FBC abnormalities
- Created by: MazzaW
- Created on: 06-12-19 10:41
Anaemia
Sx: fatigue, pallor (skin, conjunctivae), chest pain, SOB, koilonychia
Often insidious.
Ix: Hx (duration of Sx, bleeding- menorrhagia, GI, PR), look at MCV (micro/normo/macrocytic), haematinics (B12, folate, iron studies), reticulocytes
Microcytic: iron deficiency, thalassaemia
Macrocytic: B12/folate (most common, can cause pancytopenia), abnormal thyroid function, high reticulocytes (haemolysis), liver disease, pregnancy, myelodysplastic syndrome
Normocytic: anaemia of inflammation, mixed picture (iron and B12/folate deficiency), myeloma
Iron studies
Low ferritin: iron deficiency (what is the cause? menstruation, think bowel cancer if older patient)
Ferritin may be high even if iron is low (acute phase reaction in inflammation)
Total iron binding capacity- high in iron deficiency, low in haemochromatosis
Serum iron: low in deficiency, high in haemochromatosis
HFE gene (haemochromatosis)
Haemochromatosis
Mostly due to mutation of HFE gene (chrmosome 6p). Autosomal recessive (penetrance varies)
Organs affected by iron deposits: liver, pancreas, joints, heart, skin, gonads
Most serious complications: liver fibrosis, cirrhosis, HCC
Presentation: may be incidental (high ferritin/abnormal LFTs), usually age 40-60 (males) and postmenopausal (females), non-specific initial Sx (fatigue, weakness, arthropathy, heart problems, erectile dysfunction)
Advanced disease: diabetes, bronze skin, hepatomegaly, arthropathy, impotence, amenorrhoea, hypogonadism, cirrhosis, cardiac disease (arrhythmias, cardiomyopathy), impaired memory, mood swings, irritability, depression
Indications for genetic testing: chondrocalcinosis, diabetes, liver disease, raised ferritin, transferrin saturations > 45%, high serum iron, abnormal LFTs,
Rx: regular phlebotomy (weekly-2 weekly), treat complications, chelation therapy if needed (deferasirox)
Haemolysis
Often associated with autoimmune disease (autoimmune haemolytic anaemia).
Also caused by hereditary spherocytosis: autosomal dominant, often presents in children, splenomegaly +/- abdo pain, some need no treatment, if need Rx then splenectomy (try to wait until they are old enough to be immunised against encapsulated organisms- pneumococcus, meningococcus, H. influenzae), need low-dose prophylactic Abx for rest of life
Other causes of haemolysis: G6PD deficiency (X linked, may be precipitated by drugs/infection), malaria, mechanical problems (e.g. valve disease)
Ix: raised bilirubin, decreased haptoglobins, raised reticulocytes, direct antibody test (DAT/direct Coombs test- are there Abs present on RBCs)
Myeloma
Clonal plasma cell (make immune cells) neoplasm, usually accompanied by monoclonal Abs production (paraproteins- can cause end-organ damage)
End organ damage: CRAB (hyperCalcaemia, Renal impairment, Anaemia, lytic Bony lesions)
Check for bony lesions with MRI
Characterised by monoclonal protein in serum and/or urine, lytic bone lesions, and XS plasma cells in BM
Ix: serum free light chains (more expensive), serum and urine electrophoresis (Benz-Jones proteins)
Leukocytosis/leukopenia
Leukocytosis: reactive (inflammation, infection), primary BM problem
Leukopenia: haematinic deficiency (B12, folate), primary BM problem
Thrombocytosis/thrombocytopenia
Thrombocytosis: often reactive, look for markers of inflammation, look at trend of platelets, check for underlying cause, rarely BM problem
Thrombocytopenia: decreased production (haematinic deficiency, acute leukaemia, myelodysplastic syndrome), increased consumption (DIC, sepsis, immune mediated- ITP)
ITP: Dx of exclusion, elevated megakaryocytes in BM, treat with steroids (careful in children)
DIC: patient is sick, use up all clotting factors, decreased fibrinogen and platelets, raised PT + APTT, need to replace clotting factors and platelets
Myeloproliferative neoplasm
Types:
- polycythaemia vera (mostly RBCs, can affect all)
- essential thrombocytosis (mostly platelets)
- myelofibrosis (all cells)
- chronic myeloid leukaemia (mostly WBCs)
Reactive or MPN? Hx, trend of platelets (duration), inflammatory markers
Polycythaemia
Often an incidental finding (raised RBCs)
Increased risk of thrombosis and stroke. Usually asymptomatic, but may present with itc h and splenomegaly.
Average age at Dx: 60
1st look for underlying secondary causes: smoking, alcohol, use of testosterone, living at high altitudes, chronic hypoxia, exogenous Epo production
If no secondary causes, investigate for polycythaemia vera: JAK2 mutation positive in 95% people with polycythaemia vera (upregulation of tyrosine kinase signalling)
Treatment: aspirin, venesection, may need low dose hydroxycarbamide (can cause ulcers)
Essential thrombocythaemia
Exclude reactive cause
Test for JAK2, MPL and calreticulin (genetic abnormalities).
If negative for genetic abnormalities, need BM biopsy
Treat with aspirin. If risk factors for thrombosis (including age >60), may need cytoreduction
Primary myelofibrosis
Presents with sweats, splenomegaly and cytopenias
Can occur alone, but may progress from essential thrombocythaemia/polycythaemia vera
Treatment: supportive care, cytoreduction, JAK2 inhibitors, ?BM transplant
Chronic myeloid leukaemia
PHILADELPHIA CHROMOSOME (9:22 translocation, BCR:ABL)
Commonly an incidental finding
May present with leucostasis (including visual symptoms), splenomegaly, fatigue, night sweats, wt loss
Often have leucocytosis, may have normocytic normochromic anaemia
Rx: tyrosine kinase inhibitors (s/e include pleural effusion), need to monitor PCR, can consider BM transplant
Blood transfusions
Activate massive haemorrhage protocol by phoning the blood bank
Important to group and cross-match (give O-negative while waiting)- need 2 samples separated by time (and preferably also taken by different people) with patient details filled in by the bedside- risk of wrong patient!
Need to give lots of blood products e.g. plasma, platelets
Check PT + fibrinogen (also check fibrinogen in DIC)
Concerns around transfusion- screening for BBV etc
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