Haematology exam Flashcards
generalised lymphadenopathy
differentials:
- infection: EBV, CMV, HIV
- AI disorders
- Leukaemia/lymphoma
- Storage disorders
investigations: FBC, LDH, ESR, serology, imaging, biopsy
Purpura
causes:
- infection: meningococcal
- thrombocytopaenia: neonatal, ITP, leukaemia
- coagulation disturbance: DIC, haemophilia, vWD
- vasculitis: HSP, SLE
HSP
incidence: commonest vasculitis
clinical:
- onset <10 years with preceding viral illness
- arthralgia
- abdominal pain
- nephropathy
investigations: skin biopsy, urine
Wiskott Aldrich syndrome
genetic: X linked
clinical:
- immunodeficiency
- severe eczema
- thrombocytopaenia
Thrombocytopaenia Absent Radius (TAR)
genetic: AR
clinical:
- absent radii
- cardiac/renal/skeletal malformation
- thrombocytopaenia: high mortality from bleeding
Anaemia
clinical:
- lethargy
- pallor (nail bed/conjunctiva)
- koilonychia (spoon shaped nails)
- flor mumurs
causes:
defection production:
- iron/vitamin B12/folate deficiency
- marrow failure: aplastic, infiltration, pure red cell aplasia, drugs
- chronic disease
loss RBCs:
- haemorrhage, IBD, ulceration
- NSAIDs
excessive destruction:
- haemolytic anaemia
investigations:
- FBC, film, retics, iron studies
Fanconi’s anaemia
genetics: AR aplastic anaemia with malignant potential
clinical:
- short
- hyperpigmentation
- microcephaly
- micropthalmia
- hypoplasia/asplasia thumb
- renal anomalies
- MR
Hereditary spherocytosis
genetics: AD, caucasians
clinical:
- looks well
- jaundice
- pallor
- cholecystectomy scar
- splenomegaly
investigations:
- film: Howell-Jolly bodies, spherocytes
- bilirubin: elevated unconjugated bilirubin
- osmotic fragility test
treatment:
- folic acid, splenectomy (post immunisation)
complications:
- worsens with infections
- haemolytic/aplastic crisis
- infection post splenectomy
Thalassaemia
genetics: AR
clinical:
- jaundice
- pallor
- splenomegaly
- frontal bossing
- malar hyperplasia
- hepatomegaly
- splenomegaly
- previous long bone fracture
- IM sites on abdomen
investigations:
- anaemia (hypochromic/microcytic)
- film (poikilocytes, target cells, nucleated red cells)
- FBC: increased HbF
treatment:
- hypertransfusion: monthly
- iron overload: chelation with desferrioxamine
- folid acid supplementation
- splenectomy: increased risk sepsis
- BMT
- monitor for cardiac siderosis causing failure
- monitor for DM
Sickle cell disease
genetics: point mutation beta globin gene
pathophysiology: deoxygenated HbS sickles decreasing life span
clinical:
- pallor
- jaundice
- no palpable spleen (unless infant)
- cholecystectomy scar
- short stature
investigations:
- Hb electrophoresis: >80% HbS
- blood film (poikilocytes, sickled cells, target cells)
complications:
- haemolysis
- splenic sequestration: spleen enlarged due to haemolysis, blood pools in spleen causing shock
- aplastic crisis: parvovirus
- vasoocclusive sx: sludging in microcirculation
- acute chest sx: lung infarction +/- infection
- stroke 10%
- cholelithiasis
- delayed growth
treatment:
- hydroxyurea
Haemophilia
genetic: Haem A (X linked)
degree
- severe <1% activity
- moderate 1-5%
- mild 6-30%
clinical:
- severe bruising at birth/IM
- haemarthroses: knees, elbows, ankles from vascular synovium
- long term osteoporosis, muscle atrophy, immobile joint
investigations:
- APTT prolonged, normal platelets/PT/bleeding time
treatment:
- factor VIII concentrates
- vasopressin
Sickle Cell
complications
