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Hematology - Myeloproliferative Diseases

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What is the pathophysiological cause of myeloproliferative diseases?
Clonal proliferation of a myeloid stem cell --> excessive production of mature, differentiated myeloid cell lines
Name 4 subtypes of myeloproliferative diseases
Polycythemia vera
Thrombocythemia
Myelofibrosis
Chronic Myeloid Leukemia
Epidemiology of Polycythemia Vera (age, gender, incidence)
50-60 yr, male, rare
Si/Sx of PV
HA, vertigo, diplopia, retinal hemorrhages
strokes, angina, claudication
splenomegaly, gout
**pruritus after showering**
Tx and Px of PV
Tx: phlebotomy
Px: good (**5% progress to leukemia, 20% to myelofibrosis**)
What is DDx for elevated hematocrit? (2)
primary polycythemia
secondary erythrocytosis
What is the pathophysiology of Essential Thrombocythemia (secondary thrombocytosis)?

How do you diagnose ET?
Clonal proliferation of megakaryocytes --> elevated platelet counts

**Diagnosis of exclusion!**
Name 3 general causes of ET?
Iron deficiency
Inflammatory Dz (infection, IBD, etc)
malignancy (CML)
Si/Sx of ET
plt > 5 x 10^5 cells/ul, **ecchymoses/bleeding but not typically thrombosis**
Tx and Px of ET
Only treat if symptomatic
- apheresis (plt exchange)
- hydroxyurea & INF-alpha
- Anagrelide is first line (unknown mechanism which decreases plt synthesis from megas)

Px: good
What is the population of idiopathic myelofibrosis?
>50 yo
Pathophysiology of idiopathic myelofibrosis
Clonal proliferation of unknown cell type leading to fibrosis of bone marros --> extramedullary hematopoiesis
Si/Sx of idiopathic myelofibrosis
What do you see on blood smear?
Si/Sx: massive hepatomegaly and splenomegaly, gout
Blood: teardrop cells, nucleated rbc, immature wbc, anemia with high wbc and plt
Tx and Px of idiopathic myelofibrosis
Tx: symptomatic (splenectomy, ABx, allopurinol)

Px: very poor (5yr until total marrow failure)

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