Exam 3 Flashcards

1
Q

Transferrin

A

Absorbed iron is carried by this

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2
Q

Ferritin

A

Stores excess iron

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3
Q

Patho/mechanism of disease of iron deficiency anemia

A

Blood loss, reproduction and growth, inadequate iron intake

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4
Q

Symptoms of anemia’s

A

Fatigue
Tachycardia
Palpitations
Dyspnea or tachypnea on exertion

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5
Q

Pica

A

Common in iron deficiency patients

Craving for specific food, even if it doesn’t contain iron

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6
Q

Cheilitis

A

Irritation at corners of mouth

Seen in iron deficiency anemia

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7
Q

Glossitis

A

Smooth red tongue, common in anemia’s

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8
Q

Koilonychia

A

Spoon nails, common in iron deficiency anemia

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9
Q

Plummer Vinson syndrome

A

Dysphagia due to esophageal webs, seen only in severe disease of iron deficiency anemia

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10
Q

Lab eval for iron deficiency anemia

A

Microcytic, hypochromic

May see elevated RDW early in disease

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11
Q

Ferritin levels in iron deficiency anemia

A

Decreased

**will be falsely elevated in inflammation

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12
Q

B12 characteristics

A
Cobalamin 
Produced in microbes
100% needed from diet
Stores well in tissues
Takes years to deplete stores
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13
Q

B12 deficiency anemia causes

A

Nutritional deficiency

Inadequate absorption

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14
Q

Pernicious anemia

A

Large prevelance in patients 60+

Autoimmune destruction of gastric mucosa

Decreased instrinsive factor, causing severe b12 malabsorption

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15
Q

General cobalamin metabolism

A

Made into transcobalalmin, goes into cells, bings to MMcoA, donates methyl to DNA RNA, proteins, etc.

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16
Q

Why does b12 deficiency cause macrocytic anemia?

A

Accumulation of genetic material

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17
Q

B12 deficiency anemia signs and symptoms

A

Can cause leukopenia/thrombocytopenia

Glossitis, anorexia, diarrhea

**neuropathy! Stocking/glove distribution

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18
Q

B12 anemia lab testing

A

Low cobalamin
MMA and/or homocysteine levels elevated
Macrocytosis

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19
Q

Folic acid deficiency general characteristics

A

Neural tube defects (spina bifida) in pregnancy, congenital heart disease

Abundant in citrus and leafy greens

2-3 month store

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20
Q

Folic acid deficiency causes

A

Increased demand, dietary deficiency, drugs

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21
Q

Folic acid deficiency anemia signs and symptoms

A

Similar to b12, often simultaneous

**no neural abnormalities!!!

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22
Q

Lab testing for folic acid deficiency

A

Low serum folic acid

Cobalamin to rule out b12 deficiency

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23
Q

Thalassemias pathophysiology

A

Defective globin synthesis

Leads to microcytic, hypochromic anemia

Asian, black, Mediterranean patients

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24
Q

Alpha thalassemia pathophysiology

A

Gene deletion reduces alpha globin chain synthesis

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25
Q

Beta thalassemia pathophysiology

A

Point mutation, decrease or absent beta chain synthesis

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26
Q

How can you distinguish alpha and beta thalassemia?

A

Beta has basophilic stippling (also seen in lead poisoning)

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27
Q

Severe thalassemia, consider…

A

Splenectomy

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28
Q

Autoimmune hemolytic anemia

A

Autoantibodies form against RBC membrane causing hemolysis

IgG binds at body temp- autoimmune hemolytic anemia, warm auto Abs

IgM binds at cooler temps- cold agglutinin disease

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29
Q

Coombs test diagnoses…

A

Autoimmune hemolytic anemia

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30
Q

Sickle cell disease general characteristics

A

Autosomal recessive, amino acid substitution on beta globin chain

Hb S is unstable and prone to polymerization with other Hb S, leads to suckling

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31
Q

What are common triggers of sickling?

A

Hypoxemia and acidosis, deoxygenated Hb S

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32
Q

Heterozygous sickle cell…

A

Are typically hematologically normal

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33
Q

Homozygous sickle cell disease…

A

Causes the disease

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34
Q

Sickle cell disease diagnosis

A

Chronic hemolytic anemia
Sickle D cells visible on smear
Elevated acute phase reactants
Hemoglobin electrophoresis** confirmatory test

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35
Q

Sickle cell disease manifestations

A

Vaso-occlusive episodes/ crises

Acute chest syndrome- respiratory failure due to emboli, thrombosis, sometimes infection

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36
Q

Sickle cell and the spleen

A

Spleen is very active in removing old RBC and RBC fragments

Splenomegaly, splenic sequestration, can lead to hypocalcemia shock

Can cause auto splenectomy

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37
Q

Sickle cell disease traetment

A

Stem cell transplant for kids

**pain management

Hydroxyurea

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38
Q

Paroxysmal nocturnal hemoglobinuria General

A

Rare

Gene on X chromosome, but not X linked

Abnormal RBC vulnerability to complement (Coombs negative)

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39
Q

PNH symptoms/signs

A

Hemoglobinuria, jaundice, bone marrow suppression, increases at night

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40
Q

PNH labs

A

Flow cytometry, sorts and identifies cell types

**severe disease needs to be treated

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41
Q

Aplastic anemia

A

Injury or suppression of heme stem cell- marrow failure and inability to make mature blood cells

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42
Q

Hereditary Spherocytosis

A

RBC membrane protein defect, leads to hemolysis due to membrane fragility

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43
Q

Spherocytosis diagnosis

A

Osmotic fragility testing

Spherocytes in peripheral smear

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44
Q

G6PD deficiency

A

G6PD decreases oxidative stress, so a deficiency leads to denatured proteins

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45
Q

G6PD deficiency RBC presentation

A

Heinz bodies

RBC membrane damaged

Bite cells in peripheral smear

**enzyme assay confirms low G6PD

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46
Q

Anemia of chronic disease

A

Microcytic

Commonly from inflammation, organ failure, old age

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47
Q

Extrinsic pathway general

A

Triggered by tissue damage, started from exposure to tissue factor

Quick, small steps to form thrombin, positive feedback loop

Prothrombin time evaluates this pathway

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48
Q

Intrinsic pathway general

A

Trauma to blood or exposed collagen, less potent enough than extrinsic pathway

PTT evaluates this pathway

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49
Q

Plasminogen is activated to…

A

Plasmin, which does fibrin degredation

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50
Q

Platelet range indicative of platelet transfusion

A

<10-20 k

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51
Q

Petechiae

A

No blanching, erythematous or violaceous lesion

<3 mm

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52
Q

Purpura

A

3-10 mm

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53
Q

Ecchymosis

A

> 10 mm

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54
Q

Hemorrhagic bullae

A

Fluid filled lesion >10 mm

Vasculitis, necrotizing infections, etc

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55
Q

Thrombocytopenia in pregnancy

A

Often due to expanded plasma volume, HELLP

Hemolysis, elevated liver enzymes, low platelets

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56
Q

Pseudo thrombocytopenia

A

Platelet clumping can occur in lab testing, but citrated platelet count can verify true vs. pseudo thrombocytopenia

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57
Q

Immune Thrombocytopenia general

A

Dz of young women

Circulating antiplatelet autoantibodies, insufficient platelet production

Thrombopoietin levels low

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58
Q

Immune thrombocytopenia manifestations

A

Some asymptomatic

Mucocutaneous bleeds, mild nosebleeds

Some severe bleeds

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59
Q

ITP work up/treatment

A

Isolated thrombocytopenia on CBC

60
Q

Thrombotic microangiopathy

A

2 forms, thrombotic thrombocytopenic purpura and hemolytic-uremic syndrome

61
Q

Thrombotic thrombocytopenic purpura general

A

Deficiency of ADAMTS13

Causes huge multimers and then thrombus formation

62
Q

Thrombotic thrombocytopenic purpura manifestations

A
Classic Pentad-
Thrombocytopenia
Anemia
Fever
Neurological problems
Renal abnormalities 

**rare

More likely to see thrombotic complications

63
Q

Hemolytic uremic syndrome

A

Very similar to TTP, kids, endemic HUS usually caused by bacterial diarrhea

64
Q

Heparin induced thrombocytopenia

A

IgG antibodies formed to heparin-platelet factor 4 complex

Usually asymptomatic, within 5-10 days starting heparin

65
Q

Disseminated intravascular coagulation

A

Uncontrolled coagulation

Depletes the clotting system, causing lots!! Of bleeding and ischemic events

66
Q

Disseminated intravascular coagulation related conditions

A

HELLP syndrome and sepsis

67
Q

Hemoch- schonlein purpura

A

Systemic vasculitis in kids

Palpable purpura, arthritis, hematuria, maybe abdominal pain

68
Q

Hemophilia A

A

Deficiency of factor VIII

69
Q

Hemophilia B

A

Deficiency of factor IX

70
Q

Genetics of hemophilia

A

X linked recessive, affects males and females will be carriers

71
Q

Hemophilia clinically

A

Severe cases develop spontaneous hemarthroses and soft tissue bleeds

72
Q

Hemophilia C

A

Factor XI deficiency

Mild bleeding risk, usually detected in surgery or trauma

Can supplement factor XI

73
Q

Von willebrand disease general

A

Most common inherited bleeding disorder

Type 1- mild to moderate platelet type bleeding, epistaxis >10 and bleeding after dental work

Type 2,3- moderate to severe bleeding in childhood, may look like hemophilia

74
Q

VWD diagnosis and treatment

A

Ristocetin cofactor activity

Type 1 traetment- DDAVP (des oppression)

75
Q

Vitamin K deficiency

A

Vitamin K needed to activate 1971

76
Q

Antiphospholipid antibody syndrome general

A

Autoantibodies to phospholipids (not SLE)

Phospholipids involved in much of the coag cascade

77
Q

Anti phospholipid antibody syndrome symptoms

A

Venous or arterial conclusions, recurrent fetal loss

Need to rule out SLE

78
Q

Factor V Leiden mutation

A

Most common inherited cause of hypercoagulability

Resistance to activated protein C, more common for DVT with homozygous

79
Q

Suspect factor V Leiden mutation if….

A

Thrombosis on OCP

Cerebral vein thrombosis

DVT/PE in white patients

80
Q

MGUS general

A

Asymptomatic premalignant clonal proliferation

Absence of end organ damage
Variable risk of progression

Non-igm MGUS
igm mgus
Light chain mgus

81
Q

Abnormality on testing should prompt a …

A

Bone marrow biopsy

82
Q

When MGUS is found, what is the course of action?

A

WATCH, multiple myeloma is preceded by this.

83
Q

MGUS complications

A

Fracture

Thromboembolism

Secondary cancer

84
Q

MM general

A

Heme malignancy, stem cells that differentiated into plasma cells

In elderly

MGUS and end organ damage*

Malignant plasma cells can form tumors, bone dz means increased osteoclast activity

85
Q

Bence jones proteins

A

In multiple myeloma, M proteins/globulin found in the urine

86
Q

Amyloidosis

A

Found in multiple myeloma

Light chain fragments that aggregate into tangles, common cause of renal impairment and proteinuria

87
Q

Multiple myeloma presentation

A
Anemia
Bone pain
Infection (pancytopenia)
Renal dz
Hyperviscosity
88
Q

Multiple myeloma diagnosis

A

Pancytopenia
Anemia
**rouleaux, bundles of RBCs suggesting para proteins
Bone marrow biopsy to confirm dx

89
Q

Smoldering myeloma

A

Meets hematologic criteria for multiple myeloma, but has no end organ damage

**just observe, like MGUS

90
Q

Neutropenia

A

Absolute neutrophil count <1800

Greatest risk of infection if < 500

91
Q

Congenital neutropenia

A

Genetic disruption of neutrophil development

High risk of infection, heme cancers in adolescence, early onset osteopenia and osteoporosis

92
Q

Neutropenic fever

A

Hematologic emergency!!

Someone with neutropenia that develops a fever is treated very aggressively

93
Q

Bone marrow transplant general

A

Allogenic-from an outside source

Recipient needs chemo before to clear out abnormal marrow cells

94
Q

Myeloproliferative neoplasms general

A

Acquired clonal abnormality of heme stem cell

Shift into different types, but any can progress to acute myeloid leukemia

95
Q

Polycythemia vera general

A

Overproduction of all 3 hematopoietic lines

EPO is low, yet RBCs still being produced

JAK2 mutation

96
Q

Signs/symptoms of polycythemia vera

A

Hypervolemia/increased blood viscosity

Pruritus after a warm shower

Epistaxis

97
Q

Polycythemia vera complications

A

Splenomegaly!!

Hallmark: elevated Hct

98
Q

Primary myelofibrosis general

A

Fibrosis of the bone marrow, extramedullary hematopoiesis takes place in the liver, spleen and lymph nodes

JAK2 or MPL gene mutations common

99
Q

Primary myelofibrosis presentation

A

Fatigue, splenomegaly, bleeding, bone pain

100
Q

Primary myelofibrosis diagnosis

A

Anemia

Bone marrow biopsy is a dry tap or collagen

101
Q

Essential thrombocytosis general

A

Proliferation of megakaryocytes and a rise in platelet counts

JAK 2 mutation

102
Q

Essential thrombocytosis presentation

A

Asymptomatic thrombocytosis, splenomegaly, VTE

Rare: erythromelalgia (painful burning of hands with erythema)

103
Q

Essential thrombocytosis bone marrow biopsy

A

Increased megakaryocytes

104
Q

Myelodysplastic syndrome

A

Cluster of acquired clonal disorders of heme stem cells

Hyper or hypo cellular marrow, cell abnormalities

Preleukemia

105
Q

Myelodysplastic syndrome presentation

A

> 60 years old
Usually asymptomatic
Fatigue, infection, or bleeding
Splenomegaly

106
Q

Paraneoplastic syndromes

A

Rare disorders triggered by an altered immune system response to a neoplasm

Symptoms that result from substances produced by the tumor or antibodies against cancer

107
Q

What is leukemia?

A

Neoplastic disorders of white blood cells with the origin of the problem in the stem cell

Lymphoid or myeloid cell lines at any stage

As population of cells expands, bone marrow starts to fail

108
Q

Acute lymphoblastic leukemia general

A

Lymphoblasts arrest in early development, then proliferate

Replaces normal marrow, circulating blasts, effects b and t cells

Most common childhood malignancy

109
Q

Acute lymphoblastic leukemia manifestations

A

Fever without infection
Fatigue
Bone pain (marrow replacement)

110
Q

Confirm acute lymphoblastic leukemia with…

A

Bone marrow biopsy with 20% or more blasts

Also, Ph chromosome means poor prognostic factor

111
Q

Tumor lysis syndrome

A

Oncologic emergency!!

Metabolic abnormalities caused by release of intracellular contents

Renal failure, hypocalcemia, hyperkalemia, hyperuricemia, hyperphosphatemia

112
Q

Chronic lymphoblastic leukemia general

A

Older patients, ~70

Incidentally discovered lymphocytosis, may be >100K

113
Q

Chronic lymphoblastic leukemia presentation

A

Fatigue
LAD
HSM

Hypogammaglobulinemia

Low CD4 count, t cell deficiency

114
Q

Hairy cell leukemia

A

Subtype of chronic lymphoblastic leukemia

Need:
Pancytopenia
Splenomegaly
Hair cells present on blood smear or BMbx

MEN around 50 years old

115
Q

Acute myeloid leukemia general

A

Arrest of maturation in marrow cells, pancytopenia

20% or more blasts

116
Q

Acute myeloid leukemia presentation

A

Related to cell deficiencies, like bleeding, fatigue and infection

Organ infiltration

Leukostasis

117
Q

Acute myeloid leukemia pathognomonic finding

A

Auer rods in cytoplasm

Pancytopenia + blasts

118
Q

Acute promyelocytic leukemia general

A

Differentiation stops at promyelocytes

Hyperacute but highly curable

119
Q

Acute promyelocytic leukemia presentation

A

Presents like acute myeloid leukemia, but with coagulopathy

~40

120
Q

Chronic myeloid leukemia general

A

Disorder of middle age

Hypermetabolic state, overproduction of white blood cells

121
Q

Chronic myeloid leukemia presentation

A

Fatigue, night sweats and low grade fever

Splenomegaly

Myelocyte buldge

122
Q

What is the myelocyte buldge?

A

Myelocytes outnumber more mature metamyelocytes in peripheral blood

Seen in chronic myeloid leukemia

123
Q

What leukemia is prone to blast crisis?

A

Chronic myeloid leukemia

124
Q

Leukemia cutis

A

Single or multiple nodules in the absence of systemic findings

Often asymptomatic lesions, but could have other signs of leukemia

125
Q

Lymphoma general

A

Solid cancers of lymphocytes

126
Q

Non hodgkin lymphoma general

A

Peak between 20-40 years

Mostly B cell

127
Q

Non Hodgkin lymphoma presentation

A

Painless LAD, local or widespread

“B” symptoms
-fever, drenching night sweats, weight loss >10%

128
Q

Non hodgkin lymphoma diagnosis

A

Lymph node biopsy

Peripheral blood often normal, CBC will NOT make diagnosis, need the biopsy

129
Q

Indolent non hodgkin lymphoma

A

Follicular, marginal zone, little node thing

130
Q

Waldenstroms macroglobulinemia

A

Monoclonal IgM paraprotein, low grade non hogdkin lymphoma

B cells that are hybrid of lymphocytes and plasma cells

131
Q

Waldenstroms macroglobulinemia presentation

A

Rouleaux

Fatigue/anemia

Hyperviscosity

Cold agglutinin dz!

132
Q

Aggressive non hodgkin lymphoma

A

Sezary syndrome, Burkitt lymphoma, cns lymphoma, peripheral t cell, mantle cell lymphoma

133
Q

Non hodgkin lymphoma staging

A

Ann arbor staging

1- one node region
2- two+ node regions on same side of diaphragm
3- node regions on both sides of diaphragm
4- disseminated dz

134
Q

Mycosis fungoides

A

Slowly progressive cutaneous t cell lymphoma

Can present just in skin for decades

135
Q

Hodgkin lymphoma general

A

Reed stern berg cells! (Abnormal B cell precursor)

EBV most common cause

Usually localized to single group of nodes

136
Q

Where do you see schistocytes?

A

Microangiopathic hemolytic anemia

**TTP and HUS

137
Q

What is the cornerstone of therapy for TTP?

A

Plasmapheresis/plasma replacement

138
Q

HIT is more common in what type of heparin?

A

Unfractionated

139
Q

What is the diagnostic test for HIT?

A

ELISA

Serotonin release assay**gold standard

140
Q

Presentation of heparin induced thrombocytopenia

A

Usually asymptomatic

Thrombosis!

141
Q

What substance is decreased in PNH?

A

Nitric oxide

142
Q

What is the likely diagnosis if PNH causes bone marrow suppression?

A

Aplastic anemia

143
Q

What 2 diseases that have mild bleeds can be treated with desmopressin?

A

Hemophilia A and wonvillebrand disease

144
Q

What is the most common inherited thrombophilia?

A

Factor V Leiden mutation

145
Q

What is the diagnostic test for MGUS?

A

SPEP

146
Q

What are the two best tests for diagnosing leukemia?

A

Bone marrow biopsy and flow cytometry

147
Q

Philadelphia chromosome is commonly found in…and sometimes in…

A

Chronic myeloid leukemia

Acute lymphoblastic leukemia