Anemias Part 2 Flashcards
What are the types of MacroLytic Anemias
FATRBC
Fetus (pregnancy)
Alcohol Abuse
Thyroid disease (hypothyroid)
Reticulocytosis
B12 and folate deficiency
Cirrhosis and Chronic liver disease
what are the main causes of vitamin B12 deficiency
pernicious anemia #1 (autoimmune process, lack of intrinsic factor needed for B12 absorption)
Dietary insufficiency (vegans and some vegetarians)
Malabsorption
what could be the Malabsorption causes of B12 deficiency
gastric surgery
gastric bypass
pancreatic insufficiency
metformin
crohns disease
resection
PPI use
anything else that interferes with intestinal absorption or intrinsic factor
where is B12 found
primarily found in animal products
fish, eggs, diary, red meat, poultry, shellfish, fortified foods
vegans/vegetarians more likely deficient
what is B12 deficiency
pernicious anemia (autoimmune)
what is the presentation of B12 deficiency
normal anemia symptoms plus:
smooth tongue, glossitis, cheilosis
neuro symptoms (stocking-glove paresthesia, loss of position, fine touch and/or vibratory senses, balance troubles, impaired coordination (ataxia))
psych symptoms (irritability, memory impairment, depression, psychosis)
how are b12 deficiencies diagnosed
low Hgb, elevated MCV, elevated RDW (megaloblastic)
peripheral smear: anisocystosis, poikilocystosis, hypersegmented neutrophils, macro-ovalocytes
low serum b12
elevated homocysteine or methylmelonic acid (MMA)
+/- elevated serum folate
+/- anti-IF antibodies
what is the treatment of b12 deficiency
treat underlying cause
if not feasible or not responsible; pernicious anemia - IM Vitamin B12 injections
B12 and folate supplementation often initiated simultaneously
**Neurologic symptoms may be reversible if treated within 6 months
what is the cause of folate deficiency
common - poorly defined - reduced rates since introduction of fortified foods
primarily due to nutritional deficiency (green leafy veggies and citrus fruits)
poor absorption, pregnancy, hemolytic anemia, medications
where does the absorption of folate occur
throughout the gut
essential for DNA synthesis
what is the presentation of folate deficiency
usual anemia symptoms plus:
glossitis (sore tongue) and vague GI complains
NO NEUROLOGIC SYMPTOMS
how is folate deficiency diagnosed
low Hgb, elevated MCV (macrocytic)
Macro-ovalocytes and hyerpsegmented neutrophils on peripheral smear
often Howell-Jolly bodies present
normal serum B12 level
low serum folate
RBC folate level < 150mg/mL
what is the treatment of folate deficiency
folic acid supplementation - continue x4 months for correctable causes
avoid ETOH and folic acid antagonists
why do we have pregnancy and prenatal folic acid supplementation
to promote neural tube development
what is myelodysplastic syndromes
primarily idiopathic, acquired
group of neoplasms involving hematopoietic stem cells
incidence hard to define
primarily patients > 60yo
M>F
multiple different phenotypes
high risk for transformation to acute myelogenous leukemia
how are myelodysplastic syndromes classified
type and number of cell lines involved
amount of blasts present
presence of chromosomal abnormalities
what is the presentation of myelodysplastic syndromes
most pts are asymptomatic - found incidentally on routine CBC
if symptoms:
fatigue, infections bleeding
symptoms related to reduction in cell lines
what are pathognomonic for myelodysplastic syndromes
cytopenias
- anemia (85%)
- neutropenia (50%)
- thrombocytopenia (25-50%)
- reduced reticulocyte count
- +/- abnormal iron studies
- +/- elevated LDH
- +/- gammaglobulinemia
what is dysplasia evident by in myelodysplastic syndromes
nucleated RBCs
Basophilic trippling
Schistocytes (helmet cells)
macro-ovalocytes
anisocytoiss
hypercelluar marrow in most - differentiates from aplastic anemia
how do you differentiate myelodysplastic syndrome and aplastic anemias
hypercellular marrow
what is the treatment of myelodysplastic syndromes
symptomatic treatments:
- RBC transfusion for symptomatic anemia
- platelet transfusion of plt count < 10k
- +/- prophylactic abx for neutropenia
- EPO if transfusion dependent with low EPO levels
- iron chelation if iron overload
chemotherapeutic or immunosuppressive agents
- intensity dependent on disease severity
- response rates vary
ALlogenic stem cell transplant
what is the only curative option for myelodysplastic syndromes
allogenic stem cell transplant from a healthy donor - should be done before transformation to AML
what is polycythemia vera
myeloproliferative disorder: myeloid stem cell production disorder
neoplastic process
slowly progressive disorder
higher rates in Ashkenazi jewish patients
what is the causes of polycythemia vera
JAK2 mutation - diagnostic
usually spontaneous mutation
increased EPO activity (chronic hypoxia, smoking, chronic high altitudes, renal tumors)
abnormally increased RBC count - increased blood volume and viscosity
what is the average age of onset of polycythemia vera
60yo
rare under age of 40
what is the prognosis of polycythemia vera
median survival time 15-20 years
thrombic complications most common cause of morbidity/mortality
what is the presentation of polycythemia vera
*Generalized pruritis after bathing/showering
HA, Dizziness, “fullness” of head/face, Plethora (ruddy complexion), tinnitus, blurred vision, weakness, fatigue, burning sensation, pain, redness of extremities, PUD, epistaxis, systolic HTN, splenomegally, engorged retinal veins
how is polycythemia vera diagnosed
elevated Hct
elevated RBC count
normal or elevated platelet count
normal peripheral smear
usually low EPO levels
what is the treatment of polycythemia vera
serial phlebotomy (reduced blood volume, RBC count) - lower risk
high risk pts: myelosuppression with hydroxyurea
alternative: bisulfran
third line: Ruxolitinib (JAK2 inhibitor) or interferon (INF)
ASA for prevention of thromboses unless contraindicated
adjunctive phlebotomy
who are high risk PV patients
age >60
history of thrombosis
what should be avoided in the treatment of PV
iron supplementation/excess - phlebotomy intentionally reduces iron deficiency anemia
what is hemochromatosis
iron overload
hereditary vs. acquired
most common in caucasian pts and those of european descent
M>F
clinical symptoms usually present after age 50
what is the pathophysiology of hemochromatosis
most common cause is inherited gene mutation responsible for reducing hepcidin levels
what is the presentation of hemochromatosis
effects of iron deposition:
skin pigmentation, hypothyroidism, cardiomyopathy, diabetes, hypogonadism, arthropathy, hepatic dysfunction
fatigue
vertigo
bronze skin
hepatomegaly
ED
what are the labs wiht hemochromatosis
elevated plasma iron
T sat >45% and elevated serum ferritin
elevated LFTs
genetic testing for HFE mutation if iron overload or + FH
iron deposition/overload may be detectable on MRI/CT
Liver biopsy to assess for cirrhosis
what is the treatment of hemochromatosis
regular therapeutic phlebotomy
