anaemia pt 2 Flashcards
(91 cards)
1
Q
myeloproliferative disorders=
A
uncontrollable clonal proliferation in one or more cell lines
2
Q
4 myeloproliferative disorders
A
polycythaemia
essential thrombocythaemia
myelofibrosis
CML
3
Q
definition of polycythemia
A
increased Hb, PCV and RCC
4
Q
primary polycythemia =
A
polycythaemia vera
5
Q
polycythemia vera=
A
excess proliferation of progenitor cells
6
Q
gene mutation in polycythemia vera
A
JAK-2 (involved in signalling erythropoiesis)
7
Q
secondary polycythemia due to
A
inappropriate activation of erythropoiesis
8
Q
causes of secondary polycythemia
A
- hypoxia -high altitude, smoking, lung disease, CV disease,
- response- renal disease, hepatocellular carcinoma, adrenal tumour
9
Q
age group more commonly presenting with polycythemia
A
elderly
10
Q
symptoms of polycythemia (9)
A
vertigo tinnitus visual disturbances angina HTN bleeding tendency intermittent claudication pruritis (common) gout
11
Q
management of polycythemia
A
- venesection usually
- chemotherapy- hydroxycarbamide
12
Q
condition closely related to polycythemia =
A
thrombocythaemia
13
Q
50% of people with thrombocythaemia have mutation in
A
JAK-2
14
Q
clinical presentation of thrombocythemia (3)
A
asymptomatic
thromboembolic event
bleeding disorders (rare)
15
Q
myelofibrosis=
A
debilitating chronic myeloproliferative neoplasm
16
Q
what causes myelofibrosis
A
caused by hyperplasia of abnormal megakaryocytes releasing platelet derived growth factor stimulating fibroblasts leading to fibrosis
17
Q
over time what happens to blood cells in myelofibrosis
A
pancytopenia
18
Q
what happens in the liver and spleen in myelofibrosis
A
hepatomegaly and splenomegaly due to haematopoiesis
19
Q
in severe myelofibrosis what happens to the marrow aspiration
A
dry tap
20
Q
blood film of myelofibrosis
A
tear-drop poikilocytes
21
Q
clinical features of myelofibrosis (7)
A
organomegaly weight loss lethargy weakness bruising and bleeding pallor and SOB infection susceptibility
22
Q
treatment of myelofibrosis
A
allogenic stem cell transplantation
23
Q
myelodysplasia=
A
group of acquired bone marrow disorders due to defect in stem cells = bone marrow failure affecting all myeloid cell lines
24
Q
effects of myelodysplasia (2) that lead to high mobidity
A
aplastic anaemia
CML
25
clinical features of myelodysplasia
- anaemia symptoms
- infection
- bleeding
26
pancytopenia=
deficiency in all blood cells -->
- red blood cells (anemia),
- white blood cells (leukopenia),
- platelets (thrombocytopenia).
27
difference in CML vs myelodysplasia
CML monocytes and WBC count may be significantly raised
28
causes of normocytic anaemia (5)
- anaemia of chronic disease
- CKD
- aplastic anaemia
- haemolytic anaemia
- acute blood loss
29
treatment of CKD anaemia
give iron + EPO stimulating agents
30
what is often seen in acute blood loss anaemia
reticulocytosis
31
aplastic anaemia=
pancytopenia of all cell lines
32
what causes aplastic anaemia
reduction in no of pluripotent stem cells and inefficiency with remaining ones
33
primary causes of aplastic anaemia (2)
fanconi disease
| idiopathic
34
fanconi disease features
- increased AML risk
- neurological symptoms
- short stature
- cafe au lait spots
35
secondary causes of aplastic anaemia
-chemicals, glue sniffing, insecticides
-drugs
-infections
pregnancy
-paroxysmal nocturnal haemoglobinuria
36
infections causing aplastic anaemia (4)
Hepititis,
EBV
HIV
TB
37
paroxysmal nocturnal haemoglobinuria =
destruction of RBCs by complement system
38
why does paroxysmal nocturnal haemoglobinuria happen
lack of glycoprotein glycosyl-phosphatidylinositol (GPI) in membranes making them more sensitive to complement
39
paroxysmal nocturnal haemoglobinuria classic feature
haemoglobinuria (dark urine) in morning
40
symptoms of aplastic anaemia
anaemia
bleeding and bruising
infection
41
investigation findings in aplastic anaemia
- pancytopenia
- virtual absence of reticulocytes
- hypocellular or aplastic marrow with increased fat spaces
42
management of aplastic anaemia
TUC
marrow transplantation
immunosuppressive therapy
43
haemolytic anaemia=
anaemia due to destruction of RBCs before their normal life span (120 days)
44
clinical features of haemolytic anaemia (4)
anaemic symptoms
splenomegaly (if site of destruction)
jaundice
gall stones
45
blood investigation findings in haemolytic anaemia
- increased reticulocytes
- raised bilirubin and LDH
- coombs test +ve in auto-immune cause
- reduced hepatoglobulins
46
blood film of haemolytic anaemia
polychromasia -purplish RBC due to reticulocyte appearance
47
urine investigations of haemolytic anaemia
- perl's reaction -high levels of hemosiderin
| - schumm tests shows high Hb levels
48
hereditary spherocytosis due to
defect in cell membrane--> lose part of membrane as pass through spleen
49
hereditary pattern of spherocytosis
autosomal dominant
50
main defect in membrane in hereditary spherocytosis =
structural protein spectrin increased permeability to sodium making cells spherocytic and more easily damaged in spleen
51
presentation of hereditary spherocytosis
- asymptomatic
- anaemic symptoms +/- jaundice and pigment gall stones
- splenomegaly
52
diagnostic tests for hereditary spherocytosis
osmotic fragility test= lyse more quickly
53
treatment of hereditary spherocytosis
splenectomy after childhood and lifelong penicillin prophylaxis
54
thalassaemia=
inherited anaemia due to imbalance production of beta or alpha globulin chain -get hetramers of one kind -4 beta chains
55
result of thalassaemia
ineffective erythropoiesis and haemolysis
56
beta-thalassaemia =
non or reduced beta chains so alpha chains combine inappropriately to synthesise Hb
57
main mutation for beta-thalassaemia
point mutation in Chr 11
58
ethnicity more prone to thalassaemia
mediterranean
59
3 syndromes of beta-thalassaemia
minor
intermediate
major
60
minor (trait) beta-thalassaemia=
mild/ absent microcytic anaemia with normal serum ferritin
61
intermediate beta thalassaemia=
moderate anaemic symptoms without requiring transfusion, may later develop splenomegaly, recurrent leg ulcers, gall stones and infections
62
when and how does major beta thalassaemia usually present
1st year of life
| --> failure to thrive/ recurrent infections, severe anaemic symptoms
63
cause of major beta thalassaemia
alpha chains precipitating within RBCs no HbA produced
64
clinical features of major beta thalassaemia
```
hepatosplenomegaly
bone expansion ("hair" on end of bones on X-ray)
```
65
sickle cell syndrome =
single base mutation in beta globulin chains producing HbS
66
inheritance pattern of sickle cell
autosomal recessive pattern
67
AS sickle cell =
carrier state protective of malaria
68
when does sickle cell anaemia manifest
6 months of life (as foetal Hb is okay)
69
HbS cells are predisposed to
becoming rigid -sickle shape
70
sickling is more common when (4)
pt is cold
hypoxic
dehydrated
acidotic
71
sickled RBCs have (3)
shorted life-span
reduced oxygen carrying ability
impaired passage through microcirculation
72
blood tests in sickle cell show
haemolytic anaemia
73
feature of sickle cell in children
impaired growth
74
acute events with sickle cell (4)
vaso-occlusive crisis
aplastic crises
respiratory problems
anaemia
75
vaso-occlusive crisis=
occlusion of small vessels
76
how does a vaso-occlusive crisis present
- pain in hands and feet
| - fever, sweat, tachycardia
77
management of vaso-occlusive crisis
rest
rehydration
analgesics
78
aplastic crises=
sudden fall in Hb caused by parvovirus
79
commonest cause of death in Sickle cell
acute chest events
80
common pulmonary issues with sickle cell (2)
pulmonary HTN
| chronic lung disease
81
Acute chest syndrome symptoms
```
SOB
chest pain
pulmonary infiltrates
hypoxia
death within hours
```
82
treatment of acute chest syndrome
pain relief
O2
antibiotics
83
anaemia of sickle cell=
stable Hb of 60-80 but acute falls
84
what causes acute falls in Hb in sickle cell
splenic sequestration
85
splenic sequestration =
acute painful enlargement of spleen due to vaso occlusion can lead to splenic pooling of blood causing hypovolemia and circulatory collapse and death
86
multiple episodes of splenic sequestration can cause
hyposplenism = major cause of death in developing countries
87
if splenic death occurs what is seen in RBCs
Howell-Jolly bodies
88
long-term problems of sickle cell
- bone damage -avascular necrosis of bone
- leg ulcers
- cardiac problems (MI, cardiomyopathy, cardiomegaly, arrhythmias)
- neurological (TIA, fits, coma)
89
management of acute sickle cell
oxygen and fluids
90
transfusions given in sickle cell when
high risk of extreme complication- strokes, HF, acute syndromes
91
drug used in sickle cell
hydroxycarbamide
