Haematology Flashcards
what is pernicious anaemia?
it is a B12 deficiency anaemia that is due to autoimmune causes where there are ABs against parietal cells or interferon resulting in reduced absorption of B12 in ileum
other causes of B12 deficiency - inadequate intake
what is tested for in pernicious anaemia?
first line is interferon antibody test, second is gastric parietal cell antibody test
how does B12 deficiency present?
peripheral neuropathy, loss of vibration or proprioception, visual, mood and cognitive changes
what is the management of B12 deficiency?
dietary insufficiency - cyanocobalamin
pernicious - 1mg IM hydroxycobalamin 3x week for 2 weeks then every 3 months
treat folate deficiency first to avoid subacute combined degeneration of the cord
what is anaemia?
it is low Hb in the blood (women <120g/L and men <130g/L or MCV<80 for both)
what are causes of microcytic anaemia?
TAILS - thalassaemia, anaemia of chronic disease, iron, lead, sideroblastic
what are causes of macrocytic anaemia?
megaloblastic - B12 or folate
normoblastic - alcohol, reticulocytosis, hypothyroid, drugs
what are the causes of normocytic anaemia?
3As, 2Hs - acute blood loss, anaemia of chronic disease, aplastic, haemolytic, hypothyroidism
how does anaemia present?
tired, SOB, headache, dizziness, palpitations, worsened comorbidities, pica, hair loss, pallor, increased HR and RR
iron - koilonychia, brittle hair, angular cheilitis, atrophic glossitis
haemolytic - jaundice
thalassaemia - bone deformities
CKD - oedema, HTN, excoriations
how is anaemia investigated?
Hb, MCV, B12, folate, ferritin, blood film, OGD, bone marrow biopsy
what is the management of anaemia?
treat cause
what are myeloproliferative disorders?
proliferation of single type of stem cells - cancers of the bone marrow
primary myelofibrosis - proliferation of haematopoeitic stem cells
polycythaemia vera - erythroid cells
essential thrombocytopenia - megakaryocytes
what is the risk of myeloproliferative disorders?
progression to AML
what mutations are myeloproliferative disorders associated with?
JAK2, MPL and CALR mutation
what do myeloproliferative disorders result in?
the cytokines such as fibroblast growth factor lead to fibrosis and scar tissue leading to anaemia and leukopenia, the production of blood cells then occurs elsewhere resulting in hepatosplenomegaly, portal HTN and SC compression
how are myeloproliferative disorders investigated?
FBC (PV = increased RBC, PT = increased platelets, PM - anaemia, leukocytosis, leukopenia, thrombocytopenia) blood film (PM = tear drop RBC, poikilocytosis, blasts), bone marrow biopsy, test for mutations
how do myeloproliferative disorders present?
fatigue, weight loss, night sweats, fevers, anaemia, splenomegaly, portal HTN, decreased platelets and WCC, increased RBC, thrombosis, conjunctival plethora, ruddy complexion
how are myeloproliferative disorders managed?
PM - allogenic SC transplant, chemo, supportive
PV - venesection, aspirin, chemo
PT - chemo and aspirin
what is the pathophysiology of myelodysplastic syndrome?
myeloid bone marrow cells not maturing properly - no healthy blood cells –> anaemia, neutropenia, thrombocytopenia
who most likely to get myelodysplastic syndrome?
over 60 years with previous RT or CT
what is the risk of myelodysplastic syndrome?
progression to AML
how does myelodysplastic syndrome present?
can be asymptomatic
pallor, SOB, fatigue, frequent or severe infections, purpura, bleeding
how is myelodysplastic syndrome investigated?
FBC - blasts
bone marrow aspiration and biopsy
how is myelodysplastic syndrome managed?
watch and wait
supportive e.g. blood transfusion
chemo
stem cell transplant
what is von williebrand disease?
it is the most common inherited haemophilia = AD inheritance is most common. It is the deficiency, absence or malfunctioning of glycoprotein VWF
how does VWB disease present?
easy, prolonged, heavy bleeding, e.g. nose, gums, menorrhagia, operations, FHx
how is VWB disease diagnosed?
no formal test
abnormal bleeding with FHx, bleeding assessment tools and lab investigations
how is VWB disease managed?
only when trauma or needed
desmopressin to stimulate the VWBF release
VWF infusion (usually with factor VIII)
menorrhagia - tranexamic or mefanamic acid, norethisterone, COCP, mirena, hysterectomy
