All trans retinoic acid is used in the treatment of acute promyelocytic leukemia (APL) associated with which genetic mutation?
A 23-year-old male presented with a history of fatigue and tiredness. On investigation, he was found to have Hb values of 9gm%, MCV of 101 FL. Peripheral smear examination showed hypersegmented neutrophils. Which is the most probable etiology?
30 years old came with complaints of easy fatigability, exertional dyspnea, and weight loss. She also complains of frequent falls. physical examination revealed there was a bilateral decrease in vibration sense. Her hemoglobin levels were 8.2g%. She was treated with folate. Her anemia improved but neurological symptoms worsened. Which of the following is the most probable reason for her condition?
Which of the following statements about deep venous thrombosis (DVT) is incorrect?
A 50-year-old man presents with paresthesia. HB-6.8g/dl. Peripheral smear shows macrocytosis and neutrophils with hypersegmented nuclei. Endoscopy reveals atrophic gastritis. What is the most probable diagnosis?
In which of the following conditions is marked bleeding typically observed?
What is the first-line treatment for severe or chronic idiopathic thrombocytopenia purpura (ITP)?
Whole blood is used as a sample for which test?
Which of the following statements is true regarding Hemophilia A?
Which of the following can result in dactylitis
Explanation: ***PML-RARA fusion gene*** - The **PML-RARA fusion gene** is the hallmark genetic abnormality in **acute promyelocytic leukemia (APL)**, which results from a **t(15;17) chromosomal translocation** [1]. - **All-trans retinoic acid (ATRA)** targets the PML-RARA fusion protein, inducing differentiation of the immature promyelocytes and promoting remission in APL patients. *BCR-ABL fusion gene* - The **BCR-ABL fusion gene** is associated with **chronic myeloid leukemia (CML)**, resulting from the **Philadelphia chromosome (t(9;22))** [2]. - While a target for therapy, it is treated with **tyrosine kinase inhibitors (TKIs)**, not ATRA [2]. *CMYC gene alteration* - **CMYC alterations**, such as translocations, are characteristic of **Burkitt lymphoma** and some cases of diffuse large B-cell lymphoma [2]. - These alterations are not specifically associated with APL or sensitive to ATRA therapy. *CEBPA mutation* - **CEBPA mutations** are found in a subset of patients with **acute myeloid leukemia (AML)**, particularly those with a normal karyotype. - While relevant to AML prognosis and treatment stratification, these mutations do not define APL or respond to ATRA.
Explanation: ***Lead poisoning*** - Characterized by **microcytic anemia** and the presence of **hypersegmented neutrophils**, often related to **lead-induced interference** with heme synthesis [2]. - It frequently presents with symptoms of **fatigue**, and the laboratory findings align with lead's known hematological effects [1]. *Hemolytic anemia* - Typically features **normocytic or macrocytic RBCs** following destruction of red blood cells rather than microcytic. - Symptoms usually include **jaundice** and **dark urine**, which are absent in this case. *Iron deficiency anemia* - Generally presents with **microcytic hypochromic RBCs** but would not show **hypersegmented neutrophils**. - Associated with external factors like **malnutrition** or chronic blood loss, which were not indicated in this scenario. *Chronic alcoholism* - Commonly leads to **macrocytic anemia** due to folate deficiency, rather than microcytic anemia seen here. - Symptoms usually include **liver dysfunction** signs, which are not mentioned in this case.
Explanation: ***Folate therapy caused rapid use of Vit B12 stores aggravating symptoms*** - This patient likely has **Vitamin B12 deficiency**, which presents with **macrocytic anemia** and **neurological symptoms** like decreased vibration sense and frequent falls [1]. - While folate improves the anemia by allowing erythrocyte maturation, it can **deplete existing B12 stores** and worsen neurological symptoms in the presence of an underlying B12 deficiency [1]. *Vitamin B6 deficiency unmasked by folate treatment.* - **Vitamin B6 deficiency** can cause **microcytic anemia** and neuropathies, but it is not typically associated with the macrocytic anemia and specific neurological deterioration seen here after folate treatment. - Folate treatment itself does not directly unmask or worsen B6 deficiency in this manner. *Impaired folate metabolism in the central nervous system.* - Impaired folate metabolism in the CNS is rare and usually associated with specific genetic disorders or malformations, which does not explain the initial **macrocytic anemia** or the paradoxical worsening of neurological symptoms with folate. - The improvement in anemia with folate suggests that the central problem was not primarily impaired folate metabolism itself. *Malabsorption of folate due to gastrointestinal issues.* - If **folate malabsorption** was the primary issue, folate supplementation would not have improved the anemia, contrary to what is described in the case. - This option does not explain the worsening neurological symptoms after folate treatment.
Explanation: ***Mostly bilateral*** - DVT is typically **unilateral**, affecting one limb [2]. Bilateral DVT is less common, making this statement incorrect [2]. - The symptoms of **pain, swelling, and tenderness** are usually localized to one leg [1]. *Most common clinically presents as pain and tenderness in calf* - **Calf pain and tenderness** are common clinical presentations of DVT, especially in the lower extremities [1]. - Other common signs include **swelling, warmth, and redness** in the affected leg [1]. *Some cases may directly present as pulmonary thromboembolism* - A significant concern with DVT is that a **clot can dislodge** and travel to the lungs, causing a **pulmonary embolism (PE)**, which can be the initial presentation [1]. - PE is a potentially life-threatening complication and may present with **dyspnea, chest pain, and hemoptysis**. *Clinical assessment highly reliable* - **Clinical assessment alone is not highly reliable** for diagnosing DVT due to its variable and often non-specific presentation [2]. - A definitive diagnosis usually requires objective diagnostic tests such as **compression ultrasonography** or **D-dimer assay** [3].
Explanation: ***Vitamin B12 deficiency*** - The combination of **paresthesia** (neurological symptoms), **macrocytic anemia** (HB-6.8g/dl and macrocytosis), **hypersegmented neutrophils**, and **atrophic gastritis** is highly characteristic of vitamin B12 deficiency [1]. - **Atrophic gastritis** often leads to impaired intrinsic factor production, which is essential for vitamin B12 absorption [1]. *Riboflavin deficiency* - Riboflavin (B2) deficiency primarily causes **cheilosis**, **angular stomatitis**, **glossitis**, and **seborrheic dermatitis**, not macrocytic anemia or neurological symptoms. - It does not cause hypersegmented neutrophils or atrophic gastritis. *Iron deficiency* - Iron deficiency typically causes **microcytic, hypochromic anemia**, which is characterized by small, pale red blood cells, not macrocytosis or hypersegmented neutrophils. - Neurological symptoms like paresthesia are uncommon, and atrophic gastritis is not a direct consequence. *Folate deficiency* - Folate deficiency can cause **macrocytic anemia** and **hypersegmented neutrophils**, similar to vitamin B12 deficiency [2]. - However, it typically **does not cause neurological symptoms** like paresthesia, which are a hallmark of B12 deficiency, and is not directly linked to atrophic gastritis in the same way B12 deficiency is [2].
Explanation: ***ALL*** - **Acute Lymphoblastic Leukemia (ALL)** often presents with significant **thrombocytopenia**, leading to **marked bleeding** due to the low platelet count. - The disease disrupts normal hematopoiesis in the bone marrow, contributing to leukopenia and anemia, which may also result in bleeding complications [1]. *Haemophilia B* - This condition is characterized by a deficiency of **Factor IX**, leading to bleeding, but typically presents with **mild to moderate** bleeding rather than marked bleeding [1]. - Bleeding often occurs following trauma or surgery, unlike the more significant bleeding seen in ALL [1]. *VMA disease* - VMA disease (likely referring to **Vanillylmandelic Acid**), associated with **neuroblastoma**, does not primarily cause bleeding issues but rather is related to catecholamine excretion. - Symptoms are more aligned with **tumor-related effects** rather than coagulopathy or bleeding diathesis. *Haemophilia A* - Similar to Haemophilia B, it involves a deficiency of a clotting factor (**Factor VIII**) and can cause bleeding, but it usually results in **moderate bleeding** rather than marked bleeding [1]. - Bleeding is generally more controlled, relating to specific injury rather than spontaneous significant hemorrhage [1].
Explanation: ***Corticosteroid therapy*** - **Corticosteroids** are the cornerstone of first-line treatment for severe or chronic ITP due to their ability to suppress the **autoimmune destruction of platelets** [1]. - They work by reducing antibody production, improving platelet survival, and stabilizing endothelial integrity, thereby **decreasing bleeding risk** [1]. *Platelet transfusion* - **Platelet transfusions** are generally reserved for **life-threatening hemorrhage** in ITP, as transfused platelets are quickly destroyed by the same autoantibodies. - They are not a first-line treatment for chronic management because they do not address the underlying **immune-mediated destruction**. *Observation and monitoring* - **Observation and monitoring** may be appropriate for patients with **mild ITP** (platelet count >30,000/µL) and no significant bleeding symptoms. - However, for **severe or chronic ITP**, active treatment is required to prevent serious bleeding complications. *Splenectomy* - **Splenectomy** is a treatment option for **refractory ITP**, typically considered after failure of first-line therapies like corticosteroids [1]. - The spleen is the primary site of antiplatelet antibody production and platelet destruction, so its removal can be effective but carries surgical risks and is not an initial approach [1].
Explanation: **Complete Blood Count (CBC)** - A **CBC** directly analyzes the cellular components of blood (red blood cells, white blood cells, and platelets) which are found suspended in **whole blood**. [1] - It provides information on cell counts, sizes, and hemoglobin concentration, requiring the complete, unaltered blood mixture for accurate results. [3] *Interferon Gamma Release Assay (IGRA)* - IGRAs typically use **whole blood** in specialized collection tubes, but they are not measuring components *within* the whole blood itself. - Instead, they detect **interferon-gamma release** from T-cells stimulated by specific antigens, a cellular immune response assessed in a stimulated blood sample. *HIV ELISA* - **ELISA** (Enzyme-Linked Immunosorbent Assay) for HIV primarily detects **antibodies** or **antigens** in the blood. - For this, **plasma** or **serum** (the liquid components of blood after cells have been removed) is typically preferred over whole blood. *Blood Culture for Bacterial Infections* - **Blood cultures** require whole blood to be inoculated directly into specific culture media. [2] - The goal is to grow and identify **live bacteria** circulating in the bloodstream, making whole blood essential, but it is incorrect when compared to the direct cellular analysis of a CBC.
Explanation: ***Serum levels of factor VIII are decreased*** - Hemophilia A is characterized by a **deficiency of factor VIII** [1], which leads to decreased serum levels of this factor. - This deficiency results in a **prolonged activated partial thromboplastin time (aPTT)** [3] but normal prothrombin time (PT). *Deficiency of factor IX* - This escribes **Hemophilia B**, which is caused by a deficiency of factor IX, not factor VIII as in Hemophilia A [1]. - Hemophilia A specifically refers to the **deficiency of factor VIII** [1][2], where factor IX is not involved. *PT increased* - In Hemophilia A, the **prothrombin time (PT)** is usually normal because the intrinsic pathway is not affected [3]. - The primary test affected is the **activated partial thromboplastin time (aPTT)**, which is prolonged due to factor VIII deficiency [3]. *FIT decreased* - The term "FIT" is not standard in the context of hemophilia; it might refer to some other tests or assessments not directly relevant to factor levels. - The relevant lab finding in Hemophilia A is the **decrease in factor VIII** [2], not a direct measure of "FIT".
Explanation: ***Sickle Cell Anemia*** - **Dactylitis**, often referred to as **hand-foot syndrome**, is a common early manifestation of **sickle cell anemia** in infants and young children [2]. - It results from **vaso-occlusion** in the small bones of the hands and feet, leading to **inflammation, pain, and swelling**. *Hemophilia* - Hemophilia is a bleeding disorder characterized by a deficiency in certain **clotting factors**, leading to uncontrolled bleeding. - It primarily causes **hemarthrosis** (bleeding into joints) and muscle hematomas, but not dactylitis. *Measles* - Measles is a viral infection characterized by a distinctive **rash, fever, cough, coryza, and conjunctivitis**. - It does not directly cause dactylitis; musculoskeletal symptoms are not typical of measles. *Von Willebrand disease* - This is the most common **inherited bleeding disorder**, caused by a deficiency or dysfunction of **von Willebrand factor** [1]. - Similar to hemophilia, it primarily manifests with **mucocutaneous bleeding** and **menorrhagia**, not dactylitis.
Anemia Evaluation and Management
Practice Questions
Hemoglobinopathies
Practice Questions
Thalassemias
Practice Questions
Platelet Disorders
Practice Questions
Coagulation Disorders
Practice Questions
Thrombotic Disorders
Practice Questions
Leukemias
Practice Questions
Lymphomas
Practice Questions
Multiple Myeloma and Plasma Cell Disorders
Practice Questions
Myeloproliferative Neoplasms
Practice Questions
Transfusion Medicine
Practice Questions
Hematopoietic Stem Cell Transplantation
Practice Questions
Get full access to all questions, explanations, and performance tracking.
Start For Free