Myloproliferative Flashcards
What are Myeloproliferative Disorders (MPDs)?
Group of diseases characterized by overproduction of one or more formed elements of the blood without significant dysplasia.
How does WHO classify MPDs?
WHO classifies MPDs into eight disorders.
What is a common feature of MPDs?
Predilection to extramedullary hematopoiesis
Which diseases express primarily a myeloid phenotype?
Chronic myelogenous leukemia (CML)
Which MPDs show erythroid or megakaryocytic hyperplasia?
Polycythemia vera (PV)
What is Polycythemia Vera (PV)?
A clonal disorder involving a multipotent hematopoietic progenitor cell
What is the incidence of PV?
2 per 100
What is the most common cytogenetic abnormality in PV?
Loss of heterozygosity on chromosome 9p due to mitotic recombination.
What mutation is central to the pathogenesis of PV?
JAK2 V617F mutation.
What percentage of PV patients express the JAK2 V617F mutation?
More than 90%.
What are common clinical features of PV?
Splenomegaly
What are some neurologic symptoms of PV?
Vertigo
What is a common vascular complication of PV?
Venous or arterial thrombosis
What is erythromelalgia?
A symptom complex of erythema
What metabolic complications can occur in PV?
Hyperuricemia
How is PV diagnosed?
By elevated hemoglobin
What is a key diagnostic criterion for PV?
Hemoglobin >16.5 g/dL in men or >16 g/dL in women.
What is the treatment goal for PV?
Maintain hemoglobin <14 g/dL in men and <12 g/dL in women to avoid thrombotic complications.
What is the role of phlebotomy in PV treatment?
Reduces hyperviscosity and induces iron deficiency to prevent red cell mass reexpansion.
What is the risk of hydroxyurea in PV treatment?
Risk of leukemogenesis.
What is Primary Myelofibrosis (PMF)?
A clonal disorder of a multipotent hematopoietic progenitor cell
What is the incidence of PMF?
It is the least common chronic MPD.
What are common cytogenetic abnormalities in PMF?
9p
What percentage of PMF patients have the JAK2 V617F mutation?
Approximately 50%.
What are common clinical features of PMF?
Splenomegaly
What is seen on blood smear in PMF?
Teardrop-shaped red cells
What are complications of PMF?
Marrow failure
What is the treatment for PMF?
No specific therapy; treatment focuses on managing symptoms and complications.
What is Essential Thrombocythemia (ET)?
A clonal disorder characterized by overproduction of platelets without a definable cause.
What is the incidence of ET?
1-2 per 100
What percentage of ET patients carry the JAK2 V617F mutation?
Approximately 50%.
What are diagnostic criteria for ET?
Platelet count >=450K
What are clinical features of ET?
Hemorrhagic and thrombotic tendencies
What is a common complication of very high platelet counts in ET?
Acquired von Willebrand disease.
What is the treatment for high-risk ET patients?
Cytoreductive therapy with a target platelet count of 100k-400k.
What is the role of aspirin in ET treatment?
Used for low-risk patients to prevent thrombosis.
What is the risk of hydroxyurea in ET treatment?
Risk of evolution to acute leukemia.
What is the survival rate of ET patients?
Similar to the general population.
What is the most significant complication of PV?
Thrombosis.
What is the role of erythropoietin in PV diagnosis?
Elevated levels suggest secondary erythrocytosis
What is the most common initial sign of PV?
Splenomegaly.
What is the most common cause of microcytic erythrocytosis?
β-thalassemia trait
What is the role of bone marrow biopsy in PV diagnosis?
It provides no specific diagnostic information but may show hypercellularity.
What is the most common cytogenetic abnormality in PV?
Loss of heterozygosity on chromosome 9p.
What is the role of JAK2 V617F mutation in PV?
It causes constitutive activation of the kinase
What is the most common presenting symptom of PV?
Incidental discovery of high hemoglobin.
What is the most common vascular complication in young women with PV?
Intraabdominal venous thrombosis.
What is the most common cause of death in PV patients?
Thrombosis involving vital organs.
What is the role of phlebotomy in PV treatment?
It reduces hyperviscosity and induces iron deficiency.
What is the most common metabolic complication in PV?
Hyperuricemia.
What is the most common symptom of PMF?
Splenomegaly.
What is the most common blood smear finding in PMF?
Teardrop-shaped red cells.
What is the most common complication of PMF?
Transformation to acute leukemia.
What is the most common cytogenetic abnormality in PMF?
Trisomy 8 or 9.
What is the most common treatment for PMF?
Supportive care
What is the most common symptom of ET?
Asymptomatic
What is the most common complication of ET?
Thrombosis or hemorrhage.
What is the most common treatment for high-risk ET patients?
Cytoreductive therapy.
What is the most common mutation in ET?
JAK2 V617F mutation.
What is the most common blood smear finding in ET?
High platelet count with large platelets.
What is the most common cause of acquired von Willebrand disease in ET?
Very high platelet counts.
What is the most common treatment for low-risk ET patients?
Low-dose aspirin.
What is the most common complication of hydroxyurea in ET?
Risk of evolution to acute leukemia.
What is the most common cause of death in ET patients?
Thrombosis or hemorrhage.
What is the most common symptom of PV in young women?
Intraabdominal venous thrombosis.
What is the most common symptom of PV in older patients?
Neurologic symptoms such as vertigo and headache.
What is the most common symptom of PMF in older patients?
Night sweats and weight loss.
What is the most common symptom of ET in older patients?
Thrombotic events such as TIAs.
What is the most common cause of erythrocytosis in PV?
Constitutive activation of JAK2.
What is the most common cause of thrombocytosis in ET?
Overproduction of platelets due to clonal disorder.
What is the most common cause of myelofibrosis in PMF?
Unknown
What is the most common cause of splenomegaly in MPDs?
Extramedullary hematopoiesis.
What is the most common cause of hyperuricemia in MPDs?
Increased turnover of hematopoietic cells.
What is the most common cause of thrombosis in PV?
Increased blood viscosity due to elevated red cell mass.
What is the most common cause of hemorrhage in ET?
Acquired von Willebrand disease due to high platelet counts.
What is the most common cause of anemia in PMF?
Ineffective erythropoiesis and splenic sequestration.
What is the most common cause of leukocytosis in ET?
Mild neutrophilic leukocytosis.
What is the most common cause of thrombocytopenia in PMF?
Marrow failure.
What is the most common cause of splenic infarction in PMF?
Rapid splenic enlargement.
What is the most common cause of portal hypertension in PMF?
Extramedullary hematopoiesis.
What is the most common cause of gout in MPDs?
Hyperuricemia due to increased cell turnover.
What is the most common cause of visual disturbances in PV?
Hyperviscosity.
What is the most common cause of easy bruising in ET?
Hemorrhagic tendencies.
What is the most common cause of TIAs in ET?
Microvascular occlusions.
What is the most common cause of weight loss in PMF?
Hypermetabolism.
What is the most common cause of fatigue in PMF?
Anemia and hypermetabolism.
What is the most common cause of night sweats in PMF?
Hypermetabolism.
What is the most common cause of ascites in PMF?
Extramedullary hematopoiesis.
What is the most common cause of pulmonary hypertension in PMF?
Extramedullary hematopoiesis.
What is the most common cause of spinal cord compression in PMF?
Extramedullary hematopoiesis.
What is the most common cause of skin nodules in PMF?
Extramedullary hematopoiesis.
What is the most common cause of pericardial tamponade in PMF?
Extramedullary hematopoiesis.
What is the most common cause of intestinal obstruction in PMF?
Extramedullary hematopoiesis.
What is the most common cause of ureteral obstruction in PMF?
Extramedullary hematopoiesis.
What is the most common cause of intracranial hypertension in PMF?
Extramedullary hematopoiesis.
What is the most common cause of osteosclerosis in PMF?
Marrow fibrosis.
What is the most common cause of elevated lactate dehydrogenase in PMF?
Increased cell turnover.
What is the most common cause of elevated alkaline phosphatase in PMF?
Extramedullary hematopoiesis.
What is the most common cause of fever in PMF?
Splenic infarction.
What is the most common cause of pleuritic chest pain in PMF?
Splenic infarction.
