Anemias Part 2

Question 1

What are the types of MacroLytic Anemias

Answer 1

FATRBC
Fetus (pregnancy)
Alcohol Abuse
Thyroid disease (hypothyroid)
Reticulocytosis
B12 and folate deficiency
Cirrhosis and Chronic liver disease

Question 2

what are the main causes of vitamin B12 deficiency

Answer 2

pernicious anemia #1 (autoimmune process, lack of intrinsic factor needed for B12 absorption)
Dietary insufficiency (vegans and some vegetarians)
Malabsorption

Question 3

what could be the Malabsorption causes of B12 deficiency

Answer 3

gastric surgery
gastric bypass
pancreatic insufficiency
metformin
crohns disease
resection
PPI use
anything else that interferes with intestinal absorption or intrinsic factor

Question 4

where is B12 found

Answer 4

primarily found in animal products
fish, eggs, diary, red meat, poultry, shellfish, fortified foods
vegans/vegetarians more likely deficient

Question 5

what is B12 deficiency

Answer 5

pernicious anemia (autoimmune)

Question 6

what is the presentation of B12 deficiency

Answer 6

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)

Question 7

how are b12 deficiencies diagnosed

Answer 7

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

Question 8

what is the treatment of b12 deficiency

Answer 8

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

Question 9

what is the cause of folate deficiency

Answer 9

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

Question 10

where does the absorption of folate occur

Answer 10

throughout the gut
essential for DNA synthesis

Question 11

what is the presentation of folate deficiency

Answer 11

usual anemia symptoms plus:
glossitis (sore tongue) and vague GI complains
NO NEUROLOGIC SYMPTOMS

Question 12

how is folate deficiency diagnosed

Answer 12

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

Question 13

what is the treatment of folate deficiency

Answer 13

folic acid supplementation - continue x4 months for correctable causes
avoid ETOH and folic acid antagonists

Question 14

why do we have pregnancy and prenatal folic acid supplementation

Answer 14

to promote neural tube development

Question 15

what is myelodysplastic syndromes

Answer 15

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

Question 16

how are myelodysplastic syndromes classified

Answer 16

type and number of cell lines involved
amount of blasts present
presence of chromosomal abnormalities

Question 17

what is the presentation of myelodysplastic syndromes

Answer 17

most pts are asymptomatic - found incidentally on routine CBC
if symptoms:
fatigue, infections bleeding
symptoms related to reduction in cell lines

Question 18

what are pathognomonic for myelodysplastic syndromes

Answer 18

cytopenias
- anemia (85%)
- neutropenia (50%)
- thrombocytopenia (25-50%)
- reduced reticulocyte count
- +/- abnormal iron studies
- +/- elevated LDH
- +/- gammaglobulinemia

Question 19

what is dysplasia evident by in myelodysplastic syndromes

Answer 19

nucleated RBCs
Basophilic trippling
Schistocytes (helmet cells)
macro-ovalocytes
anisocytoiss

hypercelluar marrow in most - differentiates from aplastic anemia

Question 20

how do you differentiate myelodysplastic syndrome and aplastic anemias

Answer 20

hypercellular marrow

Question 21

what is the treatment of myelodysplastic syndromes

Answer 21

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

Question 22

what is the only curative option for myelodysplastic syndromes

Answer 22

allogenic stem cell transplant from a healthy donor - should be done before transformation to AML

Question 23

what is polycythemia vera

Answer 23

myeloproliferative disorder: myeloid stem cell production disorder
neoplastic process
slowly progressive disorder
higher rates in Ashkenazi jewish patients

Question 24

what is the causes of polycythemia vera

Answer 24

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

Question 25

what is the average age of onset of polycythemia vera

Answer 25

60yo
rare under age of 40

Question 26

what is the prognosis of polycythemia vera

Answer 26

median survival time 15-20 years
thrombic complications most common cause of morbidity/mortality

Question 27

what is the presentation of polycythemia vera

Answer 27

*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

Question 28

how is polycythemia vera diagnosed

Answer 28

elevated Hct
elevated RBC count
normal or elevated platelet count
normal peripheral smear
usually low EPO levels

Question 29

what is the treatment of polycythemia vera

Answer 29

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

Question 30

who are high risk PV patients

Answer 30

age >60
history of thrombosis

Question 31

what should be avoided in the treatment of PV

Answer 31

iron supplementation/excess - phlebotomy intentionally reduces iron deficiency anemia

Question 32

what is hemochromatosis

Answer 32

iron overload
hereditary vs. acquired
most common in caucasian pts and those of european descent
M>F
clinical symptoms usually present after age 50

Question 33

what is the pathophysiology of hemochromatosis

Answer 33

most common cause is inherited gene mutation responsible for reducing hepcidin levels

Question 34

what is the presentation of hemochromatosis

Answer 34

effects of iron deposition:
skin pigmentation, hypothyroidism, cardiomyopathy, diabetes, hypogonadism, arthropathy, hepatic dysfunction
fatigue
vertigo
bronze skin
hepatomegaly
ED

Question 35

what are the labs wiht hemochromatosis

Answer 35

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

Question 36

what is the treatment of hemochromatosis

Answer 36

regular therapeutic phlebotomy