Phase 2 PEDs > Hematologic D/O > Flashcards

Hematologic D/O Flashcards

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1
Q

Alpha Thalassemia has how many versions?

A

4

  1. Silent (1 mutation)
  2. Alpha-Thalassemia trait (2 mutations)
  3. Hgb H disease (3 mutations)
  4. Bart Hgb/hydrops fetalis (4 mutations)
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2
Q

Beta Thalassemia has how many version?

A

3

    • Thalassemia Minor (1 mutation)
    • Thalassemia Intermedia (2 mutations)
    • Thalassemia Major (2 mutations)
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3
Q

Alpha Thalassemia w/ 1 gene mutation S/S?

A

Silent carrier

- Asymptomatic

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4
Q

Alpha Thalassemia w/ 2 gene mutation S/S?

A

Alpha Thalassemia trait

  • mild microcytic anemia
  • mild decreased MCV, H/H
  • NL retic count, Hgb electrophoresis
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5
Q

Alpha Thalassemia w/ 3 gene mutation S/S?

A

Hgb H disease

  • Microcytic anemia and mild hemolysis
  • Hgb Electrophoresis = High hgb-H (B4)
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6
Q

Alpha Thalassemia w/ 4 gene mutation S/S?

A

Bart Hgb/hydrops fetalis

  • Severe anemia
  • CHF - heath in-utero or at birth.
  • Anasarca
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7
Q

TXT of Alpha Thalassemia w/ 3 gene mutation?

A

Supplement Folic acid
Genetic counseling
Occ. Transfusion if ever during a crisis

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8
Q

Anasarca is?

A

Generalized swelling throughout body

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9
Q

Beta Thalassemia w/ 1 gene mutation S/S?

A

Thalassemia Minor trait

- Mild microcytic anemia

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10
Q

Beta Thalassemia w/ 1 gene mutation genotype?

A

-Heterozygous- (1 normal gene)
B/B+ -Reduced beta chain synthesis (B+)
or
B/B0 -No beta chain synthesis (B0)

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11
Q

Beta Thalassemia w/ 2 gene mutation compound heterozygous S/S?

A

Thalassemia intermedia

  • Moderate hemolysis
  • Splenomegaly
  • Mod-Sev anemia (no TRXF yet)
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12
Q

Beta Thalassemia w/ 2 gene mutation compound heterozygous genotype?

A 
Thalassemia intermedia
-Compound Heterozygous-
B+/B+ -both reduced beta chain synth
or
B+/B0 -1 is reduced beta synth (B+) - No beta synth (B0)
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13
Q

Beta Thalassemia w/ 2 gene mutation compound heterozygous Hgb electrophoresis result?

A

High Hgb A2 (Alpha 2, Delta 2)

High Hgb F (Alpha 2, Gamma 2)

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14
Q

Beta Thalassemia w/ 2 gene mutation homozygous S/S?

A 
-Cooleys Anemia or Thalassemia Major-
Severe hemolysis w/ bad EPO = Trxf dependent
Anemic Crisis REQ Trxf by 2mo
Hepatosplenomegaly
Hemochromatosis
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15
Q

Hemochromatosis is?

A

Iron overload

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16
Q

Beta Thalassemia w/ 2 gene mutation homozygous TXT?

A

Deferoxamine - Iron chelation for Hemochromatosis

Hematopoietic stem cell TrxP (High Success rate)

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17
Q

Beta Thalassemia w/ 2 gene mutation homozygous Hgb electrophoresis result?

A

High Hgb-F (Alpha 2, Gamma 2) - Lack of normal Hgb A

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18
Q

Beta Thalassemia w/ 2 gene mutation homozygous genotype?

A

B0/B0 - No Beta-chain synth

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19
Q

Sickle cell trait genotype?

A

S/A - heterozygous for Hgb S gene (Asymptomatic)

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20
Q

Sickle cell disease genotype?

A

S/S - homozygous for Hgb S gene (Severe Anemia)
= no Hgb A
- Hgb F distributed

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21
Q

Triggers of SCA?

A

Hypoxia / Acidosis

Fever, Hypothermia, Dehydrated

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22
Q

Pathophys SCA?

A

Sickled RBC cannot move through capillary system
= Thrombosis
= Sequestration
= Infarction

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23
Q

Infants w/ SCA may present w/?

A

Life threatening infections by 4mo due to splenic dysfx

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24
Q

What organisms are SCA pts susceptible too?

A

Encapsulated bacteria (Streptococcus Pneumoniae)
or
Parvovirus B19

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25
What Organ issues are involved w/ SCA?
Splenic infarction (2-4yo) Hand/Foot swelling Priapism (6-20yo)
26
2 types of vasocclusive events experienced by SCA?
Pain crisis | Acute chest syndrome
27
MC type of vasocclusive event?
Pain crisis
28
SCA Pain crisis is?
Pain localized to Arm/Leg long bones lasting 2-7d
29
Complication of a SCA Pain crisis?
Femoral head avascular necrosis
30
TXT of a SCA pain crisis?
Fluids - O2 | Analgesics (Narc/Nsaid)
31
SCA acute chest syndrome is?
Vasocclusive crisis w/in lungs - ass/w infection or infarction
32
CXR of SCA pt w/ acute chest syndrome will show?
New infilitrate
33
S/S of SCA acute chest syndrome?
1st CP > Cough, INC HR/RR, hypoxia, Resp distress | PE - DEC breath sounds, dull percussion
34
TXT of SCA acute chest syndrome?
Fluids/O2 Analgesics ABX B-Dils, incentive spirometry, RBC Trxf
35
Complications of SCA?
Splenic Sequestrian Crisis Fx Asplenia Stroke (Overt vs Silent (no neuro findings) Aplastic crisis (Fifth dz) Infection/Respiratory distress Bone pain - Femoral head avascular necrosis
36
Number one cause of death of SCA w/ Fx Asplenia?
Sepsis (S. Pneumo or Salmonella Osteomyelitis) | - Spleen cant sequester
37
Splenic sequestration crisis pathophys?
Splenic pooling of RBC's due sickling > Hyperacute drop in H/H > Hypovolemia
38
What organism will throw SCA pt in Aplastic crisis?
Parvovirus B19 (5th disease)
39
Pathophys os aplastic crisis in SCA?
B19 virus infects RBC precursors in BM > | Anemia ensues
40
SCA and fever req what W/U?
R/O sepsis
41
Chronic TXT of SCA?
``` Hydroxyurea - ( increases hgb F production) Stem cell Trxp (HLA match = curative) Daily PO PCN at Dx for prophylaxis Vaccinate! Folate supplement ```
42
Types of RBC enzyme deficiencies?
G6PD | Pyruvate kinase deficiency
43
G6PD pathophys?
Glutathione is reduced and absorbs free radicals > Free radicals damage/oxidize Hgb = Heinz bodies> RBC membrane fragility > Hemolysis
44
S/S G6PD?
Hgb-uria Anemia Jaundice (24-28h of ingestion of oxidizing agents)
45
CBC differential stand out clues of G6PD deficiency?
Heinz bodies | Bite cells - RBC bit by Macrophages eating Heinz body
46
Compounds ass/w exacerbating G6PD deficits?
``` Fava beans/Mothballs (naphthalene) Sulfa Rx ASA Primaquine Nitrofurantoin Serious infection ```
47
Dx of G6PD req?
G6PD levels | NADPH production
48
TXT of G6PD?
Avoidance of oxidative Rx/Agents | Support
49
Pathophys of Pyruvate Kinase (PK) deficiency?
ATP depletion > Na/K pump fails > Rigid RBC impairs survivability
50
S/S of Pyruvate Kinase (PK) deficiency?
Hemolysis > Anemia/jaundice
51
Dx of Pyruvate Kinase (PK) deficiency?
PK activity
52
TXT of Pyruvate Kinase (PK) deficiency?
Neonates - req Trxf | Splenectomy if severe
53
Types of hemostatic disease?
``` Idiopathic Thrombocytopenic purpura (ITP) Wiskott-Aldrich syndrome Hemophilia (A/B) vW Dz Kawasakis Henoch-Schonlein Purpura (HSP) ```
54
Define thrombocytopenia?
<150k
55
Spontaneous Bleed risk of PLT value?
<20k
56
Bleeding risk only if surgery/major trauma PLT value?
<80k
57
Petechiae is?
Non-blanching lesions <2mm in size
58
Purpura is?
Adjoining petechiae (+- raised/palpable)
59
Hematoma is?
Raised, Palpable ecchymoses
60
Thrombocytopenic causes of bleeding?
ITP | Wiskott-Aldrich syndrome
61
Coagulopathic causes of bleeding?
vW Dz | Hemophilia A/B
62
Vasculitis causes of bleeding?
Kawasakis | Henoch-Schonlein purpura
63
MC childhood bleeding D/O?
ITP
64
Pathophys of ITP?
Autoimmune - IgG/IgM binds PLTs > - PLTs coated w/ ABs are destroyed in spleen
65
Etiology/epidemiology of ITP?
Young children 1-4w s/p viral infection
66
S/S of ITP?
1-4w s/p viral infection > Petechiae, purpura Epistaxis, bleeding gums, hematuria
67
Dx of ITP?
CLinical and PLT count
68
Labs of ITP?
Severe decreased PLT BM Bx - Increased megakaryocytes EVERYTHING else is NL
69
TXT of ITP w/ PLT >30k?
No TXT - resolves w/in 6mo
70
TXT of ITP w/ PLT <10k?
Prednisone IVIG IV Anti-D (if Rh Positive Pt) Splenectomy if life threat
71
TXT of chronic ITP lasting >6mo?
R/O 2ndy causes - SLE or HIV | Splenectomy
72
Definitive TXT of ITP is?
Splenectomy
73
Wiskott-Alrich syndrome is?
Cytoskeletal protein defect in Lymphocytes and PLTs
74
What cells does Wiskott-Alrich syndrome affect?
Lymphocytes and PLTs
75
S/S of Wiskott-Alrich syndrome?
Hypogammaglobinemia Eczema Thrombocytopenia
76
CBC diff of Wiskott-Alrich syndrome shows?
Small PLTs
77
Wiskott-Alrich syndrome TXT?
Splenectomy improves PLT levels
78
What is genetic inheritance of Wiskott-Alrich syndrome?
X-Linked
79
What is the genetic inheritance of Hemophilia?
X-Linked
80
Differences of Hemophilia A vs B?
A - VIII (8) deficit (inherited or spontaneous) | B - IX (9) deficit
81
Which hemophilia is MC?
Hemophilia A
82
How different is TXT for hemophilia A vs B?
They are exactly the same EXCEPT | Hemophilia A - Desmopressin (increase VIII, vWF)
83
S/S of Hemophilia?
Severe hemophilia - Symptomatic 1st yr of life - Spon/Excess bleeding - minor trauma - Hemarthosis - bleed into joints
84
Severity of hemophilia is based upon?
Degree of factor deficit
85
Coag studies of Hemophilia?
PTT - prolonged PT/Bleed time - NL Factor assay
86
Definitive Dx of Hemophilia?
Factor assay
87
TXT of hemophilia?
Avoid trauma/risks Factor replacement Recombinant factors
88
Hemophilia A additional TXT?
Desmopressin (Increase VIII and vWF synth)
89
MC congenital bleeding d/o?
vW Dz
90
What is vW Dz?
Deficit in quantity OR fx of vWF
91
Fx of vWF?
Bridges PLTs and subendothelial collagen | Binds VIII to keep from clearing circulation
92
Subtypes of vWF?
Type 1 - Decreased production of vWF Type 2 - NL production - defective protein Type 3 - No production (Rare)
93
MC subtype of vWF?
Type 1 (decreased production of vWF)
94
Genetic inheritance of vWF?
Autosomal dominant
95
vW Dz S/S?
Mild prolonged bleeding +- trauma - bleeding gums, epistaxis - heavy menses - mucocuaneous bleeding
96
vW Dz Labs?
vWF factor assay - quantity | Ristocetin - assess fx of vWF
97
vW Dz TXT?
Type 1-2 = Desmopressin | Type 3 = vWF Concentrate
98
TXT of hemophilia A?
Desmopressin or Recombinant factor 8
99
TXT of hemophilia B?
Recombinant factor 9
100
HSP falls under what category for bleeding d/o?
Vasculitis
101
MC childhood systemic vasculitis?
HSP
102
Pop of HSP?
MC <6yo (3-15yo)
103
HSP is?
``` Following URI - Inflammation of SML blood vessels w/ - Leukocyte infilitration into tissue - Bleed - Ischemia Due to IgA deposition ```
104
HSP immune complex to blame?
IgA
105
IgA immune complex deposition can lead to?
Glomerulonephritis
106
S/S of HSP?
``` Rash - purpura to ecchymosis Arthralgia/arthritis Cramp abdominal pain (ischemia) Renal involvement Edema of calves, feet, scalp, genitals ```
107
HSP Rash is characterized by?
Palpable purpura below waist (Ass/LE) | Small macules > Urticarial lesion > Purpura > Bruise
108
Location of arthralgia or arthritis w/ HSP pts?
Ankle/Knee (Acute pain and non-WGT bearing)
109
HSP crampy abdominal pain is due to?
HSP
110
HSP renal involvement includes?
Glomerulonephritis > hematuria, HTN, ARF
111
Dx criteris of HSP?
Pediatric cause - <20yo at onset Palpable purpura W/OUT thrombocytopenia Bowel angina Dx Bx - Histology of IgA or granulocytes in walls
112
HSP is involved w/ what GI d/o?
Intussusception
113
How long does HSP last?
3-4wks
114
How long does a HSP rash last?
Wax/Wane for 1yr
115
Eval of HSP?
``` PLT = nl or elevated WBC = elevated ESR/CRP = elevated Renal Fx - UA, BUN/Cr Stool for occult blood - ischemia ```
116
TXT of HSP?
Supportive NSAIDs arthritis Admit if severe
117
Rare but serious progression of HSP?
Renal failure due to IgA deposition
118
Kawasaki's Dz is?
SML to MED arterial inflammation w/ aneurysm formation
119
One key difference between HSP and Kawasaki's Dz?
Kawasaki's Dz is actue febrile illness | HSP is NOT febrile
120
Epidemiology of Kawasaki's Dz?
Japan <5yo (MC - 2-3yo) Feb-May
121
Phases of Kawasaki's?
Acute (1-2w) Subacute (Lasts until 4th wk) Convalescent (6-8w after)
122
Characteristics of Kawasaki's Dz acute phase?
``` High fever >40c Conjunctival erythema Dry cracked lips Strawberry tongue Cervical LAD Scarlatina-like rash <24h after fever onset Hand/foot edema ```
123
Characteristics of Kawasaki's Dz sub-acute phase?
Gradual fever dissipation Skin desquamation High PT count Coronary artery aneurysms
124
Characteristics of Kawasaki's Dz Convalescent phase?
Symptom resolution to NL ESR
125
What risks increase the possibility for coronary artery aneurysm in Kawasaki's Dz?
Prolonged fever HIGH ESR <1yo or >6yo Male
126
Criteria for Kawasaki's Dz?
Fever >5d + 4 or more changes -Bilateral non-suppurative conjunctivitis -Mucus membrane (Red throat/lips, dry lip, strawberry-T -Extremities (Red, Edema, desquamination) -Rash - primarily Trunk -Cervical LAD >1.5cm OR (CAD dx w/ echo/cath + 3 changes)
127
Eval of Kawasaki's Dz?
Blood and Urine Cx - r/o infection WBC, ESR, CRP - elevated PLTs - NL or Low Echo at 2-3w AND 6-8w
128
TXT of Kawasaki's Dz?
IVIG - mainstay (CAD prevention) | ASA - High dose > reduced dose
129
Acute anemia results in?
Tachycardia
130
Anemia of chronic disease is ass/w S/S?
Growth failure or FTT
131
S/S of these suggests? Pallor Jaundice Splenomegaly
Hemolysis
132
S/S of these suggests? | Petechiae/purpura
Deeper bleeding - hemostatic conditions
133
S/S of these suggests? | Hepato-Splenomegaly and LAD
Infiltrative d/o or systemic illness
134
S/S of these suggests? | Anemis + thrombo/pancytopenia =
Congenital anomalies or growth delays
135
Microcytic anemia is due to?
Inadequate Hgb production
136
Microcytic anemia DDx? Mnemonic?
FLATS - Fe deficit anemia (IDA) - Lead poisoning - Anemia of chronic Dz - Thalassemia - Sideroblastic anemia
137
MC cause of anemia in the world?
IDA
138
RFs of IDA?
Breast milk or Too much cows milk or given to early Menses in teenage girls Lead poisoning Socioeconomic
139
TXT IDA w/?
4-6mg/day iron for 3-4mo w/ reeval after 2w. (Hct 1% increase - Hgb increase 0.25g) (4-30d to NL) (Reticulocytosis improves w/in 48-72h)
140
Bottle fed infants require?
Formula w/ iron
141
Breast fed infants require?
>6mo iron supplementation
142
At 6mo an infant should be introduced to?
Iron-enriched solid foods
143
At 1yo a child should be introduced to?
Cows milk and increase solid foods
144
Lead poisoning has a characteristic CBC diff of?
Hypochromic microcytic anemia | - Basophilic stippling
145
Lead poisoning is ass/w what other anemia?
IDA
146
What behavioral is ass/w lead poisoning?
PICA (older home and chipped pain/lead)
147
When should lead levels be investigated?
>20ug/dL w/ single visit OR Persistent 15ug/dL over 3mo period
148
What levels of lead will cause learning issues?
5-10ug/dL
149
TXT of lead poisoning?
Remove exposure Chelation IDA TXT
150
Lead PVT consists of?
Standardized screening questions - ALL ages 6mo -6yo | w/ blood screens at 12 and 24mo
151
Common normocytic anemias types?
TEC - transient erythoblastopenia of childhood | Infectious agents causing pancytopenia
152
TEC - transient erythoblastopenia of childhood is due to?
Low RBC production due to BM suppression from viral infection (HHV/Parvo B19)
153
Characteristics of transient erythoblastopenia of childhood TEC?
Slow onset - 1-2mo in PEDs 1-4yo (MORE SUBACUTE) Asymptomatic and Self limiting Rx - PO CCS if refractory
154
Rx TXT of transient erythoblastopenia of childhood?
PO CCS if refractory case does not self limit
155
MC viral agent causing pancytopenia?
Parvovirus B19
156
Characteristics of Infectious agents causing pancytopenia?
Parvovirus B19 | Severe aplastic crisis lasting 1-2w (MORE ACUTE)
157
TXT of Infectious agents causing pancytopenia?
Supportive +- blood Trxf
158
Clues hemolysis is occurring?
Increased bilirubin Increased free Hgb but Decreased haptoglobin +- Hemaglobinuria +- Hyperkalemia
159
Macrocytic Anemia DDx? and Mnemonic?
``` FAT BC F- Folate deficit A- Alcohol abuse T- Thyroid (Hypo) B- B12 deficit C- Cirrhosis/chronic liver Dz ```
160
W/U for Macrocytic anemia?
Labs - B12, Folate, TFT, LFTs
161
TXT of Macrocytic anemia?
B12/Folate replacement (CBC improves <1wk) | Txt underlying d/o
162
Aplastic anemia causes?
MC - Idiopathic Rx (Felbamate, chloramphenicol Toxins (Benzene) Infections (Mono, Hepatitis)
163
Dx of Aplastic anemia req?
Bone marrow Bx
164
Severe aplastic anemia criteria?
Absolute - Retic <50k and SEGs <500k PLT <20k BM cellularity <25%
165
TXT of aplastic anemia?
Stem cell TrxP | Immunosuppressive therapy
166
Types of Hemoglobinopathies?
Thalassemia | Sickle cell disease
Phase 2 PEDs
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