Polycythemia

Question 1

Secondary polycythemia can result from:

Answer 1

oxygen desaturation <92%
 increase EPO levels, 
testosterone therapy, 
ovarian leiomyomas,
 EPO secreting tumors (like renal cell)

Question 2

when to stop testosterone therapy on a patient who has developed polycythemia?

Answer 2

when Hct >54%

25% of pts on testosterone therapy develop polycythemia. Also see polycythemia happen as a dose dependent phenomenon.

Question 3

definition of polycythemia

Answer 3

Hgb > 16.5 in men and >16 in women

Question 4

primary polycythemia or EPO independent happens because of

Answer 4

chronic myeloproliferative disorder sometimes called polycythemia vera.

activating mutation is a JAK2-V617F gene seen in 97% of all polycythemia vera

Question 5

what is the clinical presentation of polycythemia vera?

Answer 5

see aquagenic pruritis (post showering itching), erythromelalgia (redness and paresthesias of extremities), thrombosis, hemorrhage

can have headaches and fatigue

Question 6

what is seen on lab for a pts who has polycythemia vera or primary polycythemia?

Answer 6

low EPO, positive JAK2 mutation (97% positive)

Question 7

Side effects of secondary polycythemia

Answer 7

increased risk for VTE or cardiovascular events.

Question 8

Secondary polycythemia is a result in

Answer 8

EPO dependent; there’s something driving EPO elevation and needs work up. Either sleep study, abdominal imaging, or review of medications, or if pt lives in a high altitude area.

Question 9

polycythemia vera (clinical features) will have

Answer 9

high blood viscosity
HTN
erythromelalgia (burning cyanosis in hands and feet and transient visual disturbances.
high RBC turnover and gouty arthritis and aquagenic pruritis and bleeding.

Question 10

erythromelalgia

Answer 10

burning cyanosis in hands and feet and redness

seen with polycythemia vera

treated with aspirin.

Question 11

what are the physical exam findings for polycythemia vera

Answer 11

see facial plethora (ruddy cyanosis) and splenomegaly

may have arterial or venous thrombosis or TIAs.

Question 12

laboratory findings of polycythemia vera

Answer 12

Hgb>16.5 in men and Hgb>16 in women.

elevated Hgb or HCT>48% in female and >49% in men.
leukocytosis and thrombocytosis
see low EPO level
JAK2 mutation positive

Question 13

complications of polycythemia vera

Answer 13

thrombosis- stroke, VTE

can develop into post PV primary myelofibrosis (5-10 yrs after diagnosis)

or can develop into acute leukemia (AML)

Question 14

treatment of polycythemia vera

Answer 14

increased risk for thrombus (age>60, active thrombus or prior thrombus):
-treat with hydroxyurea

if no active thrombus or at low risk for thrombus (age <60 and no prior thrombosis):
-treat with serial phlebotomy to get Hct <45, ASA, and symptom management.

Question 15

what is polycythemia vera

Answer 15

clonal myeloproliferative disorder associated with proliferation of RBC independent of EPO and other cytokines.

EPO levels are low and 97% cases will have JAK2 positivity

Question 16

Treatment of people with high risk polycythemia vera

Answer 16

> 60 yrs and have active thrombus or prior thrombus
phlebotomy to achieve hematocrit <45

need hydroxyurea

Question 17

primary polycythemia labs

Answer 17

low EPO

Includes polycythemia vera (Jak2 mutation) and EPO receptor mutations

Question 18

secondary polycythemia labs

Answer 18

normal or high EPO

Results from hypoxemia - cardiopulmonary disease, OSA, high altitude

EPO producing tumor (renal, hepatic)

Congenital (high affinity to hgb)

following renal transplant

Androgen supplementation

Question 19

polycythemia work up given high EPO levels

Answer 19

need to get a post exercise and nocturnal oxygen saturation testing.

if there’s a history of cigarette use, dypsnea and obesity need to rule out pulmonary disease leading to hypoxia as a reason for post exercise and nocturnal oxygen saturation testing.

Question 20

when to get CT scan in polycythemia evaluation

Answer 20

when we look for an EPO producing tumor. This is for people who have normal oxygen saturation testing and have signs of malignancy.

Question 21

Is a bone marrow biopsy necessary for diagnosing polycythemia vera?

Answer 21

no. not necessary

Can get JAK2 testing based on blood.

only get it if JAK2 mutation is negative and suspecting a myeloproliferative disorder.

Question 22

what is relative polycythemia ?

Answer 22

this is increased blood cell mass due to dehydration

Question 23

initial labs to consider for polycythemia vera?

Answer 23

CBC, serum EPO evaluation
JAK2 mutation

EPO will be low in polycythemia vera.

Question 24

what is a dreaded side effect of polycythemia vera?

Answer 24

it can transform into AML or post polycythemia vera myelofibrosis.

post AML transformation - poor prognosis.

Question 25

when do we use ruxolitinib?

Answer 25

Jak1/2 inhibitor - used for treatment of polycythemia vera who are intolerant of hydroxyurea and for refractory polycythemia vera.

Question 26

High EPO =

Answer 26

renal cell carcionma
sometimes hepatoceullar carcinoma
cerebellar hemangioblastoma
pheochromocytoma
uterine myomata

polycythemia vera WILL NOT HAVE HIGH EPO

Question 27

clues to tumor related erythrocytosis are:

Answer 27

microscopic hematuria (kidney cancer)

abnormal liver tests, hep B or hematochromatosis or cirrhosis

HA or abnormal neurological findings (hemangioblastoma)

hypertension
abnormal electrolyte levels
hyperglycemia (pheochromocytoma)

menorrhagia (uterine myomata)