Heamatology & Oncology Flashcards
What is the best screening for herediatry angiooedema
C4 levels
Hereditary angioedema (HAE) is a rare autosomal dominant condition caused by a deficiency or dysfunction of the C1 inhibitor protein (C1-INH
his leads to increased activation of the complement and contact systems, resulting in excessive release of bradykinin, which causes angioedema. The most appropriate screening test for HAE is serum C4 levels, as they are typically low in patients with this condition due to increased consumption during uncontrolled activation of the complement system. If serum C4 levels are found to be low, further testing for serum C1-INH levels and function should be performed to confirm the diagnosis.
Howell-Jolly bodies
Howell-Jolly bodies are the finding of red blood cell nuclear proteins with red blood cells which are normally removed by the spleen. As such Howell-Jolly bodies are seen in patients who have undergone splenectomy or have function asplenia (i.e from sickle cell disease).
Wiskott-Aldrich syndrome
ombination of frequent infections, eczema and thrombocytopenia are characteristic of the Wiskott-Aldrich syndrome, which is caused by an abnormality in the WASP gene.
Sideroblastic anaemia ink stain
Sideroblastic anaemia when stained with Perl’s stain shows ring sideroblasts
perl (sideroblastic) rings
Thrombotic thrombocytopenic pupura pentad
TTP presents with a pentad of fever, neuro signs, thrombocytopenia, haemolytic anaemia and renal failure
For which - ITP or TTP is plasma exchange a treatment
TTP
TTP test
ADAMTS13
Pathogenesis of thrombotic thrombocytopenic purpura (TTP)
abnormally large and sticky multimers of von Willebrand’s factor cause platelets to clump within vessels
in TTP there is a deficiency of ADAMTS13 (a metalloprotease enzyme) which breakdowns (‘cleaves’) large multimers of von Willebrand’s factor
overlaps with haemolytic uraemic syndrome (HUS)
CLL - treatment
Fludarabine, Cyclophosphamide and Rituximab (FCR)
or if mutation on TP53 : ibrutinib
For fit patients with intact TP53 and with mutated IGHV, chemoimmunotherapy with FCR remains an acceptable initial therapy. Mutations of TP53 are associated with a poor response to chemo-immunotherapy (e.g. FCR) and warrant the use of novel agents such as Bruton tyrosine kinase inhibitors (e.g. ibrutinib), or BCL2 inhibitors (e.g. venetoclax).
Myelofibrosis blood film
tear-drop poilikocytes
‘Pencil’ poikilocytes are usually associated with
iron deficiency anaemia
JAK2 mutation associated with
JAK2 mutation is seen in essential thrombocytopenia and polycythaemia, both of these conditions can develop into myelofibrosis (therefore you also have JAK2 mutation in myelofibrosis.
philideliphia chromosome associated with good/bad prognosis in what
Philadelphia translocation, t(9;22) - good prognosis in CML, poor prognosis in AML + ALL
It results from a reciprocal translocation between chromosome 9 and 22, which leads to the formation of BCR-ABL fusion gene that encodes for a tyrosine kinase protein with unregulated activity. This protein plays a crucial role in cell proliferation and survival, contributing to the pathogenesis of leukaemia. The presence of this Philadelphia chromosome is associated with a worse prognosis in acute lymphoblastic leukaemia (ALL), as it often leads to resistance against traditional chemotherapy agents.
Cryoglobulinaemia
Type I: Monoclonal, associated with hematologic cancers.
Type II: Mixed (monoclonal and polyclonal), often linked to hepatitis C and autoimmune diseases.
Type III: Polyclonal, similar associations to Type II but typically less severe.
Essential thrombocytosis metuations
JAK2 or CALR
If its not Jack (JAK), its Carl. (CALR)
classic clinical sign of chronic lead poisoning
Blue lines on gum margin, also known as Burton’s line
