Bone Marrow Failure &
Myeloproliferative Disorders
Myeloproliferative Disorders
Aplastic anemia can be caused by exposure to this type of radiation, which is also used in cancer treatment.
What is ionizing radiation?
This type of leukemia is characterized by an overproduction of mature, but dysfunctional, B lymphocytes.
What is Chronic Lymphocytic Leukemia (CLL)?
This type of lymphoma is characterized by the presence of Reed-Sternberg cells, which are large, abnormal cells found in the lymph nodes.
What is Hodgkin lymphoma?
This genetic disorder affects red blood cells, making them more vulnerable to destruction under certain conditions, such as exposure to certain medications or foods.
What is G6PD deficiency?
Factor V Leiden mutation leads to resistance to this natural anticoagulant, which normally inactivates clotting factors to prevent excessive clot formation.
What is activated protein C (APC)?
A common symptom of polycythemia vera is intense itching, which is often triggered by this everyday activity.
What is taking a hot shower?
A hallmark feature of ALL in the blood smear is the presence of these cells, which are abnormal, immature lymphocytes.
What are lymphoblasts?
This subtype of Non-Hodgkin Lymphoma is characterized by fast-growing B-cell lymphoma and is often associated with the presence of the MYC gene translocation, and is one of the most aggressive forms of NHL.
What is Burkitt lymphoma?
This disease-modifying medication is commonly used to reduce the frequency of pain crises and acute chest syndrome by increasing fetal hemoglobin levels.
What is hydroxyurea?
Besides genetic mutations, Protein S levels can be decreased in individuals with liver disease, pregnancy, or during treatment with this common anticoagulant medication.
What is warfarin?
This chemotherapy drug is commonly used to lower platelet counts in high-risk essential thrombocythemia patients.
What is hydroxyurea?
One of the most serious complications of AML, especially during chemotherapy, is this condition, characterized by the rapid release of cellular contents into the bloodstream.
What is tumor lysis syndrome?
A common complication of Waldenström macroglobulinemia, often seen due to the high levels of IgM antibodies, is this syndrome, which causes symptoms like blurred vision, headaches, and dizziness.
What is hyperviscosity syndrome?
This test, which measures red blood cell fragility in hypotonic solutions, is commonly used to diagnose hereditary spherocytosis.
What is the osmotic fragility test?
Patients with ATIII deficiency may show resistance to this common anticoagulant medication because it requires antithrombin to exert its full anticoagulant effect.
What is heparin?
These three therapies are used to stimulate the production of blood cells in MDS patients, often in an effort to manage symptoms of anemia, neutropenia, and thrombocytopenia, respectively.
What are Erythropoietin (EPO), Granulocyte Colony-Stimulating Factor (G-CSF), and Thrombopoietin (TPO)?
First-line treatment for CML typically involves this class drugs which specifically targets the BCR-ABL fusion protein.
What are tyrosine kinase inhibitors (TKIs)?
This chemotherapy regimen, commonly used for aggressive forms of NHL, includes cyclophosphamide, doxorubicin, vincristine, and prednisone. Each drug in this regimen can cause a distinct type of toxicity
What are:
First-line treatment for warm AIHA typically involves this class of medication, which suppresses the immune response and reduces hemolysis.
What are corticosteroids (e.g., prednisone)?
A 32-year-old woman presents with a history of recurrent miscarriages, deep vein thrombosis (DVT), and a recent transient ischemic attack (TIA). Laboratory testing reveals prolonged partial thromboplastin time (PTT) that does not correct with a mixing study. Further workup identifies positive lupus anticoagulant, anticardiolipin antibodies, and anti-beta-2 glycoprotein I antibodies on two occasions, 12 weeks apart.
The most likely diagnosis and The standard long-term anticoagulation therapy for patients with this condition and a history of thrombosis?
What is antiphospholipid syndrome (APS), and the treatment is long-term anticoagulation with warfarin (target INR 2-3 or 3-4 for recurrent events), with heparin and aspirin used during pregnancy?
A 28-year-old woman presents with fatigue, frequent infections, and unexplained bruising. Lab results show low red blood cells, white blood cells, and platelets. Bone marrow biopsy reveals hypocellularity, with a marked reduction in hematopoietic cells. She has no significant family history and no known exposure to toxins or radiation. Include diagnosis and treatment
What is Aplastic Anemia and bone marrow transplant (or stem cell transplant)?
A 50-year-old male presents with fatigue, night sweats, and unexplained weight loss. On examination, he has a markedly enlarged spleen and mild pallor. Laboratory results reveal a white blood cell count of 150,000/µL with a predominance of mature granulocytes, and a hemoglobin level of 10 g/dL. A bone marrow biopsy confirms hypercellularity with an increased granulocytic population. Cytogenetic testing reveals the presence of the Philadelphia chromosome (t(9;22) translocation).
What is the most appropriate first-line treatment for this patient to target the underlying genetic mutation and reduce his risk of progression?
What is imatinib (a tyrosine kinase inhibitor)?
A 68-year-old male presents with persistent back pain, fatigue, and increased thirst over the past two months. On examination, he has pallor and localized tenderness over his lower back. Laboratory tests reveal a serum calcium level of 12.5 mg/dL , a hemoglobin level of 9 g/dL, and an elevated serum protein level. A urine protein electrophoresis shows monoclonal light chains (Bence Jones proteins). A bone marrow biopsy confirms the presence of greater than 10% plasma cells. Imaging studies show multiple lytic bone lesions.
What is the most likely diagnosis, and what is the first-line treatment for this patient?
What is Multiple Myeloma, and the first-line treatment typically involves a combination of a proteasome inhibitor (e.g., bortezomib), an immunomodulatory drug (e.g., lenalidomide), and a corticosteroid (e.g., dexamethasone)?
A 35-year-old male presents with recurrent dark-colored urine in the morning, fatigue, and intermittent episodes of shortness of breath. Laboratory tests reveal hemoglobinuria, elevated lactate dehydrogenase (LDH), low haptoglobin, and a negative Coombs test. Flow cytometry shows a deficiency of CD55 and CD59 on red blood cells. The patient is also found to have thrombosis in the hepatic vein (Budd-Chiari syndrome), a known complication of this disorder.
the most likely diagnosis, and monoclonal antibody therapy is used to prevent hemolysis in this condition
What is Paroxysmal Nocturnal Hemoglobinuria (PNH), and the treatment is eculizumab, a monoclonal antibody that inhibits complement-mediated hemolysis?
A 50-year-old male presents with fatigue, joint pain, and darkened skin pigmentation. He also reports decreased libido and erectile dysfunction. Laboratory studies show elevated serum ferritin, high transferrin saturation, and mildly elevated liver enzymes. Genetic testing reveals a homozygous mutation in the HFE gene (C282Y/C282Y). A liver biopsy confirms iron deposition and mild fibrosis.
The most likely diagnosis, and the first-line treatment to reduce iron overload in this patient
What is hereditary hemochromatosis, and the treatment is therapeutic phlebotomy to remove excess iron?