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THE PARADOXICAL RBCTHE PARADOXICAL RBC
MEDICINE GRANDROUNDSDecember 2, 2010
Presented by: Suzanne V. Santos, M.D.Moderator: Jesus A. Relos, M.D., FPCP
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ObjectivesObjectives1. To discuss the diagnostic approach
in a patient presenting with erythrocytosis and thrombocytosis.
2. To present an unusual case of Beta Thalassemia intermedia with possible concurrent polycythemia vera.
3. To discuss the pathophysiology, diagnosis and treatment of polycythemia vera and beta thalassemia and their risk for thrombotic events.
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General DataGeneral Data
A.B. 56 year old maleSeaman
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Chief ComplaintChief Complaint
Headache
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History of Present History of Present IllnessIllness14 years PTC elevated BP 150-160/80 (1995) occasional headache
Consultation done: Dx. Hypertension stage II
10 years PTC Dx: Dyslipidemia(2005) Hyperuricemia
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History of Present History of Present IllnessIllness3 months PTC occipital headache, (Oct. 2009) throbbing, grade 5-
6/10 consultation: CBC: elevated Hgb (19.3), Hct (60) Blood volume studies Referral to hematologist
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Review of SystemsReview of SystemsNo feverNo weight lossNo loss of appetiteNo dizzinessNo nausea/vomitingNo easy bruisabilityNo bleeding tendenciesNo mouth soresNo skin rashesNo hair loss
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Past Medical HistoryPast Medical HistoryHypertensive for 14 years
Usual BP 120-130/80, Highest BP 160/90Maintenance: Losartan 100mg/tab, 1 tab OD Amlodipine 10mg/tab, 1 tab OD Imidapril 10mg/tab, 1 tab OD
Chronic Kidney Disease x 1 year, Rx: Sodium Bicarbonate 650mg/tab, 1 tab BID
Dyslipidemia for 10 years Simvastatin 80mg/tab, 1 tab ODHSHyperuricemia for 10 yrs, on Allopurinol
300mg/tab 1 tab OD
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Non-smokerOccasional Alcoholic Beverage Drinker
No history of Illicit Drug Use
Personal/Social HistoryPersonal/Social History
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Unremarkable
Family HistoryFamily History
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Physical ExaminationPhysical ExaminationBP: 130/90, CR: 74 bpm regular, R: 20 cpm,
T: 36.8C Ht: 167.64 cm, Wt: 68 kg, BMI: 24 kg/m2
General appearance: conscious, coherent, not in cardiorespiratory distress, ambulatory, oriented to 3 spheres
Skin: flushed, moist skin, no rashes over face or body
HEENT: plethoric, pink palpebral conjunctivae, anicteric sclerae, no nasoaural discharge, no cervical lymphadenopathy, no palpable neck mass, thyroid not enlarged
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Physical ExaminationPhysical ExaminationCHEST and LUNGS: symmetrical chest
expansion, no retractions, clear breath sounds, no crackles or rhonchi, no wheeze
HEART: quiet precordium, apex beat at 5th ICS left mid clavicular line, regular rate and rhythm, no murmurs. No S3, No S4 gallop, S1>S2 apex, S2>S1 base, JVP at 9 cm, distinct heart sounds
ABDOMEN: Flabby abdomen, soft, nontender, normoactive bowel sounds, no hepatosplenomegaly
EXTREMITIES: no cyanosis, no edema, full and equal pulses, no nail changes, no tender or swollen joints
Neurological Examination: essentially normal
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Salient FeaturesSalient Features56 year old maleHeadacheElevated blood
volume studies14 yrs history of
elevated BP10 yrs history of
hyperuricemiaNon smoker
PlethoricHgb 19.3, Hct 60
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Initial Clinical Initial Clinical ImpressionImpressionMyeloproliferative Disorder
probably Polycythemia VeraHypertensive Cardiovascular
DiseaseDyslipidemiaHyperuricemiaChronic Kidney Disease probably
secondary to Hypertensive Nephrosclerosis
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Definition of TermsDefinition of TermsHemoglobin (Hgb): concentration of the
major oxygen-carrying pigment in whole blood; tetramer consisting of a pair of α-like chains andβ-like chains
Hematocrit (HCT): percentage of a sample of whole blood occupied by intact red blood cells.
RBC count: number of red blood cells contained in a specified volume of whole blood.
Erythrocytosis: increased red cell massPolycythemia: hemoglobin, red blood cell
(RBC) count, and total RBC volume are all above normal.
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Definition of TermsDefinition of TermsHemoglobin (Hgb): concentration of
the major oxygen-carrying pigment in whole blood; tetramer consisting of a pair of α-like chains andβ-like chains
Hematocrit (HCT): percent of a sample of whole blood occupied by intact red blood cells.
RBC count: number of red blood cells contained in a specified volume of whole blood.
Erythrocytosis: increased red cell massPolycythemia: any increase in red cells
Men: Hgb > 17 g/dL; Hct > 50%Women: Hgb > 15 g/dL; Hct > 45%
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Definition of TermsDefinition of Terms
Microcytosis: MCV < 80Macrocytosis MCV >100Hypochromia: low values of MCH and MCHC
MCV: volume of the average circulating RBCMCH: hemoglobin content of the average circulating RBCMCHC: hemoglobin concentration within circulating RBC
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Problem: Problem: Erythrocytosis & Erythrocytosis & ThrombocytosisThrombocytosisDATE 2/3/0
92/10/09
2/19/09
Hgb 19.3 H
17.60 H
14.5
Hct 60 H
55.90 H
46.8
RBC 7.92 7.47 H
6.27
WBC 9.86 10.54 9.55
Segs 76 65 65
lymph
20 25 30
eos 1 1
monos
8 9 2
Plt 334K 459K H
427K
MCV 74.8 L
74.6 L
MCH 23.6 L
23.1 L
MCHC
31.5 L
31 L
RDW 17.3 H
15.8 H
Phlebotomy: 1st consult
(2/3/09) 3rd consult (2/5/09)
10th consult (2/12/09)
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Complete Blood CountComplete Blood Count2/11/10
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Problem: Problem: Erythrocytosis & Erythrocytosis & ThrombocytosisThrombocytosis
Cranial CT scan without contrast: (Feb. 16, 2010)Suspicious small infarct, anterior limb of the right internal capsule. Microvascular disease.Atherosclerotic disease of the vertebro-basilar and internal carotid arteries.
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Problem: Problem: Erythrocytosis & Erythrocytosis & ThrombocytosisThrombocytosis
WHO Classification of Chronic Myeloproliferative Disorders (Neoplasm)
Chronic Myelogenous LeukemiaChronic Idiopathic MyelofibrosisEssential ThrombocytosisPolycythemia Vera
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Problem: Problem: Erythrocytosis & Erythrocytosis & ThrombocytosisThrombocytosis
WHO Classification of Chronic Myeloproliferative Disorders
Chronic Myelogenous LeukemiaChronic Idiopathic MyelofibrosisPolycythemia Vera
Chronic Myelogenous Leukemia
• translocation between chromosome 9 and 22 resulting in fusion of the BCR gene on chromosome 22q11 with the ABL gene on chromosome 9q34• elevated WBC, plt count • low LAP score
Patient• Detection of BCR-ABL Gene Fusion by FISH (4/12/10): 1% found positive• normal WBC• high LAP score at 189
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Problem: Problem: Erythrocytosis & Erythrocytosis & ThrombocytosisThrombocytosis
WHO Classification of Chronic Myeloproliferative Disorders
Chronic Myelogenous LeukemiaChronic Idiopathic MyelofibrosisPolycythemia VeraChronic Idiopathic
Myelofibrosis• marrow fibrosis, extramedullary hematopoiesis, splenomegaly• Blood smear: teardrop-shaped red cells, nucleated red cells, myelocytes, promyelocytes
Patient• Bone Marrow Biopsy done 3/31/10
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10-2949 BM10-2949 BMA.B. 56/Male
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Scanner 4x
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Low Power Objective, 10x
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High Power Objective 40x
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High Power Objective 40x
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Problem: Problem: Erythrocytosis & Erythrocytosis & ThrombocytosisThrombocytosis
Bone Marrow, Core Biopsy and Aspirate Smears (3/31/2010)
Normocellular bone marrow (40-50%) with orderly trilineage hematopoiesis.
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Problem: Problem: Erythrocytosis & Erythrocytosis & ThrombocytosisThrombocytosis
WHO Classification of Chronic Myeloproliferative Disorders (Neoplasm)
Chronic Myelogenous LeukemiaChronic Idiopathic MyelofibrosisEssential ThrombocytosisPolycythemia Vera
Essential Thrombocytosis• Elevated platelet count• hemorrhagic and thrombotic tendencies• mild neutrophilic leukocytosis• normal or elevated LAP score• Bone marrow biopsy reveals megakaryocyte hyperplasia and hypertrophy with increase in marrow cellularity
Patient• Platelet count not consistently elevated• elevated LAP score• Normal bone marrow biopsy
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Problem: Problem: Erythrocytosis & Erythrocytosis & ThrombocytosisThrombocytosis
Polycythemia Vera Study Group (PVSG)increased red blood cell mass (red cell volume >
36ml/kg) or increased hgb or hctDisorders causing secondary erythrocytosis are
absent.PVSG criteria: two basic criteria plus 2 of the ff.:Platelet count >400,000/microL White blood cell count >12,000/microLLAP score greater than 100Presence of a JAK2 gene mutation Bone marrow biopsy showing hypercellularity with
prominent erythroid, granulocytic, and megakaryocytic proliferation
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Problem: Problem: Erythrocytosis & Erythrocytosis & ThrombocytosisThrombocytosis
Polycythemia Vera Study Group (PVSG)increased red blood cell mass (red cell volume >
36ml/kg) or increased hgb or hctDisorders causing secondary erythrocytosis are
absent.PVSG criteria: two basic criteria plus 2 of the ff.:Platelet count >400,000/microL White blood cell count >12,000/microLLAP score greater than 100Presence of a JAK2 gene mutation Bone marrow biopsy showing hypercellularity with
prominent erythroid, granulocytic, and megakaryocytic proliferation
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Complete Blood CountComplete Blood Count
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Problem: Problem: Microcytic and Microcytic and Hypochromic RBCHypochromic RBC
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Hgb ElectrophoresisHgb Electrophoresis
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Problem: Problem: Microcytic and Microcytic and Hypochromic RBC Hypochromic RBC
Genetic Studies (May 6, 2010): No apparent chromosomal abnormality
Thalassemia Screening in the Philippines using High Performance Liquid Chromatography (HPLC) (July 9, 2010): HPLC tracing is indicative of beta-thalassemia, intermedia
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Polycythemia VeraPolycythemia Vera
Most common of the myeloproliferative disorders
Incidence: 2 per 100,000 personsEtiology: Unknown nonrandom chromosome
abnormalities such as 20q, trisomy 8, and 9p
JAK2 V617F mutation causing constitutive activation of the kinase
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Janus Kinase2-gene Janus Kinase2-gene (JAK2)(JAK2)
Janus Kinase 2 (JAK2) has tyrosine kinase activity and is involved in signal transduction from EPOR (erythropoietin receptor) to nucleus for gene expression
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Polycythemia Vera: Polycythemia Vera: Clinical Clinical FeaturesFeaturesSplenomegalyElevated Hgb and HctNeurologic symptoms: vertigo, tinnitus, headache, visual disturbances, TIAs
Systolic hypertensionVenous or arterial thrombosisIntraabdominal venous thrombosisDigital ischemia, easy bruising,
epistaxis, acid peptic disease or GI hemorrhage
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Polycythemia VeraPolycythemia Vera: : DiagnosisDiagnosis
Erythrocytosis, leukocytosis, thrombocytosis
Increased leukocyte alkaline phosphatase (LAP) score
HyperuricemiaElevated Vit B12 or B12 binding
capacityBMA: no specific diagnostic
informationNo specific cytogenetic abnormality
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Polycythemia VeraPolycythemia Vera: : ComplicationsComplications
Increase in blood viscosityIncreased turnover of red cells,
leukocytes and platelets with the attendant increases in uric acid and cytokine production
Spleenic infarctionIncreased incidence of acute
nonlymphocytic leukemiaerythromelalgia
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Polycythemia Vera: Polycythemia Vera: TreatmentTreatment
Phlebotomy or bloodletting has been the mainstay of therapy.
Elevated platelet counts may be exacerbated by phlebotomy, thus is an indication to use myelosuppressive agents to avoid thrombotic or hemorrhagic complications.
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Polycythemia Vera: Polycythemia Vera: TreatmentTreatment
Hydroxyurea has been the mainstay therapy after the PVSG results indicated it as an effective agent for myelosuppression. The role of HU in leukemic transformation is not clear, but several nonrandomized studies have supported or refuted a significant rise in leukemic conversion with long term use of HU in persons with polycythemia vera (from 2.1% to 10%).
Besa, Emmanuel, M.D., and Woermann, Ulrich, M.D. Polycythemia Vera: Treatment and Medication. January 23, 2009.
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Thalassemia SyndromesThalassemia Syndromes
Inherited disorders of α or β globin biosynthesis, diminished production of Hgb tetramers
Unbalanced chain accumulationMassive bone marrow expansion
deranges growth and development (“chipmunk” facies)
Chronic transfusion leads to iron overload
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Thalassemia SyndromesThalassemia Syndromes
α Thalassemiaβ Thalassemia
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β Thalassemiaβ Thalassemiaβ Thalassemia Major: either no
effective production or severely limited production of beta globin.
β Thalassemia Minor: heterozygotes who have inherited a single gene leading to reduced beta globin production.
β Thalassemia Intermedia: disease of intermediate severity, such as those who are compound heterozygotes of two thalassemic variants.
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β Thalassemia Intermediaβ Thalassemia Intermedia
Malaise, pallor, easy fatigability, splenomegaly
CBC reveal anemia with marked hypochromasia and microcytosis
Accepted Hgb: 6-7 g/dL without blood transfusions.
Treatment: close monitoring and observation.
Indications for blood transfusions: intercurrent infections, hypersplenism, or other illnesses.
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β Thalassemia Minor and Newly Diagnosed β Thalassemia Minor and Newly Diagnosed Polycythemia Rubra Vera in a 71- year old Polycythemia Rubra Vera in a 71- year old
WomanWomanJason Preston Thomas, M.D.Jason Preston Thomas, M.D.Hospital Physician April 2001Hospital Physician April 2001
β Thalassemia Minor and polycythemia rubra vera (PRV) are hematologic disorders that give opposite results and the 2 disease entities occurring simultaneously has only been reported ONCE.
Due to the low-grade hemolysis resulting from precipitation of impaired alpha globin chains in association with β Thalassemia Minor, the often substantial elevations in Hgb and Hct seen in PRV were probably blunted.
The low grade anemia of β Thalassemia Minor is not evident because of the overproduction of erythrocytes.
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Final DiagnosisFinal DiagnosisMyeloproliferative Disease probably
Polycythemia Vera Beta Thalassemia IntermediaHypertensive Cardiovascular
DiseaseDyslipidemiaHyperuricemiaChronic Kidney Disease probably
secondary to Hypertensive Nephrosclerosis
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Complete Blood CountComplete Blood Count10/2/10
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ConclusionConclusionBeta Thalassemia and PRV are 2 indirectly
opposing processes and its occurrence in a patient is rare.
For the long term, chemotherapy could be considered if the patient develops a blood clot or requires phlebotomies too frequently.
Median survival of PRV in the absence of therapy extended to at least 10-20 years.
Thrombotic complications are the main cause of morbidity and mortality, hence close monitoring and observation with repeat CBC should be done every 2 months.
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On Follow upOn Follow up
Patient is doing well, asymptomatic.
Has been having regular follow up every 2 months with repeat CBC, and undergoes phlebotomy depending on CBC results.
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THANK YOU AND THANK YOU AND GOOD DAY!!!GOOD DAY!!!