Short - The Haematological System
Shorts
Stem:
"assess for anaemia"
"assess for bruising"
"assess for thalassaemia (bold) including extra medullary haematopoiesis, iron overload, complications of chelation"
Introduction
General inspection (standing undressed then lying down)
Well v unwell (CKD, Leukaemia, meningococcaemia, DIC), pain (SCA), wary (NAI)
Growth / sym / charts
- short - anaemia any cause (Thal) /syndrome (FA)
- underweight - nutritional anaemia (Fe/B12/Folate)
Protein / fat
Tanner: delay (SCA, Thal)
sex: haemophilia/G6PD def/WAS - x-linked
Background: Thal - med/asian, Sickle - African/MiddleE
Dysmorphism
Posture (CVA from Haemophilia/SCA/NAI)
Respiratory distress (anaemia, CCF from Fe cardiomyopathy)
Skin
- Palour (anaemia)
- Plethora (polycythemia)
- Jaundice / scratch marks (haemolysis (anaemia) / CLD (coagulopathy)
- hyper/hypo pigmentation/Cafe au lait (FA), hyper from both Fe deposition, and its stimulation of melanin production (Thal)
- bruising petechia (<3mm), purpura (3mm+), ecchymosis (1cm+) (Vascular, plt, coat, NAI)
- cigarette burns
- SLE (ass with ITP (bleed), Lupus (invivo) anticoagulant (clotting)
- CLD stigmata
- subcutaneous nodules (ALL)
- telangectasia (HHT)
- Eczema (WAS)
- infections (Leukaemia, immunodeficiency)
Upper limb
Structure
- clinodactyly/polydactyly (FA)
- thumbs absent/hypoplastic/bifid/triphalangeal/flat thenar eminence/absent 1st metacarpal (FA/DBA)
- radius absent/hypoplastic (FA), radius absent THUMBS PRESENT (TAR)
- Ulna dysplastic (FA), hypoplasic/absent (TAR),
- humerus absent (TAR)
Joint swelling (haemophilia, SCA, HSP, Leukaemia, IBD/JIA anaemia)
Nails
- Koilonychia ie spoon nails (Fe Def)
- leukonychia ie white nails (CLD)
- Clubbing (CLD, CHD)
- splinter haem (SBE)
- periungual
Fingertip pricks (Fe deposition> pancreatitis > DM)
Palms
- crease parlour (anaemia <70)
- crease pigment (thal)
- erythema (CLD)
Pulse
- tachycardia, collapsing pulse (anaemia)
Epitrochlear nodes
BP
- high caused by CKD/HUS, or causing microangiopathic haemolytic anaemia (MAHA)
- low in blood loss, cardiomyopathy of iron overload
- raise pulse pressure (anaemia)
Axillary nodes
Head and neck
HC
- increased in subdural (NAI), hydrocephalus (FA), Thal (bossing)
- Microcephaly (FA/DBA)
Face
- triangular (FA)
- frontal bossing, malar prominence aka chipmunk (Thal)
- Malar rash (SLE)
- cushingoid (Rx)
Ear
- abnormalities (DBA, FA)
- Discharge (WAS)
Eyes (fundoscopy)
- strabismus (FA/DBA/CVA) / hypo (FA) /hypertelorism (FA/DBA)
- Ptosis (FA)
- Nystagmus (FA, CVA)
- conjunctival palour (anaemia)
- Scleral icterus (Haemolysis, CLD)
- subconjunctival haem (Bleeding, NAI)
- Cataracts (DBA, corticosteroids)
- microphthalmos, blue sclera, (DBA)
Fundoscopy
- Ret haem (NAI)
- Roth spots (SBE, Leuk)
- Papilloedema (raise ICP in leukaemia, CVA)
- Proliferative Sickle Retinopathy
- Deferoxamine retinopathy
Nose
- Epistaxis
Mouth
- angular Stomatitis (Fe/B12 deficiency)
- cleft (DBA)
Tongue
- pale atrophic (Fe def)
- beefy (B Def)
- red spots (HHT)
Gums - Gingivitis (leukaemia)
Palate
- petechia
- high (DBA)
Tonsils
- Hypertrophy (Leukaemia)
- exudate (EBV)
Neck
- Short/webbed (FA/BFA)
- Cervical nodes (Leukaemia/lymphoma, viral infections)
- goitre (Fe deposition)
Chest Wall
Spider naevi (CLD)
Supraclavicular nodes
Skeletal tenderness (ALL)
- sternum, clavicles, ribs, shoulders, spine (Leuk infiltrates, SCA)
Elevation of the scapular (DBA)
Abdomen
Scars - intestinal artesias (FA)
Needle marks (SC desferroxamine Rx for iron overload)
Distention (organomeg, CKD)
Splenomegaly (cm below costal margin in mid axillary line)
- extramedullary haematopoiesis
- (thal)
- Osteopetrosis (replace bone marrow > extra medullar Haematop)
- Leukemia spread
- Haemolysis
- Haemaglobinopathy
- membraneopathy
- Storage disorders (Gauchers et)
- infection (EBV, SBE)
Hepatomegaly
- above + hepatitis + Wilsons + Fe deposition
Enlarged kidneys
- hydronephrisis (FA)
- ALL
Adrenal / Abdominal mass (Neuroblastoma > mets in marrow > anaemia)
Genitalia
- hypospadia/micropenis (FA)
- priapism (SCA, Leuk)
- hypogonadism (FA/DBA)
- testicular enlargement (ALL, HSP orchitis/bleed)
Inguinal nodes
Pelvic spring (pain leukaemia, SCA)
Post iliac crest: BMA
Buttocks: HSP
Perianus: IBD
Lower limb
Inspect
- Joint swelling (haemophilia, SCA, HSP, Leukaemia, IBD/JIA anaemia)
- Ulcers (SCA)
- Erythema nodosum (IBD)
- talipes (DBA)
Palpate
- tibia pain (leukaemia, SCA)
- joint tenderness (as above)
Move
- joint ROM down (as above)
Rhomberg pos: sensory ataxia: B12)
Gait
- Antalgic as for joint
- ataxic (B12)
- hemiplegic (bleed/SCA/)
Depending on findings
Full neuro
Joints
Cardiovascular
Respiratory distress (CCF)
- LHF (crept)
- RHF (periorbital, sacral, pedal oedema, hepatomegaly)
Praecordial exam:
- VSD/ASD (FA/DBA/TAR)
- Prosthetic valve (fragmentation anaemia)
- Cardiomyopathy (hemosiderosis from iron overload from transfusions)
- Cardiac failure (anaemia)
- SBE
Temperature (ALL)
UA: Blood (bleeding disorder, SCA, HUS), Hb/urobilinogen (haemolysis) infection (ALL), blood,protein/low SG, (CKD), pH Renal tubular acidosis (DBA)
Stool blood (HSP, IBD)
Ix
FBC/EUC/
Blood film
Coags
HESS test (BP cuff mid systolic and diastolic for 5 mins, wait 2 mins, <10 petechae/sqinch below Antecub normal)
BMA
ECHO (FA/DBA)
Renal US (FA/DBA)
DDx
Anaemia
SCA: Sickle cell anaemia
DBA: Diamond Blackfan anaemia
CLD: Chronic liver disease (Vit K dep = II,IIV,IX,X Prot C, Prot S but all except vWF/VIIIc made by liver)
HHT: Hereditary Haemorragic Telangiectasia
Thrombocytopenia
TAR: Thrombocytopenia absent radius
WAS: Wiskott-Aldrich (eczema-thrombocytopenia-immunodeficiency syndrome)
All lines (aplastic anaemia)
FA: Fanconi Anaemia
Dyskeratosis congenita: axial hyperpigmentation, nail dystrophy (ridging / atrophy), mucosal leukoplakia, sparse hair, hyperkeratosis of palms/soles
Bleeding
- Vasculitis (
- Platelets (low / dysfunction)
- coagulation system
Ix
Hb/WC/Plt
Film - plt size (large ?Bernard-Soulier syndrome)
INR (Extrinsic)
APPT (Intrinsic)
vWF screen: (females must be tested during menses)
Stem:
"assess for anaemia"
"assess for bruising"
"assess for thalassaemia (bold) including extra medullary haematopoiesis, iron overload, complications of chelation"
Introduction
General inspection (standing undressed then lying down)
Well v unwell (CKD, Leukaemia, meningococcaemia, DIC), pain (SCA), wary (NAI)
Growth / sym / charts
- short - anaemia any cause (Thal) /syndrome (FA)
- underweight - nutritional anaemia (Fe/B12/Folate)
Protein / fat
Tanner: delay (SCA, Thal)
sex: haemophilia/G6PD def/WAS - x-linked
Background: Thal - med/asian, Sickle - African/MiddleE
Dysmorphism
Posture (CVA from Haemophilia/SCA/NAI)
Respiratory distress (anaemia, CCF from Fe cardiomyopathy)
Skin
- Palour (anaemia)
- Plethora (polycythemia)
- Jaundice / scratch marks (haemolysis (anaemia) / CLD (coagulopathy)
- hyper/hypo pigmentation/Cafe au lait (FA), hyper from both Fe deposition, and its stimulation of melanin production (Thal)
- bruising petechia (<3mm), purpura (3mm+), ecchymosis (1cm+) (Vascular, plt, coat, NAI)
- raised / tender > vasculititis eg Buttock/LL (HSP)
- flat non tender > low/dysfunctional Plt
- fingertip shape (NAI)
- cigarette burns
- SLE (ass with ITP (bleed), Lupus (invivo) anticoagulant (clotting)
- CLD stigmata
- subcutaneous nodules (ALL)
- telangectasia (HHT)
- Eczema (WAS)
- infections (Leukaemia, immunodeficiency)
Upper limb
Structure
- clinodactyly/polydactyly (FA)
- thumbs absent/hypoplastic/bifid/triphalangeal/flat thenar eminence/absent 1st metacarpal (FA/DBA)
- radius absent/hypoplastic (FA), radius absent THUMBS PRESENT (TAR)
- Ulna dysplastic (FA), hypoplasic/absent (TAR),
- humerus absent (TAR)
Joint swelling (haemophilia, SCA, HSP, Leukaemia, IBD/JIA anaemia)
Nails
- Koilonychia ie spoon nails (Fe Def)
- leukonychia ie white nails (CLD)
- Clubbing (CLD, CHD)
- splinter haem (SBE)
- periungual
Fingertip pricks (Fe deposition> pancreatitis > DM)
Palms
- crease parlour (anaemia <70)
- crease pigment (thal)
- erythema (CLD)
Pulse
- tachycardia, collapsing pulse (anaemia)
Epitrochlear nodes
BP
- high caused by CKD/HUS, or causing microangiopathic haemolytic anaemia (MAHA)
- low in blood loss, cardiomyopathy of iron overload
- raise pulse pressure (anaemia)
Axillary nodes
Head and neck
HC
- increased in subdural (NAI), hydrocephalus (FA), Thal (bossing)
- Microcephaly (FA/DBA)
Face
- triangular (FA)
- frontal bossing, malar prominence aka chipmunk (Thal)
- Malar rash (SLE)
- cushingoid (Rx)
Ear
- abnormalities (DBA, FA)
- Discharge (WAS)
Eyes (fundoscopy)
- strabismus (FA/DBA/CVA) / hypo (FA) /hypertelorism (FA/DBA)
- Ptosis (FA)
- Nystagmus (FA, CVA)
- conjunctival palour (anaemia)
- Scleral icterus (Haemolysis, CLD)
- subconjunctival haem (Bleeding, NAI)
- Cataracts (DBA, corticosteroids)
- microphthalmos, blue sclera, (DBA)
Fundoscopy
- Ret haem (NAI)
- Roth spots (SBE, Leuk)
- Papilloedema (raise ICP in leukaemia, CVA)
- Proliferative Sickle Retinopathy
- Deferoxamine retinopathy
Nose
- Epistaxis
Mouth
- angular Stomatitis (Fe/B12 deficiency)
- cleft (DBA)
Tongue
- pale atrophic (Fe def)
- beefy (B Def)
- red spots (HHT)
Gums - Gingivitis (leukaemia)
Palate
- petechia
- high (DBA)
Tonsils
- Hypertrophy (Leukaemia)
- exudate (EBV)
Neck
- Short/webbed (FA/BFA)
- Cervical nodes (Leukaemia/lymphoma, viral infections)
- goitre (Fe deposition)
Chest Wall
Spider naevi (CLD)
Supraclavicular nodes
Skeletal tenderness (ALL)
- sternum, clavicles, ribs, shoulders, spine (Leuk infiltrates, SCA)
Elevation of the scapular (DBA)
Abdomen
Scars - intestinal artesias (FA)
Needle marks (SC desferroxamine Rx for iron overload)
Distention (organomeg, CKD)
Splenomegaly (cm below costal margin in mid axillary line)
- extramedullary haematopoiesis
- (thal)
- Osteopetrosis (replace bone marrow > extra medullar Haematop)
- Leukemia spread
- Haemolysis
- Haemaglobinopathy
- membraneopathy
- Storage disorders (Gauchers et)
- infection (EBV, SBE)
Hepatomegaly
- above + hepatitis + Wilsons + Fe deposition
Enlarged kidneys
- hydronephrisis (FA)
- ALL
Adrenal / Abdominal mass (Neuroblastoma > mets in marrow > anaemia)
Genitalia
- hypospadia/micropenis (FA)
- priapism (SCA, Leuk)
- hypogonadism (FA/DBA)
- testicular enlargement (ALL, HSP orchitis/bleed)
Inguinal nodes
Pelvic spring (pain leukaemia, SCA)
Post iliac crest: BMA
Buttocks: HSP
Perianus: IBD
Lower limb
Inspect
- Joint swelling (haemophilia, SCA, HSP, Leukaemia, IBD/JIA anaemia)
- Ulcers (SCA)
- Erythema nodosum (IBD)
- talipes (DBA)
Palpate
- tibia pain (leukaemia, SCA)
- joint tenderness (as above)
Move
- joint ROM down (as above)
Rhomberg pos: sensory ataxia: B12)
Gait
- Antalgic as for joint
- ataxic (B12)
- hemiplegic (bleed/SCA/)
Depending on findings
Full neuro
Joints
Cardiovascular
Respiratory distress (CCF)
- LHF (crept)
- RHF (periorbital, sacral, pedal oedema, hepatomegaly)
Praecordial exam:
- VSD/ASD (FA/DBA/TAR)
- Prosthetic valve (fragmentation anaemia)
- Cardiomyopathy (hemosiderosis from iron overload from transfusions)
- Cardiac failure (anaemia)
- SBE
Temperature (ALL)
UA: Blood (bleeding disorder, SCA, HUS), Hb/urobilinogen (haemolysis) infection (ALL), blood,protein/low SG, (CKD), pH Renal tubular acidosis (DBA)
Stool blood (HSP, IBD)
Ix
FBC/EUC/
Blood film
Coags
HESS test (BP cuff mid systolic and diastolic for 5 mins, wait 2 mins, <10 petechae/sqinch below Antecub normal)
BMA
ECHO (FA/DBA)
Renal US (FA/DBA)
DDx
Anaemia
SCA: Sickle cell anaemia
DBA: Diamond Blackfan anaemia
CLD: Chronic liver disease (Vit K dep = II,IIV,IX,X Prot C, Prot S but all except vWF/VIIIc made by liver)
HHT: Hereditary Haemorragic Telangiectasia
Thrombocytopenia
TAR: Thrombocytopenia absent radius
WAS: Wiskott-Aldrich (eczema-thrombocytopenia-immunodeficiency syndrome)
All lines (aplastic anaemia)
FA: Fanconi Anaemia
Dyskeratosis congenita: axial hyperpigmentation, nail dystrophy (ridging / atrophy), mucosal leukoplakia, sparse hair, hyperkeratosis of palms/soles
Bleeding
- Vasculitis (
- Platelets (low / dysfunction)
- coagulation system
Ix
Hb/WC/Plt
Film - plt size (large ?Bernard-Soulier syndrome)
INR (Extrinsic)
APPT (Intrinsic)
vWF screen: (females must be tested during menses)
- von Willebrand factor Ag (VWF:Ag)
- VWF activity
- Ristocetin cofactor activity (VWF:RCo)
- VWF collagen binding (VWF:CB)
- FVIII
- VWF multimer distribution
- Ristocetin-induced platelet aggregation (RIPA)