special consideration hematology disorders

Question 1

• megakaryocytic proliferation that leads to high platelet count
• associated with JAK2 mutation
• found due to high platelet count
• first sign thrombosis (in hepatic veins)

Answer 1

essential thrombocythemia

Question 2

• thrombosis
• erythromelalgia
• vasomotor symptoms (night sweats/hot flashes)
• mucosal bleeding, bruising, hemorrhage
• fatigue
• splenomegaly

Answer 2

clinical signs of essential thrombocythemia

Question 3

what will labs for essential thrombocythemia show?

Answer 3

elevated platelet count

Question 4

essential thrombocythemia treatment

Answer 4

reduce risk of thrombosis and hemorrhage
- hydroxyurea to maintain platelet count
- ASA for erythromelalgia for reduction of thrombosis risk

Question 5

• erythrocytosis (RBC predominate)
• neoplastic myeloproliferative disorder
• acquired genetic mutation: JAK 2
• erythrocytosis happens independent of EPO
• associated with PUD

Answer 5

polycythemia vera

Question 6

what will you find on the physical exam for polycythemia vera

Answer 6

• venous engorgement (can see in retinal veins)
• palpable spleen
• thrombosis*
• bleeding
• PUD

Question 6

• often asymptomatic when high HCT is noted
• most symptoms caused by expanded blood volume and viscosity: HA, dizziness, tinnitus
• early satiety and GI discomfort
• prurutis following warm shower or bath
• bone pain

Answer 6

symptoms of polycythemia vera

Question 7

what labs to do for polycythemia vera diagnosis

Answer 7

CBC
confirm diagnosis with JAK2 mutation screening

Question 8

what is the hallmark of polycythemia vera that you see on CBC

Answer 8

HCT over 49% (males) and 48% (females) at sea level

Question 9

polycythemia vera treatment

Answer 9

-phlebotomy weekly until hematocrit is less than 45%

-ASA for thrombosis risk
-allopurinol
-antihistamines

Question 10

• iron overload and deposition disorder
• most common: autosomal recessive disorder
• defect in duodenal crypt cells results in increased iron absorption

Answer 10

hemochromatosis

Question 11

• high iron levels with no symptoms
• early: fatigue, arthralgia
• later: joint disease, hepatomegaly, skin pigmentation
• erectile dysfunction
• chronic liver disease
• chondracalcinosis
• DM1

Answer 11

symptoms of hemochromatosis

Question 12

classic triad of hemochromatosis

Answer 12

cirrhosis, bronze skin, DM1

Question 13

what does MRI and CT show for hemochromatosis

Answer 13

iron overload in liver

Question 14

hemochromatosis treatment

Answer 14

• avoid red meat and supplemental iron
• depletion of iron stores by phlebotomy– usually takes 2-3 years of weekly phlebotomy