hyperviscosity syndrome is **rarely seen** in MGUS. *Cryoglobulinemia* - **Cryoglobulins** are immunoglobulins that precipitate at cold temperatures, leading to increased blood viscosity, especially in cooler body parts. - This precipitation can cause symptoms like **Raynaud's phenomenon**, **cutaneous vasculitis**, and **neuropathy**. *Lymphoma* - Certain lymphomas, particularly those producing **large amounts of monoclonal immunoglobulins** (e.g., Waldenström macroglobulinemia, which is a low-grade B-cell lymphoma), can lead to hyperviscosity syndrome [1]. - The elevated protein levels directly increase the **viscosity of the blood**, impairing blood flow [1]. *Multiple myeloma* - Multiple myeloma involves the overproduction of **monoclonal immunoglobulins (M-proteins)** by plasma cells, leading to high protein concentrations in the blood [1]. - These elevated proteins significantly increase blood viscosity, contributing to the symptoms of **hyperviscosity syndrome**, such as visual disturbances, neurological symptoms, and bleeding diathesis [1].

Q: A patient presented with headache and fever. His investigations revealed hemoglobin of 16g/dl, TLC of 21,000/uL, platelet count of 375,000. His DLC showed Neutrophils (25%), Lymphocytes (20%), Metamyelocytes and myelocytes 40% and eosinophils 5%. Which of the following is the next best investigation in this patient?

Philadelphia chromosome. ***Philadelphia chromosome*** - The presence of **metamyelocytes and myelocytes** (immature myeloid forms) in peripheral blood, along with **leukocytosis** (TLC 21,000/uL), is highly suggestive of **Chronic Myeloid Leukemia (CML)**. - The **Philadelphia chromosome (BCR-ABL1 fusion gene)** is the hallmark genetic abnormality in CML, and its detection is crucial for diagnosis and guiding targeted therapy with tyrosine kinase inhibitors [1]. *JAK 2 mutation* - **JAK2 mutations** are primarily associated with other **myeloproliferative neoplasms** such as **Polycythemia Vera**, **Essential Thrombocythemia**, and **Primary Myelofibrosis** [2]. - While leukocytosis can occur in these conditions, the specific presence of a high percentage of early myeloid precursors (metamyelocytes and myelocytes) points away from primary JAK2-driven disorders and more towards CML. *Bone marrow biopsy* - A **bone marrow biopsy** is usually performed after a strong suspicion of a hematological malignancy has been established, often following preliminary investigations like flow cytometry or cytogenetics on peripheral blood. - While it will be part of the diagnostic work-up for CML, identifying the Philadelphia chromosome on peripheral blood is the **next best initial step** to confirm the specific diagnosis and plan further management. *EPO level* - Serum **Erythropoietin (EPO)** levels are primarily used in the diagnosis and differentiation of **polycythemia** (high red blood cell count). - In this patient, the hemoglobin is within the normal range (16 g/dL), and the clinical picture is dominated by leukocytosis with immature myeloid forms, making EPO levels less relevant as the next investigative step.

Q: A 40-year-old male experiences hot flushes during bathing. Hb: 20 g/dL, Platelet: 89,000/mL, WBC: 30,000/mL. Investigation revealed JAK2 mutation. What is the most likely diagnosis?

PCV. PCV - **Polycythemia vera (PCV)** is characterized by an elevated red blood cell count (**Hb: 20 g/dL**), often accompanied by thrombocytosis and leukocytosis [2]. - The presence of **JAK2V617F mutation** and **aquagenic pruritus** (hot flushes during bathing) are classic diagnostic features of PCV [2]. *PMF* - **Primary myelofibrosis (PMF)** typically presents with **pancytopenia** or **anemia with leukocytosis/thrombocytosis**, often with **splenomegaly** due to extramedullary hematopoiesis [1]. - While a **JAK2 mutation** can be present, the prominent feature of **extreme erythrocytosis** observed here is not typical for PMF [1]. *CML* - **Chronic myeloid leukemia (CML)** is defined by the presence of the **Philadelphia chromosome (BCR-ABL1 fusion gene)**, which is not mentioned in the patient's presentation. - CML primarily involves a dramatic increase in **granulocytes** and their precursors, with **anemia** being common, but not the marked erythrocytosis seen here. *Essential thrombocythemia* - **Essential thrombocythemia (ET)** is characterized primarily by a persistent and unexplained **elevated platelet count**. - Although it can be associated with a **JAK2 mutation**, the presence of an **exceptionally high hemoglobin level** and **leukocytosis** points away from a primary diagnosis of ET.

Q: A patient presents with elevated serum iron, low TIBC, and high ferritin. Which of the following conditions is most likely?

Hemochromatosis. ***Hemochromatosis*** - **Hereditary hemochromatosis** is characterized by excessive iron absorption, leading to **iron overload** in tissues and organs [1][3]. - The classic lab findings include **elevated serum iron**, **elevated ferritin** (reflecting increased iron stores), and **low total iron-binding capacity (TIBC)** due to increased iron saturation of transferrin [1]. *Lead poisoning* - **Lead poisoning** can cause **microcytic anemia** due to inhibition of heme synthesis enzymes, but it does not typically present with elevated serum iron or ferritin. - It's more commonly associated with **basophilic stippling** on peripheral blood smear and **elevated lead levels** in the blood. *Acute hepatitis* - **Acute hepatitis** can cause an elevation in **ferritin** as an acute phase reactant due to inflammation and liver cell damage [1]. - However, it typically does not present with simultaneously **elevated serum iron** and **low TIBC** in the same pattern as hemochromatosis, and iron metabolism disorders are not its primary feature. *Iron-deficiency anemia* - **Iron-deficiency anemia** is characterized by **low serum iron**, **low ferritin** (reflecting depleted iron stores), and **elevated TIBC** as the body tries to maximize iron absorption [2]. - These findings are directly opposite to the laboratory values presented in the question [2].

Q: All of the following are causes of normocytic anemia, EXCEPT:

Iron deficiency. ***Iron deficiency*** - **Iron deficiency anemia** is typically a **microcytic hypochromic anemia**, meaning red blood cells are smaller than normal with reduced hemoglobin [1], [2]. - While it can initially present with normocytic indices in very early stages or mixed deficiencies, it classically causes microcytosis as it progresses [2]. *Hemolysis* - **Hemolytic anemias** usually present as **normocytic anemias** because the red blood cells are destroyed prematurely without affecting their size. - The bone marrow compensates by releasing new but normally sized red blood cells. *Aplastic anemia* - **Aplastic anemia** is characterized by bone marrow failure, leading to a decrease in all blood cell lines, including red blood cells, which are typically **normocytic** in size. - The problem is insufficient production, not abnormal cell size. *Chronic kidney disease* - **Anemia of chronic kidney disease** is commonly a **normocytic, normochromic anemia** due to decreased erythropoietin production by the kidneys [1]. - Erythropoietin stimulates red blood cell production in the bone marrow, so its deficiency leads to fewer, but normally sized, red blood cells.

Question 1

Factor V mutation most commonly initially presents as:-

Accepted Answer

Deep Vein Thrombosis (DVT)

Answer

Thrombosis

Answer

Disseminated Intravascular Coagulation (DIC)

Answer

Pulmonary Embolism

Question 2

Which of the following is not true regarding Von Willebrand disease?

Accepted Answer

Hemarthrosis is the usual presentation

Answer

Normal platelet count

Answer

Quantitative defects are seen in subtypes 1 and 3 von Willebrand disease

Answer

Produced by endothelial cells

Question 3

Which of the following hematological problems may be precipitated by parvovirus?

Accepted Answer

Aplastic crisis

Answer

Hemolytic crisis

Answer

Thrombocytopenia

Answer

Pancytopenia

Question 4

Which of the following is the best treatment for refractory ITP?

Accepted Answer

Splenectomy

Answer

Platelet transfusion

Answer

Azathioprine

Answer

Prednisolone

Question 5

A 65-year-old female with polycythemia vera on hydroxyurea for 2 years presents with painful bilateral leg ulcers for 3 months. She has well-controlled disease (Hct 42%), but recent CBC shows platelets 80,000/μL, WBC 3,500/μL. She also has diabetes (HbA1c 7.2%), peripheral vascular disease, and venous insufficiency. Doppler shows biphasic flow in dorsalis pedis. Most appropriate next step is:

Accepted Answer

Begin interferon-alpha

Answer

Continue hydroxyurea with aggressive wound care

Answer

Switch to ruxolitinib

Answer

Switch to busulfan

Question 6

Hyperviscosity is seen in all, except:

Accepted Answer

MGUS

Answer

Cryoglobulinemia

Answer

Lymphoma

Answer

Multiple myeloma

Question 7

A patient presented with headache and fever. His investigations revealed hemoglobin of 16g/dl, TLC of 21,000/uL, platelet count of 375,000. His DLC showed Neutrophils (25%), Lymphocytes (20%), Metamyelocytes and myelocytes 40% and eosinophils 5%. Which of the following is the next best investigation in this patient?

Accepted Answer

Philadelphia chromosome

Answer

JAK 2 mutation

Answer

Bone marrow biopsy

Answer

EPO level

Question 8

A 40-year-old male experiences hot flushes during bathing. Hb: 20 g/dL, Platelet: 89,000/mL, WBC: 30,000/mL. Investigation revealed JAK2 mutation. What is the most likely diagnosis?

Accepted Answer

PCV

Answer

PMF

Answer

CML

Answer

Essential thrombocythemia

Question 9

A patient presents with elevated serum iron, low TIBC, and high ferritin. Which of the following conditions is most likely?

Accepted Answer

Hemochromatosis

Answer

Lead poisoning

Answer

Acute hepatitis

Answer

Iron-deficiency anemia

Question 10

All of the following are causes of normocytic anemia, EXCEPT:

Accepted Answer

Iron deficiency

Answer

Hemolysis

Answer

Aplastic anemia

Answer

Chronic kidney disease

Hematology — MCQs

Hematology — MCQs

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