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Common Queries (and hopefully some answers)

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

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Common Queries (and hopefully some answers)

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  1. Common Queries(and hopefully some answers) Simon Watt Consultant Haematologist UHSM Haematology.Consultant@UHSM.NHS.UK

  2. B12 deficiency • What is normal? • Large intrapatient variation • Investigations: • Consider malabsorption eg. Coeliac • Intrinsic factor Antibodies • Schillings test not available

  3. 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

  4. 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

  5. Hereditary Haemochromatosis

  6. Genetics and prevalence

  7. Frequency of C282Y mutation in the population

  8. Thrombophila • Who to test? • Nobody?

  9. Thrombophilia screening Factor V Leiden (V resistant to cleavage by Protein C) Prothrombin gene G20210A variant (high II) Protein C Protein S Low Antithrombin

  10. Thrombophilia screening Antiphospholipid antibodies Anticardiolipin antibodies Lupus anticoagulant Anti-Beta2 glycoprotein I antibodies High homocysteine

  11. Thrombophilia?

  12. Recurrence

  13. 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

  14. Neutropenia • Common • Rarely a serious cause found • Multiple causes • Note ethnic group

  15. Referral? • If neutrophils less than 1 • Progressive • Associated with other FBC abnormalities • Recurrent infection requiring antibiotics

  16. Some common causes • Auto-immune • Myelodysplasia • Liver disease/alcohol • Portal hypertension • Drugs • B12/folate deficiency • Infection and antibiotics

  17. More common than you think Probably 10-15% of over 80s 3% of over 50s Paraproteins

  18. What could it be? • MGUS-most common • Approximately 1% per year progress to • Asymptomatic myeloma • Active myeloma • Plasmacytoma • Waldenstroms- IgM

  19. 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

  20. Assessment-doesn’t need HSC if • FBC- normal or unchanged • Calcium-normal • No new pains eg back pain • Renal function normal or stable

  21. 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.

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