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Common Queries (and hopefully some answers)

This document provides essential insights into common haematological queries, including B12 deficiency, its diagnosis, and treatment options like injections and oral supplements. It discusses high ferritin levels as acute phase markers and hereditary haemochromatosis. Furthermore, it covers thrombophilia screening, management of neutropenia, and assessment of paraproteins and their implications, such as MGUS and myeloma. This resource is valuable for healthcare professionals seeking to improve their understanding of these conditions and their management.

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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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