Common Queries
(and hopefully some answers)
Simon Watt
Consultant Haematologist
UHSM
Haematology.Consultant@UHSM.NHS.UK
B12 deficiency
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What is normal?
Large intrapatient variation
Investigations:
Consider malabsorption eg. Coeliac
Intrinsic factor Antibodies
Schillings test not available
Treatment
• B12 injections if less than 100 or definite
signs or symptoms
• Consider oral if greater than 100 and
asymptomatic and repeat in 3-6 months
High ferritin
• Acute phase marker
• Also increased by liver disease
• Suspect haemochromatosis when above
absent
• Check iron levels
• TIBC saturation will be raised in
haemochromatosis
Hereditary Haemochromatosis
Genetics and prevalence
Odds ratio of developing
clinical iron overload by
genotype
Prevalence of genotype
amongst patients with
clinical iron overload
because of hereditary
haemochromatosis (%)
C282Y/C282Y
2300
60-90
C282Y/H63D
49
0-10
C282/WT
3.1
Rare
H63D/H63D
6.3
0-4
H63D/WT
1.6
Rare
WT/WT
1
15-30
Frequency of C282Y
mutation in the
population
Thrombophila
• Who to test?
• Nobody?
Thrombophilia screening
Factor V Leiden (V resistant to cleavage by
Protein C)
Prothrombin gene G20210A variant (high II)
Protein C
Protein S
Low Antithrombin
Thrombophilia screening
Antiphospholipid antibodies
Anticardiolipin antibodies
Lupus anticoagulant
Anti-Beta2 glycoprotein I antibodies
High homocysteine
Thrombophilia?
Recurrence
Testing of relatives
• Should only ever test 1st degree relatives
• May make a difference to management eg
OCP or pregnancy (rarely for men)
• Only really useful if the affected relative
has a known thrombophilia
• May provide false reassurance if
unknown/undetectable thrombophilia in
family
Neutropenia
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Common
Rarely a serious cause found
Multiple causes
Note ethnic group
Referral?
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If neutrophils less than 1
Progressive
Associated with other FBC abnormalities
Recurrent infection requiring antibiotics
Some common causes
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Auto-immune
Myelodysplasia
Liver disease/alcohol
Portal hypertension
Drugs
B12/folate deficiency
Infection and antibiotics
Paraproteins
• More common than
you think
• Probably 10-15% of
over 80s
• 3% of over 50s
What could it be?
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MGUS-most common
Approximately 1% per year progress to
Asymptomatic myeloma
Active myeloma
Plasmacytoma
Waldenstroms- IgM
Assessment
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Level and type of paraprotein
IgA higher risk
IgG less than 15g/l lower risk
Normal SFLC lower risk
IgM associated with Waldenstroms and
not myeloma
Assessment-doesn’t need HSC if
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FBC- normal or unchanged
Calcium-normal
No new pains eg back pain
Renal function normal or stable
Major Symptoms at MM Diagnosis
Bone pain: 58%
Fatigue: 32%
Weight loss: 24%
Paresthesias: 5%
11% are asymptomatic or have only mild
symptoms at diagnosis
Kyle RA, et al. Mayo Clin Proc. 2003;78:21-33.