Special Consideration Hematology Disorders Flashcards
Megakaryocyte proliferation that leads to high platelet count with a high tendency for thrombosis or hemorrhage. Associated with a JAK2 mutation.
Essential Thrombocythemia
Sometimes the first sign of Essential Thrombocythemia is thrombosis, where may this occur at in the body?
Hepatic Veins
What is the mean age at diagnosis of Essential Thrombocytopenia?
64 - 73
Who has a higher incidence of Essential Thrombocythemia?
Women
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
Erythromelalgia
(burning of hands and feet)
How is Essential Thrombocytopenia usually discovered?
Routine labs in asymptomatic patients
What is the progression of Essential Thrombocytopenia?
Thrombosis
Hemorrhage
Progression to Myelofibrosis
What will a blood smear show in a patient with Essential Thrombocythemia?
Elevated Platelet Count
(large platelets)
What lab test should you perform on a patient you suspect to have Essential Thrombocythemia to rule out other causes?
Complete Metabolic Panel with Lactate Dehydrogenase
What else should you test for in a patient who you suspect might have Essential Thrombocythemia?
Philadelphia Chromosome
(CML)
What are the Major Criterion for diagnosing Essential Thrombocythemia?
Elevated Platelet Count
Bone Marrow Biopsy with Megakaryocytic Proliferation
Exclusion of Other Conditions
Presence of JAK2, CALR, or MPL
What is the Minor Criterion for Essential Thrombocytopenia?
Presence of a Clonal Marker
or
Absence of Evidence for Reactive Thrombocytosis
What Criterion must be met to make the diagnosis of Essential Thrombocythemia?
4 Major Criterion
or
First 3 Major Criterion + Minor Criterion
What is the main goal of treatment for a patient with Essential Thrombocythemia?
Reduce risk of Thrombosis and Hemorrhage
How do you treat Essential Thrombocythemia?
Hydroxyurea to maintain platelet count
Anagrelide (if anemia develops)
Aspirin
Erythrocytosis that causes overproduction of all three cell lines however, Red Blood Cells are predominant.
Polycythemia Vera
What acquired genetic mutation causes Polycythemia Vera?
JAK2
What is the median age at presentation of Polycythemia Vera?
60
What are the signs and symptoms of Polycythemia Vera?
Often Asymptomatic
Early Satiety and GI Discomfort
Pruritus following a warm shower or bath
- due to histamine release from basophilia
Bone Pain
What are the clinical and physical exam findings of a patient with Polycythemia Vera?
Peptic Ulcer Disease - 4x more likely
Venous Engorgement (retinal veins)
Palpable Spleen
What is a hallmark that is seen on a Complete Blood Count of a patient with Polycythemia Vera?
Hematocrit Over:
49% in Males
48% in Females
(at sea level)
How do you confirm the diagnosis of Polycythemia Vera?
JAK 2 Mutation Screening
What other two clinical findings may lead you towards the diagnosis of Polycythemia Vera?
Elevated B12
Hyperuricemia
What are the Major Criterion of Polycythemia Vera?
Increased Red Blood Cell Volume
Bone Marrow Biopsy with Trilineage Growth
JAK 2 Mutation
What are the Minor Criterion of Polycythemia Vera?
Low Serum EPO
Which criterion must be met to make the diagnosis of Polycythemia Vera?
All 3 Major Criteria
or
First 2 Major Criteria + Minor Criteria
What is the treatment for Polycythemia Vera?
Phlebotomy
Hydroxyurea
Aspirin
(avoid Iron supplementation)
What is the median survival prognosis for patients with Polycythemia Vera?
15+ Years
What is the number one cause of morbidity and mortality from Polycythemia Vera?
Arterial Thrombosis
Iron overload and deposition disorder that affects the liver, pancreas, heart, adrenal glands, testes, pituitary, and kidneys.
Hemochromatosis
What is the most common form of Hemochromatosis?
Autosomal Recessive Disorder
What cells are defected and cause increased iron absorption in Hemochromatosis?
Duodenal Crypt Cells
Who is Hemochromatosis most common in?
Men
What is the classic triad of Hemochromatosis?
Cirrhosis
Bronze Skin
Type I Diabetes
What comorbidities are associated with Hemochromatosis?
Hepatocellular Carcinoma
Intrahepatic Cholangiocarcinoma
Infection via Siderophilic Organisms
Evaluation of a patient with Hemochromatosis might reveal with 3 things?
Elevated Plasma Iron
Low Unsaturated Iron Binding Capacity
Mildly Elevated AST and Alkaline Phosphatase
Patients with what 4 diseases should be evaluated for Hemochromatosis?
Chronic Liver Disease
Erectile Dysfunction
Chondrocalcinosis (mineral deposits in cartilage)
Type I Diabetes (especially late onset)
How do you treat Hemochromatosis?
Depletion of Iron stores via Phlebotomy
(takes 2 - 3 years of weekly phlebotomy)
What can be used to decrease iron absorption and the need for maintenance phlebotomy?
Proton Pump Inhibitors
(PPI)
What can be used as a chelating agent for patients with Hemochromatosis?
Deferoxamine
