Myeloproliferative Disorders

Question 1

what are myeloproliferative syndromes characterized as

Answer 1

too many blood cells

Question 2

too many red blood cells is known as

Answer 2

polycythermia vera

Question 3

too many platelets

Answer 3

essential thrombocytosis

Question 4

too many neutrophils

Answer 4

chronic myelogenous or chronic myeloid leukemia

Question 5

what is polycythemia vera

Answer 5

elevated RBC mass associated with mild increase and platelets

Question 6

what gene is associated with PCV

Answer 6

Janus kinases 2

JAK2V617F

Question 7

what are the symptoms of PCV

Answer 7

fatigue, HA, Puritis, flushing, abdominal discomfort d/t splenomegaly
less common symp: TIA, mesenteric or hepatic thrombosis
Epistaxis, easy brusing, digital ischemia

Question 8

what are the PCV PE findings

Answer 8

ruddy complexion

mild splenomegaly

Question 9

what is the Dx for PCV

Answer 9

when there is significant mature erythrocytosis (HcT >60%) with some modest increase in mature platelets and neutrophils
WBC and platelets will be normal HcT > 52% males & >48% females but <60%

Question 10

what is the Dx of PCV?

Answer 10

ABG including carboxy Hgb should be normal
Serum Erythropoietin (low)
splenic US: may show splenomegaly
Fe/TIBC(normal), B12 norm to elevated, folate norm
test peripheral blood for JAK2 mutation

Question 11

Tx for PCV

Answer 11

lower Hct to avoid symptoms 
phlebotomize the patient <42% Hct
Anagrelide
Ruxolitinib only for JAK 2+
NO IRON
Anticoag if thrombis is documented

Question 12

Rx for conditions for hyperurecemia

Answer 12

allopurinol and colchicine

Question 13

rx for puritis

Answer 13

antihistamines
doxepin
cyproheptadine

Question 14

essential thrombocytosis has a platelet count of?

Answer 14

600,000 with no other etiologies
Need to exclude 
Iron deficiency
bleeding
co-existing infection or inflammatory phase or other myleoproliferative d/o

Question 15

what are the signs and symptoms of essential thrombocytosis

Answer 15

tend to be more common in females
HA or dizziness
Occasionally easy brusing and GI bleeding
PE: norm

Question 16

what are the lab findings for essential thrombocytosis

Answer 16

Hgb and Hct normal
WBC slightly elevated with normal differential
Platelets must be increased and some giatn platelets are expected
JAK2 V617F
R/O CML
Norm Fe/TIBC, normal ferritin, norm sed rate

Question 17

when to check if suspucious of something other than ET

Answer 17

BM biopsy to R/O myelofibrosis

check for CML for philadelphia chromosome or BRC/ABL mutation

Question 18

what is the Tx of ET

Answer 18

based on symptoms

Question 19

what is CML

Answer 19

characterized by elevated white blood count with spectrum on Immature blood cells normally seen in the bone marrow now present in peripheral blood
Thrombocytosis and anemia are fairly common
Basophilia is almost diagnostic

Question 20

what is diagnostic of CML

Answer 20

philadelphia chromosome t(9;22)

BCR-ABL-1

Question 21

what are the signs and symptoms of CML

Answer 21

fatigue, SOB, unexplained weight loss or abdominal discomfort d/t splenomeagly
thrombocytosis >10,000,000
wet purpura, GI bleeding

Question 22

what are the lab findings for CML

Answer 22

peripheral blood is sent for a leukocyte alkaline
phosphatase which is paradoxically low in CML
sed rate normal
peripheral blood smear should have predominance of bands, metamyeloctyes and myelocyted with <5% blasts
BM hypercellular

Question 23

what is the tx for CML

Answer 23

Imatinib

Question 24

what is myelofibrosis with myeloid metaplasia

Answer 24

clonal disorder of the bone marrow characterized by increased marrow reticulum, increased marrow fibrosis, extra-medullary hematopoiesis and splenomegaly

Question 25

how does MMM present

Answer 25

fatigue, upper abdominal pain and sometime weight loss thrombocytosis splenomegaly and extramedually hematopoiesis

Question 26

what are the labs like for MMM

Answer 26

peripheral smear is a leuko-eryhtroblastic Myelophthisis Immature RBC, and WBC with teardrop shaped RBC 50% will have JAK2 V617F

Question 27

what is the treatment for MMM?

Answer 27

``` primarily supportive anemia is tx'ed with transfusion Splenectomy or Irradiating the spleen Hydrea or RUxolitinib Allogeneic bone marrow transplantation ```

Question 28

aplastic anemia/marrow failure and myelodysplastic syndromes

Answer 28

dz of marrow failure characterized by cytopenia's usually more than one cell line NO splenomegaly or Extramedually hematopoiesis

Question 29

what causes marrow failure syndromes

Answer 29

``` toxic bone marrow injury d/t drugs or radiation congenital viral infections thymoma graf vs host dz ```

Question 30

pancytopenias are associated with?

Answer 30

``` cellular marrow secondary to other non marrow etiologies B12 or folate ETOH poisoning Viral infx bacterial sepsis ```

Question 31

what is acquired aplastic anemia

Answer 31

pancytopenia associated with bone marrow hypoplasia

Question 32

what are causes for aplastic anemia

Answer 32

``` phentoins, chloramphenicol viral infx Hep A,B,C EBV and parvo thymoma Paroxysmal noturnal hemoglobinuria GVH ```

Question 33

what will the exam for AAA look like

Answer 33

petechiae, wet purpura, pallor, fever

Question 34

what will the labs for AAA look like

Answer 34

``` normocytic or macrocytic granulocytopenia w/o lymphopenia thrombocytopenia retic count low or 0 hypocellular bone marrow with too much fat and little dysplasia ```

Question 35

what is the tx of AAA

Answer 35

pt should be treated supportively till definitive dx can be made Allogeneic bone marrow transplantation is potentially curative

Question 36

what is myelodysplastic syndromes

Answer 36

disease characterized by pancytopenias abnormally formed RBCs and sometimes immature WBC in peripheral smear

Question 37

who is affected by myelodysplastic syndromes

Answer 37

older adults > 70 y.o

Question 38

what is the history of MDS look like

Answer 38

insidious onset of fatigue, SOB and possibly angina | splenomegaly

Question 39

what is the labs look like for Myelodysplastic syndromes

Answer 39

macrocytosis and abnormally formed RBC and WBC Bone marrow in hypercellular with dysplastic changes increase in blasts is bad

Question 40

what is the tx for MDS

Answer 40

supportive allogenic bone marrow transplant azacitidine