Common Queries(and hopefully some answers)

Simon Watt

Consultant Haematologist

UHSM

Haematology.Consultant@UHSM.NHS.UK

B12 deficiency

• 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 HaemochromatosisHereditary Haemochromatosis

Genetics and prevalenceGenetics and prevalenceOdds ratio of developing Odds ratio of developing clinical iron overload by clinical iron overload by genotypegenotype

Prevalence of genotype Prevalence of genotype amongst patients with amongst patients with clinical iron overload clinical iron overload because of hereditary because of hereditary haemochromatosis (%)haemochromatosis (%)

C282Y/C282YC282Y/C282Y 23002300 60-9060-90

C282Y/H63DC282Y/H63D 4949 0-100-10

C282/WTC282/WT 3.13.1 RareRare

H63D/H63DH63D/H63D 6.36.3 0-40-4

H63D/WTH63D/WT 1.61.6 RareRare

WT/WTWT/WT 11 15-3015-30

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

• Common

• Rarely a serious cause found

• Multiple causes

• Note ethnic group

Referral?

• If neutrophils less than 1

• Progressive

• Associated with other FBC abnormalities

• Recurrent infection requiring antibiotics

Some common causes

• 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?

• MGUS-most common

• Approximately 1% per year progress to

• Asymptomatic myeloma

• Active myeloma

• Plasmacytoma

• Waldenstroms- IgM

Assessment

• 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

• 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.