Special Consideration Hematology Disorders

Question 1

Megakaryocyte proliferation that leads to high platelet count with a high tendency for thrombosis or hemorrhage. Associated with a JAK2 mutation.

Answer 1

Essential Thrombocythemia

Question 2

Sometimes the first sign of Essential Thrombocythemia is thrombosis, where may this occur at in the body?

Answer 2

Hepatic Veins

Question 3

What is the mean age at diagnosis of Essential Thrombocytopenia?

Answer 3

64 - 73

Question 4

Who has a higher incidence of Essential Thrombocythemia?

Answer 4

Women

Question 5

A sign seen with Essential Thrombocythemia possibly caused by intravascular activation and aggregation of platelets with subsequent smudging or occlusion of the distal limb arterial microvasculature

Answer 5

Erythromelalgia
(burning of hands and feet)

Question 6

How is Essential Thrombocytopenia usually discovered?

Answer 6

Routine labs in asymptomatic patients

Question 7

What is the progression of Essential Thrombocytopenia?

Answer 7

Thrombosis
Hemorrhage
Progression to Myelofibrosis

Question 8

What will a blood smear show in a patient with Essential Thrombocythemia?

Answer 8

Elevated Platelet Count
(large platelets)

Question 9

What lab test should you perform on a patient you suspect to have Essential Thrombocythemia to rule out other causes?

Answer 9

Complete Metabolic Panel with Lactate Dehydrogenase

Question 10

What else should you test for in a patient who you suspect might have Essential Thrombocythemia?

Answer 10

Philadelphia Chromosome
(CML)

Question 11

What are the Major Criterion for diagnosing Essential Thrombocythemia?

Answer 11

Elevated Platelet Count
Bone Marrow Biopsy with Megakaryocytic Proliferation
Exclusion of Other Conditions
Presence of JAK2, CALR, or MPL

Question 12

What is the Minor Criterion for Essential Thrombocytopenia?

Answer 12

Presence of a Clonal Marker
or
Absence of Evidence for Reactive Thrombocytosis

Question 13

What Criterion must be met to make the diagnosis of Essential Thrombocythemia?

Answer 13

4 Major Criterion
or
First 3 Major Criterion + Minor Criterion

Question 14

What is the main goal of treatment for a patient with Essential Thrombocythemia?

Answer 14

Reduce risk of Thrombosis and Hemorrhage

Question 15

How do you treat Essential Thrombocythemia?

Answer 15

Hydroxyurea to maintain platelet count
Anagrelide (if anemia develops)
Aspirin

Question 16

Erythrocytosis that causes overproduction of all three cell lines however, Red Blood Cells are predominant.

Answer 16

Polycythemia Vera

Question 17

What acquired genetic mutation causes Polycythemia Vera?

Answer 17

JAK2

Question 18

What is the median age at presentation of Polycythemia Vera?

Answer 18

60

Question 19

What are the signs and symptoms of Polycythemia Vera?

Answer 19

Often Asymptomatic
Early Satiety and GI Discomfort
Pruritus following a warm shower or bath
- due to histamine release from basophilia
Bone Pain

Question 20

What are the clinical and physical exam findings of a patient with Polycythemia Vera?

Answer 20

Peptic Ulcer Disease - 4x more likely
Venous Engorgement (retinal veins)
Palpable Spleen

Question 21

What is a hallmark that is seen on a Complete Blood Count of a patient with Polycythemia Vera?

Answer 21

Hematocrit Over:
49% in Males
48% in Females
(at sea level)

Question 22

How do you confirm the diagnosis of Polycythemia Vera?

Answer 22

JAK 2 Mutation Screening

Question 23

What other two clinical findings may lead you towards the diagnosis of Polycythemia Vera?

Answer 23

Elevated B12
Hyperuricemia

Question 24

What are the Major Criterion of Polycythemia Vera?

Answer 24

Increased Red Blood Cell Volume
Bone Marrow Biopsy with Trilineage Growth
JAK 2 Mutation

Question 25

What are the Minor Criterion of Polycythemia Vera?

Answer 25

Low Serum EPO

Question 26

Which criterion must be met to make the diagnosis of Polycythemia Vera?

Answer 26

All 3 Major Criteria or First 2 Major Criteria + Minor Criteria

Question 27

What is the treatment for Polycythemia Vera?

Answer 27

Phlebotomy Hydroxyurea Aspirin (avoid Iron supplementation)

Question 28

What is the median survival prognosis for patients with Polycythemia Vera?

Answer 28

15+ Years

Question 29

What is the number one cause of morbidity and mortality from Polycythemia Vera?

Answer 29

Arterial Thrombosis

Question 30

Iron overload and deposition disorder that affects the liver, pancreas, heart, adrenal glands, testes, pituitary, and kidneys.

Answer 30

Hemochromatosis

Question 31

What is the most common form of Hemochromatosis?

Answer 31

Autosomal Recessive Disorder

Question 32

What cells are defected and cause increased iron absorption in Hemochromatosis?

Answer 32

Duodenal Crypt Cells

Question 33

Who is Hemochromatosis most common in?

Answer 33

Men

Question 34

What is the classic triad of Hemochromatosis?

Answer 34

Cirrhosis Bronze Skin Type I Diabetes

Question 35

What comorbidities are associated with Hemochromatosis?

Answer 35

Hepatocellular Carcinoma Intrahepatic Cholangiocarcinoma Infection via Siderophilic Organisms

Question 36

Evaluation of a patient with Hemochromatosis might reveal with 3 things?

Answer 36

Elevated Plasma Iron Low Unsaturated Iron Binding Capacity Mildly Elevated AST and Alkaline Phosphatase

Question 37

Patients with what 4 diseases should be evaluated for Hemochromatosis?

Answer 37

Chronic Liver Disease Erectile Dysfunction Chondrocalcinosis (mineral deposits in cartilage) Type I Diabetes (especially late onset)

Question 38

How do you treat Hemochromatosis?

Answer 38

Depletion of Iron stores via Phlebotomy (takes 2 - 3 years of weekly phlebotomy)

Question 39

What can be used to decrease iron absorption and the need for maintenance phlebotomy?

Answer 39

Proton Pump Inhibitors (PPI)

Question 40

What can be used as a chelating agent for patients with Hemochromatosis?

Answer 40

Deferoxamine