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Infection & immunology Chapter 5: Paediatrics 127
https://t.me/med1917
• Pneumonia
Can be severe/fatal if
immunocompromised
Symptomatic treatment
Oral aciclovir if immunocompromised
VZIG to neonates if mother develops
rash 7d before or 7d after birth
• Otitis media
• Bronchopneumonia
• Encephalitis
• Cardiac problems
• Death
NOTIFIABLE DISEASE
Symptomatic treatment
Consider ABX if vulnerable/
immunocompromised
• Sinusitis/mastoiditis
• Meningitis
• Pneumonia
• Septicaemia
• Glomerulonephritis
NOTIFIABLE DISEASE
10d penicillin V or erythromycin
• Rheumatic fever
• Conjunctivitis
• Hepatitis
NOTIFIABLE DISEASE
Supportive care
• Pericarditis
Congenital rubella if
infected in pregnancy
AVOID PREGNANT CONTACTS
If infected in
pregnancy in 1st/2nd
Symptomatic treatment
trimester can lead to
hydrops fetalis
May need blood transfusion if
aplastic crisis
encephalopathy
Children commonly present with a rash. Rashes can be split into 3 broad categories:
1. Possibly worrying e.g. meningococcal petechiae
2. Named rash e.g. HSP, chickenpox, eczema
3. Nondescript viral rash e.g. erythema infectiosum, roseola exanthem
infectious
4–10d Scabs not
• Fever
If fever >4d suspect
Most prominent
trunk & face
bacterial complication
prodromal
symptoms to
4–7d From
cough & red eyes
• Preceding fever,
• Photophobia if older
First face, then
chest & abdomen,
then arms and legs
4d after the
rash onset
• Miserable, looks sick
given,
otherwise
10–21d
5–7d 5d if penicillin
• Fever
• Tonsillitis / sore throat
Starts face &
elbows, then
spreads rapidly to
entire body in 24h
7d after rash
starts
1w before rash
until 4d after
Prodrome 1–5d before rash:
• Mild fever
• URTI
Starts face/neck
then onto trunk and
limbs
• Conjunctivitis
Not infectious
Wax and wane
• Tender LNs
Red cheeks first • Low grade fever
once rash
appears
over 1–2w
• Myalgia/arthralgia
1–2d Spread orally Symptomatic treatment Rarely encephalitis or
• High fever for 3d
• Mild URTI & cough
• Abdominal pain
First trunk, then
arms and neck, very
little on face and
• Diarrhoea
• Eyelid oedema
legs
Childhood exanthems
EXANTHEM: eruptive skin rash associated with systemic symptoms such as a fever
ENANTHEM: eruptive lesion on the mucous membranes
Infection Rash appearance Location Associated features Duration of Sx Infectivity Management Complications
COMMON CHILDHOOD EXANTHEMS
Chickenpox (VZV) Crops of itchy red macules
which become raised, then
blister & crust
Erythematous maculopapular
rash (pink then red macules)
• Oral ‘Koplik’s spots’
Measles/rubeola
(paramyxovirus)
(feels like sandpaper)
• Fine papular rash
Scarlet fever
(streptococcus)
• Strawberry red tongue
• Perioral pallor
• Pink macular rash
• Forchheimer spots
Rubella / German
measles (rubella virus)
(pinpoint red petechiae on
the soft palate)
appearance
• Maculopapular rash on trunk
infectiosum / fifth
disease (parvovirus B19)
& limbs 1–4d after red cheeks
• Slapped cheek
Erythema
Discrete, blanching,
red macules & papules
→ Surrounded by ‘halos’
(rash appears as fever fades)
Roseola infantum /
exanthema subitum
(herpes virus 6 or 7)
papules on soft palate)
• Nagayama’s spots (red
128 Chapter 5: Paediatrics Infection & immunology
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if bilateral)
• Epididymo-orchitis (can cause infertility
• Aseptic meningitis
• Transient hearing loss
• Pancreatitis
• CNS disorders e.g. transverse myelitis
• Acute bronchitis
• Pneumonia
• Asthma exacerbation
• Otitis media
• Sinusitis
→ Cervical cancer = complication
PREVENT TRANSMISSION VIA
VACCINATION PROGRAMME:
boys & girls 12–13y
rinse mouth after)
1. Leave nappy off as much as possible & keep dry
2. Topical emollients + barrier creams
Oral hygiene advice (if using inhaled steroid for asthma advise
3. Topical antifungals (nystatin, clotrimazole)
1.
2. Topical antifungals (miconazole oral gel, nystatin suspension)
NOTIFIABLE DISEASE
Symptomatic treatment
No need for ABX
Warm/cold packs to swollen parotid glands
Off school/work for 5d from
development of parotitis
7–14d 2d before to 9d after symptoms
Symptomatic treatment
after symptoms develop
3–7d From 1d before, and up to 10day
Only consider antivirals if high risk
(immunocompromised, chronic heart/
lung/kidney disease, <6m OR admitted to
hospital)
May not need treatment of warts
Transmission via skin-to-
Virus and symptoms
Topical cream e.g. podophyllotoxin
Physical ablation: excision, cryotherapy
skin contact during:
• sexual intercourse
• vaginal childbirth
may persist >1y
of the body / other people
7d Spreads via direct contact to other areas
to mother’s nipples so treat mother’s
nipples as well
7d Can be transmitted when breastfeeding
Bilateral parotid gland swelling
+ fever, headache, malaise, myalgia, anorexia
Children commonly asymptomatic
Infection Symptoms Duration of Sx Infectivity Management Complications
Mumps
OTHER CHILDHOOD VIRAL ILLNESS
(paramyxovirus)
Red plaques, satellite papules, superficial pustules
± itching, soreness
Occurs in skin creases / areas of irritant dermatitis
White spots in mouth & on tongue which can progress to
yellow/grey oral plaques
± soreness of the mouth
Coryza, nasal discharge, cough, sore throat,
headache, fever, malaise, arthralgia, myalgia
Flu (influenza A,
B, C)
• Warts: around genitals, on skin
• Juvenile recurrent respiratory papillomatosis
HPV (human
papilloma virus)
CHILDHOOD FUNGAL INFECTION
Infection Symptoms Duration of Sx Infectivity Management
Nappy rash
(Candida albicans)
Oral thrush
(Candida albicans)
Infection & immunology Chapter 5: Paediatrics 129
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Kawasaki disease
→ systemic small-to-medium vessel vasculitis (due to immune hyperactivity)
↳ Rare disorder but important to diagnose as potentially fatal complication of
CORONARY ANEURYSMS
SYMPTOMS (see Fig. 5.22)
Fever ≥38°C for >5d PLUS 4 of:
• Rash (C)
• Cervical lymphadenopathy
• Non-purulent conjunctivitis (E)
• Red mucous membranes
• Red/swollen/peeling skin (A, B)
▶ cracked lips
▶ ‘strawberry tongue’ (D)
INVESTIGATIONS
• History & examination
• CRP, ESR, WCC, platelets
• ECHO – shows coronary
Important
aneurysms
MANAGEMENT19: + supportive (antipyrexials)
• IV Ig within first 10d – reduces risk of aneurysms
• Aspirin – high dose until fever subsides then low dose for 6w
risk thrombosis
• Long-term warfarin – if giant coronary aneurysms
• Monoclonal antibodies (infliximab), steroids, ciclosporin – if recurrence
NB Infants may not present with all symptoms so
must maintain high suspicion if prolonged fever
Risk factors for Kawasaki disease
• 6m–4y
• Asian or Afro-Caribbean
• Covid-19
Infectious mononucleosis (glandular fever)
→ syndrome of symptoms mainly caused by host response to EBV
SYMPTOMS
• Fever, malaise
• Cannot eat/drink
↱
• Breathing may be compromised
• Tonsillopharyngitis = very sore throat
• Cervical lymphadenopathy
OTHER SX
• Hepatosplenomegaly/jaundice
• Petechiae on soft palate
• Maculopapular rash (if <4y)
INVESTIGATIONS
• Blood film: atypical lymphocytes
• Monospot test: heterophile antibodies → may be negative in young children
• EBV antibodies: IgM & IgG
MANAGEMENT
1. Symptomatic relief – self-resolves in 1–3m
2. Corticosteroids – if airway compromise
3. ABX – only if confirmed tonsillitis (5% cases)
HIV/AIDS
→ affects >2 million children (mainly in sub-Saharan Africa)
CAUSE: majority by transmission from mother (transplacental, at birth,
breastfeeding)
PRESENTATION: opportunistic infections – bacterial, candida, diarrhoea, PCP
LONGER-TERM PROBLEMS: failure to thrive, encephalopathy, malignancy
Fig. 5.22
Safety-net for glandular fever:
• Avoid close contact with others
• No contact sport
• No alcohol
as
Diagnosis of HIV
>18m: HIV Abs/antigen
<18m: HIV DNA PCR
All babies of HIV +ve mother need testing
after ≥2w of ART to ensure not infected
19
Eleftheriou D, Levin M, Shingadia D, et al. (2014) Management of Kawasaki disease. Arch Dis Child,
99:74–83
130 Chapter 5: Paediatrics Infection & immunology
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MANAGEMENT
1. Anti-retroviral therapy (ART) – started based on clinical status, viral load,
CD4 count → infants start ART ASAP
2. Infection prophylaxis – co-trimoxazole (for PCP)
3. Vaccinations – flu, Hep A/B, VZV
4. Regular follow-up – monitor weight, neurodevelopment, signs of infection,
adherence to Tx
Malaria
→ 700,000 child deaths in Africa every year
CAUSE: Plasmodium falciparum parasite → transmitted by female Anopheles
mosquito
Suspect immunodeficiency in children with:
Severe Prolonged Unusual or Recurrent infections
(SPUR)
SYMPTOMS: 7–10d post-infection
• Fever, malaise, myalgia
• V & D, abdo pain
• Jaundice
• Anaemia → children very susceptible
• Thrombocytopenia
DIAGNOSIS: thick blood film
MANAGEMENT: quinine
PREVENTION: nets, insect repellents,
ABX prophylaxis
Typhoid
CAUSE: Salmonella typhi or
paratyphi parasite
SYMPTOMS:
• Worsening fever
• Headaches, malaise, myalgia
• Cough
• Abdo pain
• Anorexia, diarrhoea, constipation
7–10d post-infection
SIGNS
• Rose-coloured spots on trunk
• Splenomegaly
• Bradycardia
MANAGEMENT
Azithromycin or ceftriaxone
(3rd gen. cephalosporin)
COMPLICATIONS
• GI perforation
• Myocarditis
• Hepatitis, nephritis
Immunodeficiency
PRIMARY: intrinsic defect of the immune system = often X-linked or
autosomal recessive
Examples
• T-cell defects: DiGeorge, SCID,
Duncan syndrome
• B-cell defects:
agammaglobulinaemia, hyper
IgMsyndrome
• Neutrophil defects: chronic
granulomatous disease
• Leukocyte defects: leukocyte
adhesion deficiency
Investigations
• FBC (including WCC breakdown)
• Immunoglobulins
• Complement proteins
• Specific genetic/molecular tests
School exclusion following infection
• Meningitis – until
recovered
• Measles – 4d from
rash onset
• Mumps – 5d from
swollen gland onset
• Scarlet fever – 24h
after ABX
• Impetigo – 48h
after ABX
• Scabies – after
treatment
SECONDARY: due to another disease or treatment = more common
Examples
• Concurrent bacterial/viral illness
• HIV
• Malignancy
• Malnutrition
• Immunosuppressive therapy
• Splenectomy
• Nephrotic syndrome
Management options
• Antimicrobial prophylaxis
• Prompt treatment of infection (with
prolonged ABX course)
• Ig replacement therapy
• Bone marrow transplant
• Gene therapy (for SCID)
Infection & immunology Chapter 5: Paediatrics 131
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Allergies/atopies
→ 40% UK children have allergic rhinitis, eczema or asthma → can be fatal
Cause: genetic susceptibility (FHx) PLUS environmental triggers
Pathophysiology: most are IgE-mediated
1. Early phase (immediate): mast cells & histamine → urticaria, angioedema,
sneezing, bronchospasm
2. Late phase (4–6h): nasal congestion, bronchospasm, cough
FOOD ALLERGY → 6% children (many have other atopies)
Triggers
• Infants: milk, egg, peanut
• Older children: peanut, tree nut, fish, shellfish
Symptoms
• IgE-mediated: urticaria/oedema 10–15min after ingestion → severe = wheeze,
stridor, abdo pain, shock, collapse
• Non-IgE-mediated (type IV delayed hypersensitivity): D&V, abdo pain,
failure to thrive (‘intolerances’)
Investigations
• History & examination
• Total & specific IgE antibodies
• Skin-prick test
• Exclusion of food (+ careful reintroduction – ‘food challenge’)
Management
1. Avoid foods
2. Mild reaction: antihistamines
3. Severe: IM adrenaline (EpiPen) ‘Allergy Action Plan’
e.g. dust mites / pollen / pet hair / mould, food items,
insect stings, drugs, latex
NB
Secondary food allergies
childhood: due to similar proteins between plant
pollen and fruit/veg plants
may develop later in
= ‘pollen-fruit syndrome’
ALLERGIC RHINITIS & CONJUNCTIVITIS → 20% children
Types
• Seasonal (hayfever): related to grass/tree pollen
• Perennial: related to dust mites, pets, etc.
Symptoms
Sneezing, itchy eyes, runny nose
± cough, disturbed sleep, impaired concentration
Management
20
• Non-pharmacological: allergen avoidance advice, nasal irrigation with saline
• Pharmacological 1st-line
▶ Non-sedating oral/intranasal antihistamines
▶ Topical nasal/eye corticosteroids
▶ Cromoglycate eye drops
• Pharmacological 2nd-line
▶ Nasal decongestants (max 7–10d at a time as rebound effect)
▶ Leukotriene receptor antagonists
Tolerance means Sx get worse
URTICARIA/ANGIOEDEMA
Acute (<6w): usually food allergy, drug reactions, infection
Chronic (>6w): usually non-allergic
Other causes: cold, heat, water, sunlight, sweating
Management: non-sedating antihistamines
ECZEMA → see Chapter 7
20
NICE (2022) Management scenario: Allergic rhinitis
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Haematology
Haematological changes at birth
HbF: 2α + 2γ → higher O2 affinity
HbA: 2α + 2β → lower O2 affinity
So O2 transfers from maternal Hb to fetal Hb
DDx macrocytic anaemia: ‘BCDEF’
• B12 deficiency
• Compensatory reticulocytosis (blood loss)
• Drugs (cytotoxic)
• Endocrine (hypothyroidism)
• Folate deficiency
DDx microcytic anaemia: ‘TAILS’
• Thalassaemia (α- or β-thalassaemia trait)
• Anaemia of chronic disease e.g. renal failure
• Iron-deficiency anaemia
• Lead poisoning
• Sideroblastic anaemia
• Haemopoiesis switches from occurring in the liver → bone marrow
• Fetal Hb (HbF) is replaced so by 1y it is almost all adult Hb (HbA) →
persistent high HbF suggests haemoglobinopathy
• Hb levels are high in newborns & drop over first few weeks
Anaemia
→ Hb below the normal range for age
↳ Neonate: <14g/dl
↳ 1–12m: <10g/dl
↳ 1–12y: <11g/dl
CAUSES
1. RBC production ( EPO
synthesis or RBC aplasia) e.g. IDA
2. RBC destruction e.g. SCD,
thalassaemias, G6PD deficiency
3. Blood loss (rare in children)
e.g. vWD, Meckel diverticulum
SYMPTOMS: if Hb <6–7g/dl
• Fatigue/weakness
• Pallor (conjunctiva & tongue)
• SOB/tachycardia
• Slow feeding / eating soil or chalk (pica)
INVESTIGATIONS
• FBC – MCV (size of RBC) & MHC (Hb per RBC)
• Iron studies – serum iron & ferritin, TIBC
• Blood film – size, shape, colour
• Serum bilirubin – raised BR suggests haemolysis
• Hb high performance liquid chromatography OR Hb electrophoresis
▶ shows amount of each Hb type (HbS, HbA, HbF)
Age Hb
(g/dl)
Birth 14.5–21.5 10.0–26.0
2w 13.5–20.0 6.0–21.0
2m 9.5–13.0 6.0–18.0
1y 11.0–14.0 6.0–17.5
6y 11.5–13.5 5.0–17.0
6–12y 11.5–15.5 4.5–14.5
>12y (♀) 11.5–15.5 4.5–13.0
>12y (♂) 13.5–17.5 4.5–13.0
WCC
(×109/L)
PICA = consumption of
non-nutritional substances
Platelets
(×109/L)
150–450
High-iron foods
• red meat, liver
• pulses, beans, peas
• leafy, green veg
• oily fish
• fortified cereals
• dried fruit/nuts
* Vit C (fruit & veg) helps Fe absorption
Foods to avoid
• Excess cow’s milk (only 10% Fe is absorbed)
Full-term babies have iron stores sufficient to
meet their needs until 4–6m, after which they
depend on diet.
Premature infants have insufficient stores →
infants <33weeks should receive iron from
4w of age.
Anaemia from reduced RBC production
↱ Due to high iron requirement of growth
IRONDEFICIENCY ANAEMIA = #1 anaemia cause in children → risk
intellectual & behaviour difficulties if untreated
Causes
→ Inadequate intake – if breastfeeding remains main nutritional source after
12m, iron-deficient diet
→ Malabsorption – coeliac
→ Blood loss
Diagnosis
• FBC: MCV & MHC = microcytic, hypochromic
• Iron studies: serum iron & serum ferritin
• Blood film: abnormally shaped, small, pale RBCs
Management
• Dietary advice
• Oral iron supplements e.g. Sytron/Niferex
→ Continue until Hb normal PLUS 3m
21
Paediatric BNF – Anaemia, Iron deciency
22
Journal of Paediatrics and Child Health (2007) Policy statement on iron deciency in pre-school-
aged children
21,22
Breast milk: low Fe, 50% absorption
Cow’s milk: low Fe, 10% absorption
Formula: high Fe, 10% absorption
NB If no response to Tx
consider Ix for other causes
(esp. malabsorption)
Haematology Chapter 5: Paediatrics 133
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B12 & FOLATE DEFICIENCY = rare in paediatrics
Causes
→ Low dietary intake
→ Malabsorption – e.g. Crohn’s ( B12 absorbed from ileum)
→ Low intrinsic factor – e.g. pernicious anaemia (B12 needs to bind intrinsic
factor to be absorbed in the stomach)
Diagnosis
B12
→
= eggs, fortified
cereals, dairy
Folate
= broccoli, peas,
brown rice
B12 = coenzyme needed for folate conversion
Folate = needed for RBC synthesis
• FBC: MCV = macrocytic
• Iron & B12 studies: serum
folate, cobalamin (B12)
• Blood film
Management
• Dietary advice
• B12 & folic acid
replacement
APLASTIC ANAEMIA = failure of blood cell synthesis
Causes
→ Idiopathic
→ Transient erythroblastopenia = triggered by viral infection
→ Parvovirus B19 – can cause severe RBC aplasia in children with inherited
haemolytic anaemia
→ Inherited bone marrow failure syndromes e.g. Diamond–Blackfan anaemia,
Fanconi anaemia
Diagnosis of aplastic anaemia
• Hb, MCV
• reticulocytes
• Normal bilirubin
• Coombs test –ve
Haemolytic anaemias (increased RBC destruction)
↳ Clinical features
• Anaemia
• Hepatosplenomegaly
• Jaundice
Summary of causes of haemolytic anaemias
Intrinsic Extrinsic
• RBC membrane abnormality (hereditary
spherocytosis)
• Enzyme defects (G6PD deficiency)
• Hb abnormality (thalassaemias, SCD)
THALASSAEMIAS = autosomal recessive disorders of α- or β-globin production
causing HbA
Βeta-THALASSAEMIA
→ β-thalassaemia major: both genes abnormal = no HbA = very severe anaemia
→ β-thalassaemia minor: 1 gene abnormal = almost normal Hb with marked low
MCV (60s)
Clinical features (β-thalassaemia major)
• Severe anaemia from 3–6m (when HbF runs out) → transfusion dependent
• Jaundice & pallor
• Hepatosplenomegaly if untreated
• Characteristic facies (frontal bossing) if untreated
Management
• Lifelong monthly blood transfusions
• Iron chelation (prevent Fe overload of heart & liver from transfusions)
• Bone marrow transplant = only cure
↳ Investigations
• FBC: Hb
• Blood film: reticulocytes → lilac
colour, abnormal shape
• Bilirubin: unconjugated BR &
urinary urobilinogen
• Lactate dehydrogenase: LDH
• Autoimmune
• Infection (malaria, CMV, EBV, E. coli, strep)
• Drugs (nitrofurantoin, penicillin)
• Burns
There are 2 beta-globin genes, 1 for each chain
Further Ix
• Direct Coombs test
• Hb electrophoresis
RFs for thalassaemias: Indian, Mediterranean,
Middle Eastern
Prognosis (major): 90% live >40y if
Tx-compliant
Complications of long-term transfusion
1. Fe deposition
• Heart = cardiomyopathy
• Liver = cirrhosis
• Pancreas = diabetes
• Skin = hyperpigmentation
2. Antibody formation (in 10%)
3. Venous access problems – may need CVC
4. Infection (HIV, hepatitis, etc.)
134 Chapter 5: Paediatrics Haematology
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RF: South-East Asian
Fig. 5.23 Target cells & pale hypochromic cells.
RF: Black, Afro-Caribbean
Long-term problems
• Short stature / delayed puberty
• Stroke & neuro damage
• Heart failure & renal dysfunction
• Pigment gallstones
• Fe overload
Prognosis: most severe form = 50% die by 40y
from complications
Αlpha-THALASSAEMIA
→ Deletion of all 4 α-globin genes: α-thalassaemia major/Hb Barts hydrops
fetalis = death in utero
→ Deletion of 3 α-globin genes: HbH disease = mild/moderate anaemia
→ may need transfusions
→ Deletion of 1–2 α-globin genes: α-thalassaemia trait = asymptomatic
→ marked low MCV
INVESTIGATING
THALASSAEMIAS:
1. FBC & iron studies –
microcytic, hypochromic
anaemia
2. Blood film: ‘target cells’ or
nucleated RBCs
3. Hb HPLC – proportions of
HbA, HbF, HbA
2
There are 4 alpha-globin genes, 2 for each chain
HbA HbA2* HbF HbS
β-thalassaemia major X
β-thalassaemia minor
α-thalassaemia Normal
Sickle cell disease X
Sickle cell trait
*HbA2 = normal variant of Hb with levels higher than normal in
thalassaemias
X
X
Sickle cell disease
→ COMMON GENETIC DISORDER IN CHILDREN → 1 in 2000 → autosomal recessive
CAUSE: mutation in β-globin gene which produces an abnormal HbS chain*
rather than HbA
PATHOGENESIS: sickle-shaped RBCs have lifespan → get stuck &
occlude vessels causing infarction
Type Hb Symptomatic?
Sickle cell anaemia (HbSS) Homozygous for abnormal HbS Yes (no HbA)
HbSC disease (HbSC) 1 HbS gene + 1 abnormal HbC Yes (less severe than SCA)
Sickle β-thalassaemia (HbSA) 1 HbS + β-thalassaemia trait Yes
Sickle cell trait (HbSA) 1 HbS gene + 1 normal HbA
CLINICAL PRESENTATION OF HBSS
• Moderate anaemia: (6–10g/dl)
• Jaundice (clinically detectable)
• Infection ( susceptibility especially pneumococcus & H.influenzae)
• Splenomegaly – due to acute sequestration
(children only)
• Painful vaso-occlusive crises
▶ hands & feet – dactylitis & swelling
▶ bones of limbs – avascular necrosis of femoral head
▶ lungs – acute chest syndrome = EMERGENCY (CPAP + exchange
transfusion)
▶ penis – priapism
• Acute anaemia (aplastic crisis): sudden Hb ± abdo pain ±
hepatosplenomegaly
→ Triggers: infection, accumulation of sickle cells in spleen, parvovirus
*If low O2, infection or acidosis it polymerises
No (some HbA → carrier)
due to hyposplenism
from chronic infarction
Haematology Chapter 5: Paediatrics 135
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↳
DIAGNOSIS
NB Asymptomatic for 6–8w after
birth due to persistent HbF
• Screening: pregnant women & neonates (Guthrie heel-prick test)
• FBC & iron studies = Hb, low MCV, normal Fe
• Blood film = sickle cells & target cells
• LFTs & bilirubin = raised
• Hb HPLC = HbS & ± HbA → diagnostic
MANAGEMENT
23,24
1. Infection prophylaxis: vaccines + daily PO penicillin lifelong (for
hyposplenism)
2. Daily folate supplementation (lifelong)
3. risk VO crises: dress warmly, stay hydrated, avoid excessive exercise/stress
4. Treat VO crises: PO/IV analgesia (morphine + ABX/O2 if need)
5. Hydroxycarbamide to HbF: if recurrent VO crises / acute chest
6. Blood transfusion: if acute complication (stroke, sepsis, aplastic crisis)
& pre-operatively
7. Bone marrow transplant: only cure (for very severe cases)
8. New treatments: crizanlizumab
→ antibody binds p-selectin and stops RBCs sticking to endothelium
Mx of vaso-occlusive crises
25
1. ABCDE – IV fluids, O2 only if sats <93%
2. Analgesia*: IV/SC morphine AND paracetamol/ibuprofen (co-prescribe laxatives &
anti-emetics)
3. FBC, reticulocytes, infection screen
4. X-match & transfusion
5. Enoxaparin
Bleeding disorders
Fig. 5.24 Sickle cells & target cells.
Triggers of vaso-occlusive crises: cold,
infection, dehydration, hypoxia/altitude, drugs
*Most patients have a ‘pain plan’
DIAGNOSTIC APPROACH
1. History
• Age of onset
• Bleeding Hx/pattern
▶ bleeds with previous surgery/dental work suggest inherited
▶ mucous membranes: platelet disorder/vWD
▶ haemarthrosis: haemophilia
• Drug Hx
▶ anticoagulants
2. Investigations
• FBC & blood film
• PT (2, 5, 7, 10), APTT (2, 5, 8, 9, 10, 11, 12)
• Thrombin time – fibrinogen deficiency/dysfunction
• Mixing studies – determine if factor deficient or inhibitor present
• d-dimers
23
BSH (2018) Guidelines for the use of hydroxycarbamide in children and adults with sickle cell disease
24
BSH (2016) Guidelines for transfusion in sickle cell disease part I & II
25
NICE (2012) Sickle cell disease: managing acute painful episodes in hospital [CG143]
136 Chapter 5: Paediatrics Haematology
Contact activation (intrinsic) pathway
auma
fibrin clot
https://t.me/med1917
Damaged
surface
Tissue factor
(extrinsic) pathway
XII
XIIa
Trauma
Haemophilia A: factor VIII deficiency
(1 in 5000)
Haemophilia B (Christmas disease):
factor IX deficiency (1 in 30,000)
Severity based on amount of clotting factor:
Mild: >5%
Mod: 1–5%
Severe: <1%
risk of hyponatraemia
XI
XIa
IX IXa VIIa VII
X
Prothrombin
Common
pathway
VIIIa
(II)
Fibrinogen
Xa
Va
Thrombin
(IIa)
(I)
Tissue factor
X
Fibrin
(Ia)
Cross-linked
Tr
XIIIa
Fig. 5.25 Coagulation pathway.
INHERITED BLEEDING DISORDERS
1. HAEMOPHILIAS = X-linked recessive coagulation disorders
Clinical features
Mild: bleed after surgery
Moderate: bleed after minor trauma
Severe: ICH, spontaneous joint/muscle
bleeds (haemarthrosis)
Investigations
• FBC, blood film, LFTs
• Coagulation screen: APTT & normal bleed time
• Clotting factor assays: low factor VIII or IX
Management: → Avoid NSAIDs & IM injections
• For any acute bleeds:
→ Elevation, compression & tranexamic acid
→ IV recombinant factor VIII/IX → given ASAP (parents taught how to
administer at home)
• For mild disease: desmopressin (DDAVP) = antidiuretic that causes secretion
of factor VIII & vWF into plasma
• For severe disease or before major surgery: regular prophylactic IV factor
A new monoclonal antibody Tx now available that is longer-acting: binds factor IXa and factor X
→ mimics activity of factor VIII
↱ Nearly always males
→ Most present in first 18m
→ Commonly present when start to crawl/walk
complication = arthritis
Functions of vWF:
• facilitates platelet adhesion
• carrier protein for factor VIII preventing its
degradation
2. VON WILLEBRAND DISEASE (vWD) = auto dominant deficiency/defect in von
Willebrand factor (vWF)
Clinical features
vWD = most common inherited bleeding disorder
• Bruising
• Prolonged bleeding
• Mucosal bleeding – epistaxis, menorrhagia
Diagnosis: mild APTT, normal platelets & INR → PROLONGED BLEED TIME
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