Bone Marrow Disorder - H/O Flashcards
Aplastic Anemia
Epidemiology
-teens-20s and the elderly
Pathophysiology
- acellular marrow -> pancytopenia
- anemia, thrombocytopenia, leukopenia (namely neutropenia)
Etiology
-idiopathic (~50%), meds (chemotherapeutics, sulfa, anticonvulsants), radiation exposure (Marie Curie died from AA), toxins (namely benzene), viral infections (namely parvovirus), autoimmune (namely SLE)
S/S
-those of pancytopenia
Aplastic Anemia W/U and tx
Pancytopenia DDx
- Aplastic Anemia
- Myelodysplastic Syndromes (upcoming)
- Megaloblastic Anemia (see elsewhere)
- Myelofibrosis
W/U
-CBC, BMP, LFTs, TFTs, B12 and folate, HIV
Dx
-Bone marrow Biopsy = acellular marrow replaced by fat
Tx
- remove offending agent if possible
- BM transplant (stem cell transplant)
- supportive: transfusions, abx, erythropoietin
- immunosuppressants: anti-lymphocyte globulin or anti-thymocyte globulin, combined with corticosteroids and cyclosporine, with a response rate of about 70% (if pt responds, then they have a an auto-immune component, so look for it).
Px
-higher risk of leukemia in the future
Myelodysplastic Syndromes (MDS)
-aka Myelodysplasia
Types
- Refractory Cytopenia
- Refractory Cytopenia of Childhood
- Refractory Anemia with Ringed Sideroblasts
- Refractory Anemia with Excess Blasts
- Refractory Anemia with Excess Blasts in Transformation
- Myelodysplasia Unclassified
Epidemiology
-60-75yo, few pancytopenia
Myelodysplastic Syndromes (MDS) - s/s, dx, tx
S/S
-anemia symptoms first, but later TCP (mainly bleeding) and neutropenia (mainly increased infections) symptoms, which are more serious
W/U
-CBC, BMP, LFTs, TFTs, B12 and folate, HIV
Dx
-BMBx = multilineage dysplasia, Pelger-Huet cells
Tx
- BM/stem cell transplant
- supportive: transfusions, abx, erythropoietin
- immunosuppressants: eculizumab (stabilizes hgb levels)
Px
-poor, most transform into leukemia
Myeloproliferative Syndromes (MPS)
Polycythemia Vera
- Absolute, 1⁰ and 2⁰
- Relative
- Essential Thrombocytosis
- Myelofibrosis
- CML (see leukemia lecture)
Polycythemia Vera
Epidemio
-M>F, ~60yo
Pathophys
- neoplastic proliferation of erythrocytes, and possibly megakaryocytes and granulocytes
- RBC has mutated tyrosine kinase = ↑ sensitivity to erythropoietin (EPO)
- increased RBC mass (↑ hgb and hct), +/- leukocytosis and thrombocytosis
Etio/Classification
-Absolute
1⁰: NOT due to ↑EPO but is due to a neoplastic transformation
2⁰: a compensatory response with subsequent ↑ EPO
-hypoxia (OSA, COPD), carboxyhemoglobinemia, renal/hepatic tumors, Cushing’s Syndrome, high dose steroids
Relative
-dehydration or stress-induced
Polycythemia Vera - s/s
- hyperviscosity (HA, dizzy, tinnitus, blurred vision)
- thromboses (if thrombocytosis is present, also hyperviscosity)
- bleeding (if thrombocytosis is present d/t abnl plt function)
- peptic ulcers
- general pruritis, especially after warm water (tons of basophils = ↑ histamine)
- flushed, red face (plethora)
- splenomegaly > hepatomegaly
erythromelalgia
- rare, but classic
- sudden severe burning pain in palms and soles with reddish or bluish discoloration
- due to microvascular occlusions from thrombosis
- resolves rapidly with aspirin
Polycythemia Vera - w/u, tx
W/U and Dx
- r/o secondary causes with sats, carboxyhgb levels, EPO levels (will be high if 2⁰, low to nl if 1⁰)
- CBC (high hgb and hct, +/- high WBC and basophils, +/- high plts)
- Nl RBC morphology on smear
- BMBx panhypercellular (Philadelphia Chromosome NEGATIVE reciprocal translocation between chromosome 9 and 22)
Tx
- Phlebotomy: the mainstay of therapy. The object is to remove excess cellular elements, mainly red blood cells, to improve the circulation of blood by lowering blood viscosity
- Hydroxyurea: myelosuppressive agent; ↓ thrombosis
- Anagrelide: prevents platelet aggregation and inhibits megakaryocyte maturation, thereby decreasing platelet counts
- ASA: prevent platelet aggregation and decreases risk of thrombosis
Px
- mean survival ~12 yrs
- can transform to acute leukemia
Essential Thrombocytosis
- rare
- extreme thrombocytosis (plts>600,000), +/- erythrocytosis and leukocytosis
- idiopathic, reactive (inflammatory conditions and infection can cause; RA, IBD, vasculitis)
- thromboses (more arterial than venous), erythromelalgia, bleeding (because plts are abnormal), pruritis (↑ basophils), splenomegaly
- smear shows hypogranular plts with abnl and varied morphology
- BMBx hypercellular megakaryocytes, Philly Ch. NEG
- anagrelide, hydroxyurea, ASA (for the erythromelagia)
Myelofibrosis
marrow becomes fibrosed
- “spent” phase of MPS (chronic production leads to fibrosis; aka post-PV or post-ET myelofibrosis)
- leukemias
- MDS
- breast or prostate metastases
- pancytopenic features with massive splenomegaly
- BMBx: “dry”, severe fibrosis replaced by collagen
- smear: tear drop cells
- supportive care
- median survival ~5yrs
