Haem quickfire Flashcards
Polycythaemia
a) Primary cause and secondary causes
b) Presentation
c) Treatment
d) What is “apparent polycythaemia”
e) FBC of polycythaemic patient with acute bleed
f) PRV may progress to what condition?
a) Primary - polycythaemia rubra vera (90% caused by JAK2* mutation), diagnose by blood test for JAK2 mutation, presents in 60s usually
*Also present in 50% myelofibrosis and 30% essential thrombocythaemia
Secondary - chronic hypoxia* (e.g. congenital heart disease, COPD, smoking), EPO-secreting tumours, androgen therapy, anabolic steroids
*Hypoxia causes high affinity Hb, whereby oxygen saturations remain high even in hypoxic states - this leads to poor oxygen delivery to the tissues and drives further RBC production
b) - Non-specific - headaches, tiredness, itching
- “Ruddy” complexion
- Splenomegaly, early satiety, abdo discomfort
- Venous/arterial thrombosis
- Bleeding (as additional platelets often are dysfunctional)
- High LAP
c) Venesection
Myelosuppression- chemo (e.g. hydroxycarbamide)
Low-dose aspirin useful for itch
d) Increased Hb/haematocrit due to reduced plasma volume, with normal red cell mass:
- Dehydration
- Stress (including Type A personalities)
e) Low Hb but high RBC mass
f) Myelofibrosis
Thrombotic thrombocytopenic purpura
a) Pentad (FRANT)
b) Risk factors
c) Investigation findings
d) What scoring system used to determine likelihood of TTP?
e) Management
f) Associated with what genetic defect? (can be tested for)
a) Fever
Renal failure
Anaemia (haemolytic)
Neurological changes (confusion, stroke)
Thrombocytopenia
b) Pregnancy, obesity, cancer
Age 30-50 usually
c) Fragmented RBCs (schistocytes),
- Thrombocytopenia
- Haemolytic anaemia (raised reticulocytes, bilurubin and LDH)
- Normal D-dimer and clotting screen (in contrast to DIC)
d) PLASMIC
- Haemolysis, PLT <30, MCV <90, INR <1.5, Cr >200, active cancer, previous solid organ or stem cell transplant
e) Acutely:
- PLEX (if PLASMIC score high or ADAMTS13 deficient)
+ steroids
+ rituximab
- If these fail, splenectomy
Long-term:
- once PLT >50, give aspirin 75mg oD reduce platelet aggregation
- folic acid
f) ADAMTS13 deficiency
- a vWF cleaving protein (its absence means ultra-large vWF is not cleaved and this increases clotting risk in large vessels)
- can be tested for in a blood test
Cryoglobulinaemia
a) What is it?
b) Presentation - type 1, type 2/3
c) Cause
d) Investigations
e) Management
a) Cryoglobulins are immune complexes that precipitate at Temp < 37°C and are deposited on vascular endothelium, causing organ damage through vasculitis and hyperviscosity
b) Type 1:
- Acrocyanosis, Raynaud’s, arterial thrombosis, retinal haemorrhage
Type 2 or 3:
- Classical triad (Meltzer’s triad): palpable purpura, weakness and arthralgia
Other presentations:
- Glomerulonephritis
- Cutaneous involvement - palpable purpura, livedo reticularis
- Obstructive airway disease: FEV1 reduction
- Positive rheumatoid factor
c) Hep C virus associated with mixed (type 2 and 3) cryoglobulinaemia
d) - Cryoglobulins - blood sample must be kept at 37C as soon as taken, then in lab cooled to 4C to observe for precipitating immune complexes
- Rheumatoid factor
- Low C4, raised ESR
- Hep C serology
e) - Avoidance of cool temperatures
- NSAIDs for arthralgia
- Steroids +/- PLEX if any vasculitis/GN
- Treat underlying condition
Prolonged APTT
a) resolution with 50:50 mixing
b) no improvement with mixing
c) explain why mixing should work
a) Haemophilia, VWD
b) - APLS
- Drug induced - auto antibodies to factor VIII (causes - phenytoin, penicillin, sulpha drugs)
c) You only need 20% normal clotting factors for a normal clotting time, so mixing should resolve bleeding times
HHT (Osler-Weber-Rendu)
a) Common presentation
b) Inheritance
c) Treatment
a) Usually presents in the 40s:
- Telangiectasia in the skin
- Nosebleeds
- GI bleeds
- AVMs elsewhere - liver (portal HTN, high output cardiac failure), lung (pulmonary haemorrhage), brain (stroke, seizures, headaches)
b) Autosomal dominant
- 5 different genes may be affected
- Most common is ENG gene coding for endoglin
c) - Manage anaemia and iron deficiency
- Nasal cautery/ablation
- Intracranial and gastric AVMs should be resected/embolised
Transfusion complications:
a) Immediately SOB, tachycardic and back pain
b) Within 6h of 1 unit, has SOB, tachycardia and widespread crackles
c) Chronic transfusions, skin turns grey, develops diabetes and heart failure
a) ABO incompatibility
- stop transfusion immediately
b) TRALI: more common in females and multiparity. Look for anti-HLA or anti-neutrophil antibodies. Manage with respiratory support and use male donor blood for any subsequent blood products needed
c) Iron overload. If transfusions necessary treat with desferrioxamine
vWD
a) Inheritance
b) Management for minor procedures
c) Management for major invasive procedures
a) AD
b) - Desmopressin (increases factor VIII and vWF levels) + Tranexamic acid
c) Recombinant factor VIII
e.g. Haemate P (contains factor VIII and vWF)
Major haemorrhage
a) Life-threatening warfarin bleeds - management
b) If fibrinogen low -?
a) - Vit K 5-10mg
- PTC (beriplex)
b) Give cryoprecipitate
LDH
a) What is it?
b) What does a rise in LDH indicate?
c) Causes
a) Intracellular enzyme
b) Indicates cell/tissue damage as usually not found in high quantities in the blood
c) Sepsis, malignancy (particularly lymphoma), hypoxia, rhabdomyolysis, haemolysis, liver/kidney injury, pancreatitis, burns
Splenectomy
a) Optimal time for vaccinations
b) Essentials in post-splenectomy management
a) 2-4 weeks prior, should be vaccinated against:
- N. meningitidis (Men C)
- S. pneumoniae (Pneumococcus)
- H. influenzae (HiB)
b) - Pen V for life
- Warning card
- Malarial prophylaxis for travel essential
Thrombophilias
a) Most common in Europe - explain
b) Other common
c) Test for protein C deficiency
d) APLS features
a) Factor V Leiden
- Also known as ‘Activated protein C resistance’
- Heterozygotes (1 mutation) have 5%* lifetime risk of VTE
- Protein C is unable to inactivate Factor V in Leiden mutation, hence increased VTE risk
- Not to be confused with Factor V deficiency which causes bleeding risk
- Counsel with COCP risk and long journey risk
*Factor 5 leiden = 5% risk VTE
b) Protein S def, Protein C def, antithrombin 3 def
(note: protein C and S are reduced by warfarin)
c) Copperhead snake venom assay - activates protein C so the level can be measured
d) - Recurrent venous and arterial thromboses
- Recurrent miscarriage
- Anti-cardiolipin and lupus anticoagulant antibody +ve
G6PD deficiency
a) Inheritance
b) Epidemiology
c) Triggers
d) Presentation
e) Characteristic findings
a) X-linked recessive, so mainly affects boys
b) In malaria-endemic areas
c) - Fava beans
- Drugs - primaquine, sulpha drugs, rasburicase, antimalarials, dapsone
- Infections
d) - Asymptomatic until trigger causes acute haemolysis
- 2-3 days post-trigger (quicker with fava beans)
- Fever, abdo pain
- Anaemia, jaundice, splenomegaly
e) Bite cells, blister cells, Heinz* bodies
*Think of a boy eating tin of Heinz beans and getting yellow and sick
Neutropenia: causes
- Viral infection - transient, usually reciprocal lymphocytosis
- Haematological - cancers, infiltration, aplastic, MDS
- Chemotherapy
- Drug-induced: carbimazole, carbamazepine, clozapine
- Ethnic
- Congenital
- Acquired immune deficiency
- Hypersplenism
Eosinophilia: causes
Allergic disorders:
- asthma, hayfever, eczema
- drug reaction e.g. drug eruption, AGEP
Parasitic infections
- NOT malaria or threadworm
Haematological:
- Cancers - myeloma, Hodgkin lymphoma, some T-cell lymphomas
- Hyper-eosinophilic syndrome
Churg-Strauss (EGPA)
Allergic bronchopulmonary aspergillosis (ABPA)
Thrombocytosis
a) Causes
b) Symptoms
c) Gene associated with ET
d) Treatment (in ET)
a) Essential (primary) thrombocythaemia:
- PLT >1000 highly suggestive
- Giant platelets - abnormally functioning, so can cause thrombosis and bleeding
- WCC low, normal or high
- Bleeding times prolonged
- Marrow: large megakaryocytes
- Thrombocytosis is a cause of pseudohyperkalaemia also
Secondary:
- Bleeding
- Infection
- Inflammation
- Trauma
- Malignancy
- Post-splenectomy
- Iron deficiency
b) - Headaches, dizziness, tiredness
- Ischaemic pain in the extremities, redness, improves with cold and worse with heat
- DVT, PE, CVA, MI, other clots (especially in PLT >1500 or other risk factors eg smoking)
- More rarely bleeding due to the immaturity of platelets in ET
c) JAK-2 (as for PRV)
d) - Aspirin (reduces platelet count)
- Hydroxycarbamide (risk of leukaemia with use long term)
- Chemotherapy/HSCT
