Haematology Flashcards
How is haemophilia inherited
X-linked recessive
Blood findings of haemophilia
Prolonged APTT
PT, bleeding time, thrombin time all normal`
Low of respective factors
If a female has haemophilia what do they likely have
Turners
What must be avoided in haemophilia
NSAIDS and aspirin
What advice should be given to parents with haemophilia
Present ASAO to hospital if slight trauma
4 complications of haemophilia
Chronic arhtropathy
Compartment syndrome
Haematuria
HBV infection related to transfusion
Male versus female with reduced factor 8
Male- haemophilia A
Female- vWD
Traetment of haemophilia chronically
Done at haemophilia centre- MDT approach
Mild to moderate haemophilia A- desmopressin
Severe- prophylactic factor replacement
Why is desmopressin used to treat haemophilia A
Stimulates F8 and VWF release
Treatment of acute haemophilia
IV infusion of respective factor
Minor bleeds- raise to 30 % of normal
Major- raise to 100% and maintain at 30% for 2 weeks to prevent haemorrhage
How is haemophilia graded
Mild will bleed after surgery (>5% of factor)
Moderate will bleed after minor trauma (1-5% of factor)
Severe will bleed spontaneously (<1% of factor)
What is cows milk protein allergy
An allergic reaction to cows milk protein in formula fed milk but can occur in breatfed if protein present in mothers milk
How can IgE mediated allergy present
Urticaria
Facial swelling
Nausea
D&V
Itching
Sneezing
Rhinorrhoea
How can non-IgE mediated food allergy present
Erythema
Atopic eczema
GORD
Change in frequency of stools
Aversion of food
Infantile colic
Investigations for cows milk allergy and food allergy
Allergy focussed history- avoidance etc, have they trialled re-introducing allergen
Test 1- skin prick test
Test 2- total IgE or specific IgE (RAST)
What is RAST
Another term for allergen specific IgE
Management of Cows milk allergy
- Avoid trigger
If formula fed use hypoallergenic formula
If breast fed exclude from diet (takes2-3 weeks tho)
Can give calcium and vit D supplements - must regularly monitor growth
- Reintroduce in 6-12 months using Milk Ladder
Difference in formula given to formula fed babies CMPA
Mild and moderate- hydrolysed
Severe- amino acid based formula
What can be given in CMPA to breast fed children
Give mum calcium and vit d supplements
What is immune thrombocytopenia
Immune mediated disease against glycoprotein IIb/IIIa or Ib-V-IX-complex
How does ITP present in children
Recent infection/vaccine
Brusing
Petechial/purpuric rash
Rarely epistaxis or gingival bleeding
Investigations for ITP
FBC- isolated thrombocytopenia
Blood film
Bone marrow examination if lymph node enlargement, splenomegaly, failure to respond to treatment
Management of ITP
Mainly benign and self limiting- resolves in 6-8 weeks
Treat only if major bleeding or persistent minor bleeding
Managment of ITP if major bleeding
IVIG
Corticosteroids
Anti-Rhd
Plt transfusion if life threating
Traetment for chronic ITP 1st line and second
Mycophenolate motefil
Rituximab
Eltrombopag
Second- splenectomy
What is eltrombopag
A thrombopoietin agonist
What is strawberry tongue seen in
Scarlet fever
Presentation of scarlet fever
Tonsilitis
Fever
Malaise
Maculopapular rash
What is rash like in scarlet fever
fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the palms and soles
Has rough sandpaper texture
Spares feet and hands
Treatment for scarlet fever
Oral penicillin V for 10 days
Azithromycin if penicillin allergic
Can go back to school 24 hours after infection
Notifiable disease
Most common complication of scarlet fever and other ones
Otitis media
Rheumatic fever
Acute glomerulonephritis
Invasive complications- bacteraemia, meningitis, necrotising fasciitis
What are the different types of alpha thalassaemia and outcomes
Major with 4 alpha globulin missing- hydrops fetalis
HbH disease with 3 missing- mild/moderate anaemia with occasional transfusion
Alpha thalassaemia with 1 or 2 deleted- asymptomatic with mild/no anaemia
How does HbH disease present
Hypochromic and microcytic anameia with splenomegaly
What is thelarche
First stage of breast development
What is adrenarche
First stage of pubic development
How is precocious defined
The development of secondary sexual characteristics before 8 years in females and 9 years in males
Much more common in females
How is precocious puberty classified
Gonadotrophin dependent (central or true)- premature activation of hypothalamic-pituitary-gonadal axis. FSH and LH high
Gonadotrophin independent (pseudo, false)- due to excess sex hormones. FSH and LH low
How to determine cause of precocious puberty from testes
Bilaterally enlarged- gonadotrophin dependent
Unilaterally enlarged- gonadal tumour
Small- adrenal cause
Faractures associated with non-accidental injury
Metaphyseal
Posterior rib
Fractures at different stages of healing
What is a bucket handle fracture
Fracture of the metaphyseal corner in tibia
Seen in NAI
Risk factors for rickets
Dietary feeding of calcium
Prolonged breastfeeding
Lack of sunlight
Unsupplemented cows milk formula
Presentation of rickets
Aching bones and joints
Waddling gait
Kyphoscoliosis
Forehead bossing
What is kyphoscoliosis
Deviation of the spine laterally (scoliosis) and anteriorly (kyphosis)
Joint findings of rickets
Widening of joints
Rickety rosary- bony prominences at costochondral joint
Examination findings of rickets
Harrison sulcus- protrusion of lower ribs anteriorly
Forehead bossing
Bowed legs
Kyphoscoliosis
Genu varum versus genu valgum
Genu varum is bowed legs and seen in toddlers
Genu valgum is knock knees seen in older children
What would cause a prolonged PT in ALL
DIC
Presentation of kawasakis
Can present with anything but typically FEVERand CRASH
C- conjunctival injection
R- polymorphous rash
A- lymphAdenopathy
S- strawberry tongue
E-dema of hands and feet which can peel
What is main complication of kawasakis
Coronary artery aneurysms
Investigations and diagnosis of kawasakis
Mainly a clinical diagnosis but
FBC- high WCC
CRP and ESR
ECG and echo
Treatment of kawasakis
High-dose aspirin and IVIG
What is a white coloured nodule at the roof of the mouth
Epsteins pearl
What is measles
RNA paramyxovirus
How does measles present
Prodromal phase of fever, ill and conjunctivitis
Koplik spots in mouth which are white pots
Then get a maculopapular rash- starts behind the ears and spreads to whole body
Can peel but spares the hands and feet
How to manage measles
Largely supportive with pain relief and lots of fluids
Stay away from school until 4 days after development of the rash
Inform that needs to go to hospital if develop SOB or neuro symptoms
Admit to hospital if immunocompromised, pregnant or an infant
What is the most common complication of measles
Otitis media
Main complications of measles
Otitis media
Pneumonia
Encephalitis
Subacute sclerosing panencephalitis
When are stages children get vaccines
Birth (sometimes)
2 months
3 months
4 months
1 year
3 years
12-13
13-18
What vaccine is given at birth
BcG sometimes
- born in areas of uk where high rate (40 in 1000)
- parent or grandparent born in country where (40 in 1000)
- live with or close contact of someone with infectious TB
Vaccinations done at 2 months
6 in 1
Oral rotavirus
Men B
Vaccinations done at 3 months
6 in 1
Oral rotavirus
PCV
Vaccinations done at 4 months
6 in 1
Men B
Vaccinations done at 1 year
Hib/Men C
PCV
Men B
MMR
Vaccinations done at 3 years and 4 months
4 in 1- diptheria, tetanus, pertussis, polio
MMR
What is given annually to children between 2 and 10
In september give Live flu vaccine
What should be given in 12-13 years
HPV
What is given at age 14
Tetanus, diptheria, polio
Men ACWY
What is in the 6 in 1 vaccine
Parents- polio
Will- whooping cough
Immunise- influenza (Hib)
Toddlers- tetanus
Because- Hep B
Death- diphteria
What vaccine is being given to those starting uni or aged 25 or under who never had it
Men ACWY
What is hereditary angioedema
Condition where get recurrent bouts of subcut and submucosa
Caused by deficiency in C1-esterase inhibitor
Autosomal dominant
What is treatment for hereditary angioedema
C1-esterase inhibitor like Cinryze
Things like steroids and antihistamines have no effect
What causes traumatic bruises
Excessive coughing/vomiting
Get them around the face and neck
Pathophysiology and inheritance of G6PD
X linked
Cells become sensitive to haemolysis in response to triggers including infection, certain drugs and flava beans
Presentation of G6PD
Neonatal jaundice
Haemolysis after infection or new drugs
Dark urine and malaise
Cause of HUS
E coli O157
Presentation of HUS
Prodrome of fever, abdo pain and diarrhoea
Triad
- MAHA leading to pallor
- thrombocytopenia
- acute renal failure
Presentation of TTP
MAHA
Thrombocytopenia
Acute renal failure
Fever
Neurological symptoms
What is risk with influenza vaccine
If allergic to egg allergy
What done if egg allergy and need the flu vaccine
If small allergy like HIVES do in Primary care
If anaphylaxis consider requirement
Complications of SCD
Avascular necrosis in bones
Stroke
MI
Splenic sequestration
Chronic cholecystisis and gall stones
What happens in splenic sequestration and long term consequences
Infarct in spleen leads to back up of blood->anaemia
Long term get auto-splenectomy as fibroses to become very small
What are sickle cell crises
Get vaso occlusive crises due to acidosis, hypoxia or dehydration
What are acute chest syndromes in children with SCD
Occlusion of pulmonary vessels results in build up of deoxygenated blood which sets up negative feedback loop as pulnomary arteries constrict in hypoxia
Management of acute SCD crises
Analgesia
Oxygen
IV fluids
What is given to SCD patients with recurrent admissions
Hydroxycarbamide/hydroxyurea
Classify complications of SCD
Chronic haemolysis- anaemia, splenomegaly, chronic gallstones, aplastic crises
Vaso-occlusive crises- dactylitis, acute chest syndrome, priapism, stroke, splenic sequestration
Infection- susceptible to encapsulated bacteria
Long term problems - short stature, delayed puberty, HF
What prophylactice antibiotics can be given in SCD
Penicillin V
Blood findings of G6PD during crisis and not
Crisis
- increased haptoglobins
- increased LDH
- reticulocytosis
- hyperbilirbuninaemia
Normal
- all fine
How is G6PD diagnosed
Enzyme assay 2-3 months after the crisis
Differences between beta thalassaemia major and trait
Major is homozygous whereas trait is heterozygous
In major patients present age 3-6 months with faltering growth/signs of extramedullary haematopoiesis
In trait it is normally picked up on routine bloods
Extramedullary haematopoieis signs
Frontal bossing
Maxillary overgrowth (protruding jaws)
What are options if did not get MMR but want it at any time
Can have at any age
Get both doses 2 months apart
What are risk factors for Vit K deficiency
Maternal anti-convulsant use
Breastfeeding
What is vitmain K deficiency and why a problem
Children are born with very low vitamin K which can predispose to haemorrhagic disease of the newborn
As such children are given IM vit k at birth
Can present up to 8 weeks
Alleles of SCD homozygous versus sickle cell trait
Homozygous- HbSS
Trait- HbAS
Main way of differentiating between IgE and non-IgE mediated CMPA
IgE will present within 2 hours of milk
Inheritance of mitochondrial disorders
Only via the maternal line
What appears with red, ragged fibres on muscle biopsy
Mitochondrial disorder
How do mitochondrial disorders present
Myopathy- muscle cramps and weakness
What does PICA suggest in a child
IDA
When does IDA present
Any time after 4 months as have stores for this long then you need supplements from pureed food etc
Risk factors are prolonged breastfeeding and delayed weaning
Consequences of late weaning for kids
IDA
Vit D deficiency
Poor growth
When treating AML what is most important thing to manage after starting chemo
TLS
Differing between alpha beta thalassaemia trait
Beta- rise in HbA2 and HbF
What vaccines is egg allergy a problem for
Influenza
Yellow fever
Presentation of folate deficiency
Anaemia
Glossitis- smooth beefy red tongue
Angular stomatitis
How can polycythaemia present in newborn
Blue peripheries
Lethary
Hypotonia
NEC
HCT over 0.65
First intervention for SCD crisis
Analgesia
When is exchange transfusion indicated for SCD crisis
Priapism
Stroke
Acute chest syndrome
What is found on electrophoresis of sickle cell anaemia
HbS and HbF
