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Phase 3A Medicine > Paeds Haem > Flashcards

Paeds Haem Flashcards

1
Q

Impaired red cell production causes

A

Red cell aplasia:

  • Parvovirus B19
  • Diamond-Blacfan anaemia
  • Transient erythroblastopenia of childhood
  • RARE: Falcon anaemia, aplastic anaemia, leukaemia

Ineffective erythropoiesis:

  • Iron deficiency
  • Folic acid deficiency
  • Chronic inflammation
  • RARE: lead poisoning, myelodysplasia
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2
Q

Increased red cell destruction causes

A
  • Red cell membrane disorders - Hereditary spherocytosis
  • Red cell enzyme disorders - G6PD
  • Haemoglobinopathies - Thalassaemia/Sickle cell
  • Immune (ONLY IN NEONATES): haemolytic disease of newborn, autoimmune haemolytic anaemia
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3
Q

Blood loss causes

A

Rare in children

  • Feto-maternal bleeding
  • Chronic GI blood loss (e.g. Meckel’s)
  • Inherited bleeding disorders (von Willebrands)
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4
Q

Describe anaemia of prematurity

A
  • Adequate erythropoietin production
  • Reduced red cell lifespan
  • Frequent blood sampling in hospital
  • Iron/Folic acid deficiency (2-3 months)
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5
Q

Fanconi anaemia

A
  • Autosomal recessive
  • Congenital abnorms: short stature, abnormal radii + thumbs, renal malforms, microphthalmia, pigmented skin
  • Tx = bone marrow transplant
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6
Q

Iron deficiency anaemia

Iron comes from…?

A
  • Breast milk - low iron content but 50% absorbed
  • Infant formula
  • Cow’s milk, higher content but 10% absorbed
  • Solids introduced at weaning
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7
Q

Iron deficiency anaemia

Causes

A
  • Inadequate intake - if a delay in into of mixed feeding beyond 6 months/diet with insufficient iron
  • Malabsorption - cows milk intolerance/IBD
  • Blood loss
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8
Q

Iron deficiency anaemia

Presentation

A
  • Fatigue
  • Slower feeding
  • Pallor
  • Pica
  • irritability
  • Poor cognition
  • anorexia
  • tachy, cardiac dilation, murmur
  • If recurrent –> suspect bleeding (Meckel’s/oesophagitis)
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9
Q

Iron deficiency anaemia

Ixs

A
  • MICROCYTIC, hypochromic
  • Low ferritin and serum iron
  • Increased TIBC
  • High ZPP
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10
Q

Iron deficiency anaemia

Tx

A
  • Oral iron therapy –> ferrous fumarate
  • Tx for 3-6 months
  • SE = constipation
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11
Q

G6PD

Patho + Aetiology

A
  • G6PD = rate-limiting enzyme in pentose phosphate pathway –> essential in preventing oxidative stress to red cells
  • oxidant-induced haemolysis
  • X-linked
  • ## Mediterranean, Middle + far east, central Africa
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12
Q

G6PD

presentation

A
  • Neonatal jaundice
  • Intermittent episodes of acute intravascular haemolysis: fever, malaise, dark urine, abdo pain
    (can be triggered by fava bean consumption, fever, acidosis, drugs - aspirin, Abx (nitrofurantoin), antimalarial)
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13
Q

G6PD

Diagnosis

A
  • Between episodes = normal blood picture/no jaundice/no anaemia
  • Measure G6PD activity in red cells AFTER crisis (misleading high numbers during crisis in reticulocytes)
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14
Q

G6PD

Tx

A
  • Parents need to know signs of haemolysis (jaundice/pallor/dark urine)
  • Tranfusions (rarely)
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15
Q

Hereditary spherocytosis

Aetiology + pathophysiology

A
  • 1 in 5000 Caucasians
  • AUTOSOMAL DOM (but in 25% no Fx - new mut)
  • Mutations in genes for proteins of red cells
  • Red cell loses part of the membrane
  • Reduction in surface-to-vol ratio –> spheroidal
  • Less deformable –> destruction in spleen microvasculature
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16
Q

Hereditary spherocytosis

Features

A
  • Asymptomatic
  • Jaundice
  • Anaemia
  • Splenomegaly
  • Aplastic crisis (caused by Parvovirus B19)
  • Gallstones
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17
Q

Hereditary spherocytosis

Diagnosis

A
  • Blood films

- Coombs test - rule out autoimmune disease

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18
Q

Hereditary spherocytosis

Tx

A
  • Folic acid
  • Splenectomy = beneficial (.7yrs due to risk of post-splenectomy sepsis)
  • Blood transfusions
  • Cholecystectomy
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19
Q

Beta-thal

Genetics/chromosome

A

Chromosome 11

autosomal recessive

20
Q

Beta-thal

Pathophysiology

A
  • Dysfunction in production of beta-chains of haem
  • Instead, the alpha-chains bind to delta and game chains –> increased HbA2 (LOADS) and HbF (a little)
  • Free alpha chains also accumulate in red blood cells (Inclusions) –> haemolysis –> increased unconjugated bilirubin and iron plasma levels (jaundice + 2ndry hemochromatosis)
  • Also causes hypoxia –> signal to spleen/bone marrow to make more red cells –> hepatosplenomegaly and skull bossing and chin bone growth (chipmunk facies)
21
Q

Beta-thal

Presentation

A 
Presents in first year of life
Pallor
SOB
Lethargy
Jaundice
Ascites
Hepatosplenomegaly
Growth retardation
FTT
Chipmunk facies
22
Q

Beta-thal

Complications of iron build-up

A
  • Arrhythmias
  • Pericarditis
  • Cirrhosis
  • Hypothyroidism
  • DM
23
Q

Beta-thal

Diagnosis

A
  • XR - hair on end skull appearance
  • Bloods: Low Hb, Low MCV, High RDW
  • Blood smear: Microcrytic hypochromic cells, target cells
  • High serum iron, high ferritin, high transferrin
  • Haemoglobin electrophoresis: Low HbA, Slightly high HbF, Really high HbA2 (> 3.5%)
24
Q

Beta-thal

Tx

A
  • Periodic blood transfusions (though careful of increased iron)
  • SC Iron chelating agents (Deferoxamine)
  • Splenectomy
  • Long term folic acid
  • Bone marrow transplant
25
Q

Alpha-thal

Chromosome/genetics

A
  • Autosomal recessive

- Chromosome 16

26
Q

Alpha-thal

Types and brief patho?

A
  • 3 gene deletion: HbH disease - more affinity to oxygen so tissues get less oxygen, splenomegaly, mod anaemia
  • 4 gene deletion (homozygotes): incompatible with life - Stillborn or die soon after - fetal hydrops/Bart’s hydrops
27
Q

Haemophilia

genetics

A
  • X-linked recessive
28
Q

Haemophilia

Pathophysiology

A
  • Haem A: Deficiency of factor VIII
  • Haem B: Deficiency of factor IX (Christmas disease)
  • Prolonged bleeding
29
Q

Haemophilia

Features

A
  • Haemoarthorses
  • Haematomas
  • Neonates: FHx, cephalohematoma / ICH, iatrogenic bleeding, umbilical cord bleeding
  • Early childhood: <2 yrs once mobile, early bruising/soft tissue haematoma, mouth bleeds, spontaneous muscle/joint bleeds (–> arthritis + deformity)
30
Q

Haemophilia

Blood tests

A
  • Prolonged APTT

- Normal thrombin time, prothrombin time, bleeding time

31
Q

Haemophilia

Tx

A
  • Factor VIII / XI
32
Q

Von Willebrands

Patho

A
  • Abnorm in von Willebrand factor (vWF) = carrier protein for factor VIII
  • can range from undetectable to severe
  • vWF binds to platelets (receptor glycoprotein 1b) and acts as adhesive bridges between platelets and damaged subendothelium at the site of vascular injury
  • Also protects factor VIII from clearance and inactivation
33
Q

Von Willebrands

Type 1

A
  • Autosomal dominant
  • Quantitative disease
  • Mild/asymp
34
Q

Von Willebrands

Type 2A + 2B

A
  • Autosomal dominant

- Mod severity

35
Q

Von Willebrands

Type 3

A
  • Autosomal recessive

- Most severe

36
Q

Von Willebrands

Features

A
  • Bruising
  • Excessive prolonged bleeding after surgery
  • Mucosal bleeding - epistaxis/menorrhagia
37
Q

Von Willebrands

Ix

A
  • Clotting screening
  • APTT increased
  • vWF and Factor VIII variable decreased
38
Q

Von Willebrands

Tx

A
  • Tranexamic acid
  • Type 1 = DESMOPRESSIN (increases vWF/Factor VIII)
  • Most severe - vWF/Factor VIII plasma concentrates
39
Q

Immune/Idiopathic thrombocytopenic purpura (ITP)

Patho

A
  • Destruction of platelets by IgG autoantibodies
  • Usually in young children post-infection
  • 2 - 10 years
  • rarely dangerous but looks dramatic
40
Q

Immune/Idiopathic thrombocytopenic purpura (ITP)

Acute symps

A
  • Petechiae on dependant extremities = main sign
  • Purpura/superficial bruising
  • Epistaxis/mucosal bleeding - profuse bleeding = uncommon
41
Q

Immune/Idiopathic thrombocytopenic purpura (ITP)

Chronic symps

A
  • Platelet count remains low after months

- Associated bleeding, e.g. GI, nose intracranial

42
Q

Immune/Idiopathic thrombocytopenic purpura (ITP)

Ix

A
  • EXCLUSION

- ONLY low platelets

43
Q

Immune/Idiopathic thrombocytopenic purpura (ITP)

Tx

A
  • Most = managed at home
  • Rarely need prednisolone
  • Platelet transfusion
  • AVOID TRAUMA
44
Q

Sickle cell

Patho/genetics/chromosome

A
  • Autosomal recessive
  • Chromosome 11
  • high prev amongst black/afro Caribbean
  • protective against malaria
  • HbS formation due to point mutation (glutamine –> valine)
  • Can not flex through capillaries –> blockages, vessel occlusion, ischaemia
45
Q

Sickle cell

Problems

A
  • Fx- Anaemia
  • Acute anaemia (aplastic crises - Parvoviruse), haemolytic crises (infection), sequestrian crises
  • Infection/sepsis
  • painful crises - vaso-occlusive crises (cold/exercise/dehydration/hypoxoa/acidodis = precipitate)
  • Acute chest syndrome
  • Splenomegaly
  • Priapism
  • Long term:
    o stroke
    o short stature/delayed puberty
    o cardiomeg/HF
    o psychological
    o gallstones
    o renal dysfunc
46
Q

Sickle cell

Tx

A
  • Prophylactic Penicillin
  • Abx for acute infection
  • Folic acid (chronic anaemia)
  • Avoid triggers for vaso-occlusive crises
  • Painful crises: analgesia, hydration, exchange transfusion (acute chest/priapism/stroke), hydroxycarbamide
  • Bone marrow transplant

Phase 3A Medicine (17 decks)

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