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Heme/Genetics > Anemia Part 1&2 > Flashcards

Anemia Part 1&2 Flashcards

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1
Q

Anemia

A

Reduction in one or more of the major RBC measurements - lower ability for the blood to carry oxygen to body tissues

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2
Q

RBC Measurements (3)

A
  • Hemoglobin concentration
  • Hematocrit
  • RBC count
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3
Q

Hemoglobin Count Men vs. Women

A
  • Hgb <13 g/dL in men

- Hgb <12 g/dL in women

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4
Q

Symptoms of anemia

A

SOB, fatigue, light headedness, tachycardia, pounding heart beat, hypotension, pallor, exercise intolerance, irritability, headache, vertigo, angina pectoris.

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5
Q

Hgb, Hct, and RBC are all measurements based on…

A

Concentrations

- dependent on the red blood cell mass (RCM) as well as plasma volume

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6
Q

Will Hematocrit (Hct) over- or under- estimate blood loss?

A

Underestimate

- Patients with acute bleeding will often have normal values for Hgb and Hct.

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7
Q

A single RBC can carry _________ Hgb molecules.

A

250 million

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8
Q

Each Hgb can carry ____ oxygen molecules.

A

4

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9
Q

One RBC can carry as many as _________ molecules of oxygen.

A

One billion.

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10
Q

How long do RBCs live?

A

110-120 days

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11
Q

MCV

A

Mean corpuscular volume, the size of RBCs (microcytic or macrocytic)

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12
Q

MCHC

A

Mean corpuscular Hgb concentration

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13
Q

Elevated MCHC

A

Polychromasia

elevated in hereditary spherocytosis

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14
Q

MCH

A

Mean corpuscular Hgb, average mass of Hgb in RBCs

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15
Q

Decreased MCH

A

Hypo-chromic cells

Iron deficiency anemia

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16
Q

RDW

A

RBC distribution width
Normal = cells same size
Elevated = cells different sizes, called “poikilocytosis”

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17
Q

Hereditary spherocytosis appearance

A

They appear smaller and have no central pallor

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18
Q

Thalassemia appearance

A

Target cells (microcytic hypochromic anemia)

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19
Q

Define anisocytosis

A

Different sizes

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20
Q

Define poikilocytosis

A

Different shapes

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21
Q

Define schistocytes

A

RBC fragments (seen in microangiopathic disorders)

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22
Q

Define eliptocytes

A

Abnormally elongated RBCs

seen with both iron deficiency and megaloblastic anemia

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23
Q

Define helmet cells

A

Resembles a helmet (seen in microangiopathic anemia and TTP)

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24
Q

Where do you see target cells?

A

Seen in thalassemia, sickle cell disease, liver disease, s/p splenectomy.

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25
Q

Define sickle cells

A

Sharp edged, elongated, not pliable like normal, more rigid and sticky, shaped like sickles or crescent moons.

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26
Q

Define acanthocytes

A

Acantha means “thorn”

- Cell membrane has pointy edges

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27
Q

Define spherocytes

A

Sphere-shaped rather than bi-concave disk shaped.

seen in hemolytic anemias

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28
Q

RDW is high in…

A

Anisocytosis and iron deficiency anemia.

- note that it is normal in thalassemia

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29
Q

Basophilic stippling is seen in…

A
  • precipitated RNA
  • lead or heavy metal poisoning (microcytic)
  • ETOH abuse (macrocytic)
  • hemolytic anemia
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30
Q

What does reticulocyte count determine?

A

If bone marrow is functioning.

hypoproliferative anemias have low retic count

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31
Q

What is the kinetic approach to classifying anemia?

A
  • production
  • destruction
  • loss
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32
Q

What is the morphologic approach to classifying anemias?

A
  • microcytic
  • normocytic
  • macrocytic
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33
Q

Kinetic approach: production - reticulocyte and erythropoietin count interpretation

A
  1. Increased = bone marrow responding

2. Decreased = bone marrow not responding (nutritional deficiency or bone marrow failure

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34
Q

What tests would you run to look for destruction and would each marker be increased/decreased?

A
  • increased LDH
  • increased indirect bilirubin
  • increased retic count
  • decreased haptoglobin (binds free hgb)
  • direct coombs (DAT) +/-
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35
Q

How would you interpret the destruction tests?

A

Hemolysis

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36
Q

What tests would you run to look for loss?

A
  • history
  • vital signs
  • guaiac stool test
  • colonoscopy
  • EGD
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37
Q

Classification of anemia types (3)

A
  1. hypoproliferation
  2. RBC maturation problem
  3. hemolysis or hemorrhage
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38
Q

Hypoproliferation

A

defects in marrow production

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39
Q

RBC maturation

A

ineffective erythropoiesis

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40
Q

Hemolysis or hemorrhage

A

blood loss or destruction of RBCs

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41
Q

Decreased reticulocyte count

A

Think poor production (nutritional deficiency, bone marrow failure, or endocrine)

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42
Q

Increased reticulocyte count

A

Production is good, bone marrow is working - look for another cause of anemia (i.e. hemolysis)

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43
Q

Erythropoietin production in healthy kidneys

A

Anemia –> decreased oxygen –> increased Epo production –> correction of anemia

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44
Q

Acquired causes of hemolytic anemia

A
  • immune mediated
  • transfusion reaction
  • infection
  • physical/mechanical damage
  • drugs/toxic agents
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45
Q

Hereditary causes of hemolytic anemia

A
  • cell membrane defect
  • enzyme defect
  • hemoflobinopathy
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46
Q

What test would you use if you suspected immune-mediated?

A

Direct Coombs Test (DAT)

- if RBCs have auto-antibodies, they will agglutinate (+)

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47
Q

Positive Coombs Test (4)

A
  • immune mediated hemolysis
  • drugs/toxic agents
  • transfusion reaction
  • infection
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48
Q

Negative Coombs Test (4)

A
  • inherited defects (hemoglobiopathies, sickle cell disease, G6-PD deficiency, pyruvate kinase)
  • deficiency (spherocytosis)
  • TTP
  • DIC
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49
Q

Which anemia does lead poisoning cause?

A
  • mild hemolytic anemia with basophilic stippling
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50
Q

Lead poisoning symptoms

A
  • vague
  • fatigue
  • abdominal pain
  • difficulty concentrating
  • decreased libido
  • muscle weakness
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51
Q

Lead poisoning treatment

A

chelating agents may be needed for those who are symptomatic or with very high levels

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52
Q

How are fragmented RBCs formed?

A

RBC is impaled on fibrin strand in microcirculation, the cell is ripped in two. The larger half becomes a helmet cell and the smaller half becomes a microspherocyte or mishapen fragmented cell.

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53
Q

Membrane disorders will produce what kind of anemia?

A

Hereditary spherocytosis

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54
Q

Enzyme disorders will produce what kind of anemia?

A

G6-PD deficiency

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55
Q

Hemoglobinopathies will produce what kind of anemia?

A

Sickle Cell anemia

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56
Q

What is the cause of hereditary spherocytosis?

A

Genetic mutation –> decreased spectrin and ankyrin –> defect in RBC membrane

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57
Q

Hereditary spherocytosis clinical pearls

A

-jaundice
-elevated bilirubin
-splenomegaly
-gallstones
+/- family history

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58
Q

Lab findings with hereditary spherocytosis

A
  • normocytic anemia
  • increased MCHC
  • Heinz bodies
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59
Q

What is the most common inherited enzyme defect that leads to hemolytic anemia?

A

G6-PD

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60
Q

How was G6-PD discovered?

A

After giving anti-malarial drugs to African American soldiers, they developed hemolytic anemia.
(people with this deficiency have high relative resistance to lethal form of malaria)

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61
Q

What are Heinz bodies?

A

Inclusions within RBCs composed of denatured hemoglobin.

- occur as result of oxidative stress.

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62
Q

Steps in Heinz body formation.

A
  1. heme breaks away from globin
  2. globin oxidant attacks hemoglobin
  3. denatures and forms heinz bodies
  4. macrophages bite out heinz bodies leaving fragile deformed cell
  5. leads to hemolysis
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63
Q

G6-PD Oxidative Stressers include:

A
  • foods (fava beans, broad beans)
  • drugs (including anti-malarial, dapsone, sulfonamides)
  • infections
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64
Q

G6-PD Clinical Pearls

A
  • hemolytic anemia caused by stressor/trigger
  • sx: malaise, weakness, abdominal or lumbar pain, followed by jaundice/dark urine
  • can be abrupt
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65
Q

G6-PD Lab Findings

A
  • normocytic anemia, normochromic, high LDH, elevated unconjugated bilirubin
  • low/absent haptoglobin, peripheral smear shows anisocytosis, polychromasia
  • spherocytes, and BIZARRE POIKILOCYTES with bite cells/blister cells
  • presence of Heinz Bodies
66
Q

What is the most common hemoglobinopathy?

A

Sickle Cell disease

67
Q

What population is more likely to have sickle cell?

A

African Americans

68
Q

Sickle cell inheritance pattern

A

Autosomal recessive

69
Q

What are the steps to sickle cell anemia?

A
  1. mutation leads to abnormal amino acid
  2. abnormal beta globin chain
  3. unstable hemoglobin S
  4. polymerizes under stress
  5. sickled cells
  6. hemolysis
  7. anemia
70
Q

In sickle cell, what replaced Hgb A?

A

Hgb S - result of mutated beta chain (only differs by one amino acid)

71
Q

Sickle cell disease vs. trait

A 
Disease = homozygous state for Hgb S
Trait = heterozygous state for Hgb S
72
Q

What is the lifespan of sickle cells?

A

10-20 days (note that 120 is normal for RBCs)

73
Q

Sickle Cell characteristics

A
  • HbS causes the characteristic sickle shape (less pliable & harder to traverse small capillaries)
  • Sticky membranes (especially reticulocytes) that are abnormally adherent to the endothelium of small vessels, leads to occlusion
  • Causes unpredictable episodes of microvascular occlusion AND premature RBC destruction (hemolytic anemia)
74
Q

Clinical findings of Sickle Cell

A
  • Episodes of pain esp. spine, long bones
  • Jaundice
  • Fever
  • Hepatomegaly, splenomegaly
  • Cardiomegaly
  • Non-healing ulcers over lower tibia
75
Q

What is sickle cell crisis?

A

Intermittent episodes of vasoocclusion leading to painful ischemia & acute pain/tenderness, fever, tachycardia and anxiety (Can last from a few hours to 2 weeks)

76
Q

What is acute chest syndrome in sickle cell?

A

can mimic pneumonia, acute chest pain, hypoxemia, pulmonary infiltrates on CXR

77
Q

Stressors/Triggers for sickle cell

A
  • Infection
  • Fever
  • Excessive exercise
  • Dehydration
  • Abrupt change in temperature
  • Hypoxia (going to the mountains)
78
Q

Screening tests for sickle cell

A
  • Sickle Solubility Test
  • Hemoglobin Electrophoresis
  • Peripheral Smear
79
Q

True/False: there is a test to confirm sickle cell crisis.

A

FALSE - there is no test. Believe your patient when they tell you.

80
Q

Sickle cell crisis treatment

A
  • Vigorous Hydration
  • Treatment of underlying cause such as infection
  • Pain management (morphine, meperidine, ketorolac)
  • Transfusion if needed
81
Q

Acute chest syndrome in sickle cell treatment

A
  • Medical emergency
  • Vigorous O2 therapy
  • Careful with IV fluids to avoid pulmonary edema
  • Transfuse to keep hct >30
  • Exchange transfusion may be needed
82
Q

What is priapism in sickle cell?

A

Sustained, painful erection caused by infarction of penile venous overflow

83
Q

Priapism in sickle cell treatment

A
  • If lasts >3 hrs, is a urologic emergency.
  • Risk of permanent impotence or necrosis.
  • IV hydration and analgesia.
  • If not improved in one hour, blood aspiration and irrigation of the corpus cavernosum with dilute phenylephrine may be needed.
  • Simple exchange transfusions can be considered.
84
Q

Define dactylitis

A
  • Early complication of sickle cell disease
  • Highest incidence 6 mo to 2 years
  • Painful swelling of hands and feet
  • Treatment involves fluids and pain medication
  • Fevers treated as medical emergency
85
Q

Anemia due to acute hemorrhage

A

A liter lost will decrease Hgb by ~1

86
Q

Causes of anemia due to acute hemorrhage

A
  • Heavy menses
  • Trauma, surgery, childbirth
  • GI bleed, colon cancer, gastric ulcer, esophageal varices
87
Q

Work-up for anemia due to chronic blood loss.

A
  • Slow loss over time, gradually depletes iron store, eventually causes iron deficiency anemia.
  • In any NON-MENSTRUATING PERSON, look for colon cancer first!!
  • ALWAYS get a stool guiac, in office per rectal exam, or send home a stool kit with patient.
  • Stool FIT test localizes it to colon, regular hemoccult does not.
  • Even if stool does not detect blood, still send for GI evaluation.
88
Q

List the microcytic (MCV low) anemias

A
  • iron deficiency
  • thalassemia
  • hereditary spherocytosis
  • siderblastic
  • anemia of chronic disease
  • lead poisoning
89
Q

List the normocytic (MCV normal) anemias

A
  • acute blood loss
  • hemoglobinopathies (sickle cell disease)
  • hereditary spherocytosis
  • acute hemolytic anemia
  • chronic disease
90
Q

List the macrocytic (MCV elecated) anemias

A
  • B12 deficiency
  • folate deficiency
  • liver disease
  • myelodysplastic syndrome
  • ETOH abuse
  • thyroiditis
91
Q

What hormone should also be tested for with anemia?

A

TSH - thyroid stimulating hormone

92
Q

What thyroid history is associated with macrocytic anemia?

A

Chronic autoimmune thyroiditis can be associated with pernicious anemia

93
Q

What thyroid history is associated with microcytic anemia?

A

Hypothyroid women of childbearing age can become iron deficient from heavy menses

94
Q

What thyroid history is associated with normocytic anemia?

A

Hypothyroidism can lead to decrease in red cell mass and a normochromic, normocytic hypo-proliferative anemia

95
Q

Microcytic anemia due to production problems diff dx

A

RBC Maturation Problem/Cytoplasm Defect

  • Sideroblastic Anemias
  • Iron Deficiency Anemia
  • Thalassemias
  • Lead poisoning (rare)
96
Q

What labs are associated with microcytic anemias?

A 
Iron
TIBC
% saturation
Ferritin
Reticulocyte count
TSH
Soluble transferrin receptor
Erythropoietin
97
Q

Define sideroblastic anemia

A

The bone marrow produces ringed sideroblasts instead of healthy RBCs
-Can be acquired (bone marrow disease) or a congenital porphyria

98
Q

Why is sideroblastic anemia considered an iron utilization anemia?

A
  • Inadequate marrow utilization of iron for heme synthesis despite normal or even elevated iron levels
  • Impairment of heme synthesis is due to an inability to incorporate iron into protoporphyrin
99
Q

What will you see on peripheral smear for sideroblastic anemia?

A

Presence of polychromatophilia, and stippled RBCs (siderocytes)

100
Q

Congenital Sideroblastic Anemia (3)

A
  • X-linked inheritance (most common)
  • Autosomal inheritance
  • Causes Porphyrias
101
Q

Acquired Sideroblastic Anemia

A
  • Myelodysplastic syndrome (most common)
  • Drugs
  • Ethanol toxicity
  • Lead toxicity
  • Copper deficiency
  • Pyridoxine deficiency (Vitamin B6)
102
Q

Sideroblastic Anemia Treatment

A
  • Elimination of toxin or drug
  • Supplementation with copper or pyridoxine (B6)
  • Treatment of underlying cause if myelodysplasia
  • Congenital cases may respond to Pyridoxine 50mg PO TID, but usually incomplete response
103
Q

Which anemia is the most common worldwide?

A

Iron deficiency anemia

104
Q

What will you see on peripheral smear of iron deficiency anemia?

A

Microcytic
Hypochromic
High RDW

105
Q

What is the earliest and best indication of iron deficiency anemia?

A

Ferritin is the earliest and best indication of Fe deficiency because it accurately reflects body iron stores

106
Q

What are the implications of ferritin being an acute phase reactant?

A

In the presence of Liver disease or inflammation, Ferritin is an acute phase reactant and becomes elevated in the face of inflammation.

*Use Soluble Transferrin Receptor as a confirmatory test in these cases.

107
Q

What lab findings do you expect with IDA?

A

Ferritin↓ Retic↓ TIBC↑

Soluble Transferrin Receptor↑ RDW↑

108
Q

What ferritin level is confirmatory of IDA?

A

Ferritin <15 ng/mL is confirmatory for iron deficiency at ANY hemoglobin level (Microcytosis and low ferritin can happen before you see a drop in Hgb)

109
Q

IDA is almost always due to…

A

BLEEDING
i.e. GI bleed (ulcer, cancer), Menorrhagia, Trauma, Surgery, Excessive phlebotomy, Hematuria, Paroxysmal Nocturnal, Hemoglobinuria, Hemodialysis

110
Q

Which Iron deficient patient needs a GI work up

A
  • All men
  • All women without menorrhagia
  • All women > 50 even with menorrhagia
  • Women < 50 with menorrhagia: consider GI work up based on symptoms, or definitely if stool is positive for occult blood
111
Q

Iron deficiency anemia due to inadequate iron

A

Didn’t Eat It: Decreased oral intake of iron; Dietary deficiency (limited meat, vegan)

Didn’t Absorb It

  • Proton Pump inhibitors (low acid)
  • H. pylori gastritis
  • Inflammatory bowel disease
  • Celiac Disease
  • Atrophic Gastritis
  • Partial Gastrectomy
  • Gastric bypass
112
Q

Iron deficiency anemia due to demand

A

i. e. used up all the stores
- Pregnancy
- Lactation
- Rapid growth in infancy or adolescence
- Erythropoeitin therapy

113
Q

IDA symptoms

A
  • Pica
  • Pallor
  • Glossitis
  • Angular Cheilitis
  • Koilonychias
114
Q

IDA Treatment

A

See Pharm Notes

115
Q

IDA Treatment Response

A
  • Pica for ice disappears almost as soon as therapy starts
  • Patient feels better in a few days
  • Reticulocytosis occurs in 7-10 days
  • Hemoglobin concentration starts to rise after 1-2 weeks. (The deficit should be halved in one month; Normal hgb usually occurs by 6-8 weeks)
  • Re-evaluate patient in 2-4 weeks to check tolerance of oral iron and repeat hgb and retic
  • Wait AT LEAST 4 weeks to re-check iron parameters; ~ after 3 months of therapy.
  • Give Iron replacement until ferritin and transferrin saturation normalize
116
Q

Thalassemia

A

The “other” microcytic hypochromic anemia

117
Q

Thalassemia geographic origins

A

Found in Equatorial Africa, Mediterranean, Middle East, Arab Peninsula, Caribbean, India, Southeast Asia, South China

118
Q

Thalassemia lab findings

A

Microcytic
Hypochromic
RDW normal (unlike iron deficiency)
Target cells

119
Q

Thalassemia is a…

A

Hemiglobinopathy

120
Q

Characteristics of Thalassemia

A
  • Caused by an inherited defect in hemoglobin synthesis which causes a quantitative defect of hemoglobin (versus Sickle Cell anemia is also a defect in hemoglobin, but is a qualitative defect )
  • Common in areas where malaria is endemic (1/200 worldwide; abnormal genes offer some protection against death from malaria)
121
Q

How does Thalassemia occur?

A

Unbalanced synthesis of α and β chains –> intracellular accumulation of unmatched chains –> aggregates as INCLUSION BODIES –> injures RBC

122
Q

Should you give pts with Thalassemia iron?

A

NO!

  • Intramedullary hemolysis causes PERPETUAL HYPERFERREMIA in Thalassemia
  • MCV is much lower in Thalassemia than in Fe+ deficiency
123
Q

Alpha Thalassemia is due to…

A

Decrease in Alpha globin production

124
Q

Alpha Thalassemia

A

Normally there are 4 copies of the Alpha globin gene (two copies on each chromatid of chromosome 16); this is why there are 4 forms of alpha thalassemia

125
Q

How does alpha thalassemia occur?

A

-Decreased α globin production → a relative excess of β globins in adults and an excess of 𝝲 globins in newborns.

126
Q

What are the types of Alpha Thalassemia?

A

-Homozygous Alpha thalassemia = Fetal Hydrops
-Heterozygous Alpha thalassemia = mild anemia
-Hemoglobin H = 4 beta chains; Thalassemia intermedia:
Moderately severe hypochromic microcytic anemia with hemolysis

127
Q

Beta Thalassemia is due to…

A

Decreased β globin production

128
Q

Beta Thalassemia

A

Normally there are 2 copies of the Beta globin genes (one copy on each chromatid of Chromosome 11)

129
Q

What are the clinical features of β Thalassemia Minor or Trait?

A
  • Hb α2β2 is mildly decreased.
  • No accumulation of excess alpha chains.
  • Hypochromia and microcytosis, but no significant anemia or hemolysis
130
Q

What are the clinical features of β Thalassemia Major

or Cooley’s Anemia?

A

No β chain synthesis
No hgb A (α2β2 )
⬆︎⬆︎ α chains
Severe Hemolytic Anemia

131
Q

Characteristics of β Thalassemia Major

or Cooley’s Anemia

A
  • Manifestations occur in early childhood
  • Medullary expansion due to overstimulation of bone marrow
  • Marked splenomegaly and hepatomegaly
  • Abdomen often protrudes because of spleen
  • Cardiac enlargement
  • Iron overload is common
132
Q

Macrocytic anemias due to production problems

A

RBC Maturation Problems/Nuclear Defects

  • B12 Deficiency
  • Folate Deficiency
133
Q

List the causes of macrocytic anemias

A
  • B12 deficiency
  • Folic Acid deficiency
  • Chronic liver disease
  • ETOH
  • Endocrine (Hypothyroidism)
  • Myelodysplasia or aplastic anemia
  • Drugs that impair DNA synthesis: AZT, chemo, azathioprine Chloramphenicol, gold, sulfonamides,
134
Q

B12 and folic acid deficiencies cause…

A

Megaloblastic anemia

  • Both are needed for DNA synthesis
  • If DNA synthesis is impaired, the maturation of the RBC nucleus is slowed while the cytoplasm and hemoglobinazation progresses are unimpaired.
  • The resulting cell is macrocytic
135
Q

Causes of B12 deficiency

A
  • Most common cause = deficiency of intrinsic factor i.e. pernicious anemia
  • Total Gastrectomy
  • Fish Tapeworm
  • Other defects in absorption
  • Strict vegetarian diet
  • Bacteria on plants may provide some B12
136
Q

Causes of Folic Acid (B9) Deficiency

A
  • Most common cause = inadequate oral intake (green leafy veggies)
  • Pregnancy, Hemolytic anemias
  • Malabsorption syndromes (Celiac dz, Tropical Sprue)
  • Inadequate utilization: Ascorbic acid deficiency
  • ETOH
137
Q

What is the importance of intrinsic factor?

A
  • Intrinsic factor is essential for absorption of B12 in the GI tract
  • it is produced by parietal cells in the stomach
  • if there is no intrinsic factor in stomach (pernicious anemia), then there will be no absorption in ileum
138
Q

What groups of people is pernicious anemia most commonly found in?

A

Pernicious anemia is most frequently seen in individuals of Northern European descent and African Americans
-Average presenting age near 60, rare under age 30.

139
Q

Megaloblastic Anemia lab findings

A
  • MCV >100
  • Retic Count Decreased
  • Peripheral Smear: Hyper-segmented neutrophils, ovalocytes, anisocytosis, poikilocytosis, Howell-Jolly bodies
  • Other Cells: Leukopenia and thrombocytopenia occurs commonly in pernicious anemia
140
Q

B12 and Folate deficiencies also cause

A

abnormalities in the maturation of GRANULOCYTES

141
Q

What system is only affected by B12 deficiency?

A

NEUROLOGIC

  • Peripheral neuropathy (paresthesia, hyporeflexia)
  • Spinal cord degeneration (gait instability, weakness, hyperreflexia, reduced vibratory and position sense)
  • Dementia and disorientation
142
Q

What systems are affected by both B12 and Folic Acid deficiency?

A

GI
Reproductive
Skin

143
Q

B12 Supplementation

A

Cyanocobalamin 1000 mcg SC/IM Daily x 1 week then Weekly x 1 mo, then monthly

144
Q

Folic Acid Supplementation

A
  • Usual dose is 1mg/ day
  • Pregnant women need to take Folic Acid
  • All patients with hemolytic anemia need Folic Acid
145
Q

Megaloblastic Anemia response to treatment

A
  • Mental changes and tongue soreness improve almost immediately
  • After 4-5 days, reticulocytosis appears, may elevate MCV further
  • Soon thereafter, the hgb increases
  • Neuropathic abnormalities improve slowly over several months, but may never disappear entirely if longstanding.
146
Q

Normocytic anemias due to Production Problems

A

Bone Marrow Production Defects/Hypoproliferative:
Aplastic Anemia
Anemia of Chronic Disease/Chronic Inflammation
Myelofibrosis
Cancer
Chronic Renal Disease

147
Q

Anemia of Chronic Disease

A
  • Associated with proinflammatory cytokines (cytokines suppress erythropoiesis)
  • One of the most common forms of anemia seen clinically
  • Typically a mild anemia
  • Differentiated from iron deficiency anemia by the elevated ferritin level
148
Q

Anemia of chronic disease causes

A

COMMON CAUSES: inflammation, infection, tissue injury, or neoplastic disease
OTHER CAUSES: Severe Trauma, Diabetes, increased age, immune activation

149
Q

Anemia of chronic disease lab findings

A
  • Low reticulocyte count (hypoproliferative)
  • Usually Normochromic, Normocytic
  • Anemia is usually mild
  • Ferritin will be high (NEVER low)
  • Soluble Transferrin Receptor is normal
150
Q

Anemia of chronic disease etiology

A

Chronic Inflammation

  • ->increased cytokines
  • -> increased release of HEPCIDIN
  • -> iron RETENTION in cells (hepatocytes, enterocytes, macrophages)
  • -> decreased release of iron
  • -> normocytic anemia
151
Q

Hepcidin

A

main iron regulating hormone in the liver

152
Q

Hepcidin function

A

Binds and degrades ferroportin which decreases functional activity of ferroportin leading to decreased iron release into plasma

  • Ferroportin = iron export protein located on cells, releases iron into plasma
  • Hepcidin is an acute phase reactant, is upregulated by inflammatory cytokines
153
Q

Hepcidin levels

A
  • are low in iron deficiency and other anemias

- levels increase with infections and inflammation (is an acute phase reactant)

154
Q

Aplastic anemia

A
  • Most cases are idiopathic!
  • Can be acquired or inherited
  • Damage/Injury to bone marrow  failure
  • Hallmark is pancytopenia
  • Can be abrupt onset or insidious
  • Diagnosis confirmed with bone marrow biopsy
155
Q

Aplastic anemia diagnosis

A

Combination of pancytopenia with a fatty empty bone marrow on biopsy

156
Q

Aplastic anemia epidemiology

A
  • Women and men equally affected

- Bi-phasic age distribution (teens & twenties, second rise in elderly)

157
Q

Aplastic Anemia Biopsy

A

Abnormal bone marrow biopsy: Bone marrow hypocellularity

158
Q

Causes of aplastic anemia (acquired vs. inherited)

A

ACQUIRED:

  • Cytotoxic Chemotherapy
  • Benzene (solvent)
  • Radiation
  • Viral (?) Hepatitis, HIV, EBV (rare), Parvovirus B19
  • Pregnancy
  • Immune disease

INHERITED

  • Fanconi’s anemia
  • Dyskeratosis congenita
  • Shwachman Diamond syndrome
  • Familial aplastic anemias
  • Reticular dysgenesis
  • Preleukemia
159
Q

Aplastic anemia clinical presentation

A
  • Bleeding is the most common early symptom
  • Easy bruising, bleeding gums, nose bleeds, heavy menstrual flow
  • Petechiae are sometimes noted
  • SOB, weakness, pounding sensation in the ears
  • Symptoms are typically restricted to the hematologic system
  • Patients often feel and look well despite MARKEDLY low blood counts
  • Infection is rarely a presenting symptom
160
Q

Aplastic anemia treatment

A
  • Can be fatal if untreated
  • Bone marrow transplant (curative)
  • Immunosuppression (combo): IV ATG (anti-thymocyte globulin) + Oral Cyclosporine
  • -Side Effects of ATG: serum sickness
  • -Side Effects: nephrotoxicity, seizures, HTN, opportunistic infection
  • Transfusions to maintain RBCs and platelets
  • Suppress menstruation in females
  • Avoid ASA and NSAIDs, blood thinners

Heme/Genetics (15 decks)

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