Haematology Flashcards
1
Q
Symptoms of Anaemia
A
fatigue dyspnoea faintness palpitations headache tinnitus anorexia (angina with underlying coronary artery disease)
2
Q
Signs of Anaemia
A
pallor
hyperdynamic circulation- tachycardia, flow murmurs & cardiac enlargement
(rare- retinal haemorrhages)
later - heart failure- rapid transfusion here may be fatal
3
Q
Low MCV anaemias
- microcytic
A
iron-deficiency
thalassaemia
sideroblastic anaemia
4
Q
Normal MCV anaemias
-normocytic
A
acute blood loss anaemia of chronic disease bone marrow failure renal failure hypothyroidism haemolysis pregnancy
5
Q
High MCV anaemias
- macrocytic
Megaloblastic
A
B12/ folate deficiency
cytotoxics (hydroxycarbamide)
6
Q
Causes of iron deficiency anaemia
A
blood loss
poor diet (babies and children, special diets or poverty)
malabsorption
hook worm
7
Q
Signs of chronic iron deficiency anaemia
A
koilonychia
atrophic glossitis
angular cheilosis
post cricoid webs
8
Q
Blood film: iron deficiency anaemia
A
microcytic
hypochromic
with anisocytosis and poikilocytosis
- low ferritin as well
9
Q
Treatment of iron deficiency anaemia
A
- oral iron (se nausea, black stools)
-
10
Q
Anaemia of chronic disease - problems
A
- poor use of iron in erythropoiesis
- cytokine induced shortening of RBC survival
- Decreased production of and response to EPO
11
Q
Causes of anaemia of chronic disease
A
chronic infection vasculitis rheumatoid malignancy renal failure
12
Q
Tests for chronic disease anaemia
A
nomocytic anaemia
ferritin normal or raised
13
Q
Treatment of chronic disease anaemia
A
treat underlying disease more vigorously
EPO
14
Q
Causes of macrocytic anaemia
- non-megaloblastic
A
- alcohol
- reticulocytosis
- liver disease
- hypothyroidism
- pregancy
15
Q
Causes of macrocytic anaemia
- other
A
myelodysplasia
myeloma
myeloproliferative disorders
aplastic anaemia
16
Q
Causes of folate deficiency
A
- poor diet
- increased demand
- malabsorption
- drugs, alcohol, anti-epileptics, methotrexate, trimethoprim
17
Q
Treatment of folate deficiency
A
- treat underlying cause
- 5mg OD PO folic acid (400 micrograms/ day in pregnancy)
18
Q
Vit B12 deficiency anaemia
General features
A
- symptoms of anaemia, lemon tinge (pallor + jaundice), glossitis, angular cheilosis
19
Q
Neuropsychiatric features of Vit b12 anaemia
A
irritability
depression
psychosis
dementia
20
Q
Neurological features of Vit B 12 anaemia
A
parasthesia, peripheral neuropathy
sub acute combined degeneration of the spinal cord
21
Q
Sub-acute combined degeneration of the spinal cord
A
insidious onset with peripheral neuropathy ( low b12)
Combination of symmetrical dorsal column loss- sensory & LMN & symmetrical corticospinal tract loss - motor & UMN
- joint position & vibration sense go first
- ataxia –> stiffness & weakness
Triad: 1. extensor plantars (UMN) 2. Absent knee jerks (LMN), 3. Absent ankle jerks (LMN)
22
Q
Pernicious anaemia
A
autoimmune atrophic gastritis
- achlorhydria & lack of gastric intrinsic factor
23
Q
Associations with pernicious anaemia
A
other autoimmune diseases thyroid disease vitiligo addison's disease hypoparathyroidism
24
Q
Tests
Pernicious anaemia
A
HB- low, raised MCV, low serum B12, low/normal reticulocytes
specific tests: Parietal cell antibodies, intrinsic factor antibodies
25
Treatment for pernicious anaemia
Treat cause if possible
| IM B12
26
haemolytic anaemia
intravascular
| extravascular - reticuloendothelial system (macrophages of liver, spleem and bone marrow)
27
Acquired causes of haemolytic anaemia
1. Immune mediated and direct anti-globulin test (Coombs) +Ve
2. Direct antiglobulin (Coombs) test -ve
3. Microangiopathic haemolytic anaemia
4. Infection (malaria)
5. Paroxysmal nocturnal haemolytic anaemia
28
Acquired causes of haemolytic anaemia
Immune mediated and direct anti-globulin test (Coombs) +Ve
- drug induced
- auto-immune haemolytic anaemia - extravascular. Warm or cold (e.g. raynaurds)
- paroxysmal cold haemoglobulinaemia
29
Acquired causes of haemolytic anaemia
Microangiopathic haemoltic anaemia
mechanical disruption of RBCs in circulation
intravascular haemolysis & schistocytes
HUS, TTP, DIC, pre-eclampsia
30
Acquired causes of haemolytic anaemia
| Direct antiglobulin negative
autoimmune hepatitis
hep b& c
post flu and vaccination
drugs - piperacillin and rituximab
31
Acquired causes of haemolytic anaemia
Paroxysmal nocturnal haemoglobulinuria
(Marchiafava-Micheli disease)
- rare acquired stem cell disorder
- haemolysis, bone marrow failure + thrombophilia
- visceral thrombosis (hepatic, mesenteric, renal & CNS veins) and pulmonary embolism --> poor outcome
32
Hereditary causes of haemolytic anaemia
1. Enzyme defects (G6PD deficiency, pyruvate kinase deficiency)
2. Membrane defects (Coombs -ve, need folate, splenectomy) ( hereditary spherocytosis, hereditary ellipocytosis, herediatry ovalocytosis)
3. haemoglobinopathy (sickle cell, thalassemia)
33
Hereditary causes of haemolytic anaemia
| - glucose-6-phosphate dehydrogenase deficiency
x-linked
- mediterranean/ Africa/ Middle/Far East
oxidative crises due to decreased glutathione production, precipitated by drugs, exposure to vicia fava ( broad beans) or illness
- rapid anamia & jaundice
- bite and blister cells on film
34
Sickle Cell Anaemia
Autosomal recessive
| abnormal B globin chains --> HbS instead of HbB
35
Pathogenesis of Sickle Cell Anaemia
HbS polymerises when deoxygenated
| RBCs deform, produces sickle cell which are fragile and haemolyse- also block small vessels --> crisis
36
Tests for Sickle Cell Anaemia
Haemolysis is variable (Hb 60-90)
Increased reticulocytes and bilirubin
Film - sickle cells and target cells
Hb electrophoresis
37
Signs & symptoms of Sickle Cell Anaemia
Vaso occlusive
```
- chronic haemolysis well tolerated
common.
Triggered by cold, dehydration, infection or hypoxia. Hands & feet affected - dactylitis,
mesenteric ischaemia,
stroke, seizures or cognitive defects,
avascular necrosis (femoral head),
low flow priaprism
```
38
Signs & symptoms of Sickle Cell Anaemia
- aplastic crises
- due to parvovirus 19, sudden reduction in marrow production. self limiting.
39
Signs & symptoms of Sickle Cell Anaemia
- sequestation crisis
mainly affects children as spleen has not yet atrophied
- pooling of blood in spleen and liver with organomegaly, severe anaemia and shock
urgent transfusion needed
40
Signs & symptoms of Sickle Cell Anaemia
Acute chest syndrome
pulmonary infiltrates involving complete lung segments, causing pain, fever, tachypnoea, wheeze and cough
prodromal painful crisis in the days before
chief infiltrates- fat embolism from marrow, infection with chlamydia, mycoplasma or viruses
Rx- O2, analgesia, broad spec abx, brochodilators, blood transfusion or exchange
41
Comlications of sickle cell anaemia
- splenic infarction <2 (microvascular occulsion)--> increased susceptibility to infection
- poor growth
- chronic renal failure
- gall stones
- retinal disease
- iron overload
- blood born infections
- lung damage (hypoxia --> fibrosis --> pulmonary hypertension
42
Management of chronic disease
Sickle cell anaemia
- hydroxycarbamide if frequent crises
- hyposlenism = prophylactic abx and immunisation
- febrile children risk sepsis
- bone marrow transplant may be curative
43
Managing sickle cell crises
- prompt generous analgesia - IV opiates
- cross match blood - FBC, reticulocytes, blood cultures, MSU ± CXR
- rehydrate with IVI and keep warm
- O2
- measure PCV, reticulocytes, liver and spleen size twice daily
- Transfuse if Hb/ reticulocytes fall sharply
44
Thalasaemias
genetic disease of unbalanced Hb synthesis
- under (or no) production of one globin chain
- Mediterranean to the Far East
point mutations, chromosome 11
45
Beta-thalassemia minor (trait)
B/B+, heterozygous state
Carrier
asymptomatic
mild, well tolerated anaemia, may be exacerbated by pregnancy
may be confused with iron deficiency anaemia
46
Beta- thalassemia intermedia
moderate anaemia not requiring transfusion
| splenomegaly
47
Beta-thalassemia major
abnormalities in both B-globin genes
severe anaemia and failure to thribe
extramedullary haemopoiesiss occurs to anaemia causing characteristic head shape and hepatosplenomegaly
Osteopenia
'Hair on end' skull x-ray
life long transfusion - Fe overload may lead to endocrine failure, liver disease and cardiac toxicity
48
Treatment of thalassemias
```
promote fitness & healthy diet
folate supplements
2-4 weekly transfusions to keep hb>90
Iron chelation- oral deferiprone + desferrioxmine
Ascorbic acid --> urinary excretion of iron
- splenectomy
- hormone replacement
bone marrow transplant
```
49
alpha thalassemias
4 alpha-chains deleted = in utero death (Bart's Hydrops)
3 deletions = moderate anaemia & haemolysis (hepatosplenomegaly, leg ulcers and jaundice)
2 deletions = asymptomatic carriers, low MCV
1 deletion = clinically normal
50
Causes of bleeding disorders
1. vascular defects
2. platelet disorders
3. coagulation disorders
51
Vascular defects causing bleeding disorders
Congenital - Osler-Weber-Rendu syndrome, connective tissue disease (Ehler-Danlos)
Acquired: senile purpura, infection, steroids, scurvy (perifollicular haemorrhages), Henoch-SChlonlein purpura
52
Platelet disorders causing bleeding disorders
Decreased marrow production (aplastic anaemia, megaloblastic anaemai, marrow infiltration, marro suppession)
Excess destruction (immune, non- immune (DIC, TTP, HUS), idiopathic thrombocytopeania - antiplatelate antibodies)
Poorly functioning platelets 0 myeloproliferative diseas, NSAIDs and raised urea
53
Coagnulation disorders
Congenital - haemophilia, von willebran's disease
Acquired: anti-coagulants, liver disease, DIC, vitamin K deficiency
54
Haemophilia A
Factor VIII deficiency
| x-linked
55
Presentation of Heamophilia A
depends on severity- early in life or after surgery/ trauma with bleeds into joints - crippling arthropathy and into muscles --> haematomas (increased pressure can lead to nerve palsies and compartment syndrome)
56
Diagnosis of Haemophilia A
Prolonged APTT
| Decreased factor VIII assay
57
Management of Haemophilia A
Avoid NSAIDs and IM injections
- minor bleeds- pressure, elevation and desmopressin
- major bleeds - increase factor VIII levels (50% of normal)
- life threatening bleeds- 100% normal factor VIII with recombinant VIII
58
Christmas disease
Haemophilia B
Factor IX deficiency
inherited
X-linked
behaves clinically like haemophilia A
59
Acquired haemophilia
bleeding diathesis causing big mucosal bleeds in men and women
caused by sudden appearance of auto-antibodies that interfere with factor VIII
treat with steroids
60
Liver disease bleeding disorder
decreased synthesis of clotting factors
decreased absorption of vitamin K
abnormalities of platelet function
61
Malabsorption bleeding disorders
less uptake of vitamin K
| treat with IV vitamin K or FFP for acute haemorrhage
62
Incidence of AML
commonest acute leukaemia of adults
increases with age
can be a long term complication of chemotherapy
also associated with myelodysplastic states, radiation and Down's syndrome
63
Morphological classification of AML
1. AML with recurrent genetic abnormalities
2. AML with mutilineage dysplasia (2ndary to pre-existing myelopdysplastic syndrome
3. AML - therapy realated
4. AML - other
5. Acute leukaemias of ambiguous lineage (myeloid and lymphoid phenotype)
64
Symptoms of AML
Marrow Failure - anaemia, infection, bleeding, DIC
Infiltration - hepatomegaly, splenomegaly, gum hypertrophy, skin involvement. CNS involvement rare at presentation
65
Diagnosis of AML
Raised WCC (but may be normal or low)
Need bone marrow biopsy
Cytogenic analysis needed for treatment recommendations
66
Complications of AML
- infection (neutropenic sepsis)
- may be viral, bacterial or fungal
- chemotherapy causes raised urate levels from tumour lysis --> allopurinol
- leukostasis (hyperviscosity)
67
Treatment of AML
Supportive care
Chemotherapy - daunorubicin and cytarabine
Bone marrow transplant (allogenic or autologous mobilised peripheral blood stem cell transplant)
68
Bone marrow transplant
- pluripotent haematopoietic stem cells collected from the marrow
- allogenic transplant from HLA matched donor
- complications = graft vs host disease, opportunistic infections, relapse, infertility
69
ALL
Malignancy of lymphoid cells - B or T lymphocyte cell lines
- arrested maturation and promoting uncontrolled proliferation of immature blast cells --> marrow failure and tissue infiltration
- genetic susceptibility + environmental trigger- ionising radiation, Down's
- Commonest childhood cancer
70
Classification of ALL
1. Morphological
2. Immunological - precursor B-cell ALL, T-cell ALL, B-cell ALL
3. Cytogenic - chromosomal analysis (commonly Philadelphia chromosome)
71
Signs and Symptoms of ALL
Marrow failure: anaemia, infection, bleeding
Infiltration: Hepato-splenomegaly, lymphadenopathy- superficial or medastinal, orchidomegaly, CNS involvement - cransial nerve palsies, meningism
72
Common infections in ALL
Chest, mouth, perianal and skin
| Bacterial scepticaemia, zoster, CMV, measles, candidiasis, pneumocystis pneumonia
73
Tests for ALL
Blasts on blood film & bone marrow
CXR & CT to look for mediastinal and abdominal lymphadenopathy
LP to look for CNS involvement
74
Treatment of ALL
Support- blood/platelet transfusion, IV fluids, allopurinol
Infection- low threshold for sepis
Chemotherapy
Matched related allogenic marrow transplantations
75
CML
uncontrolled clonal proliferation of myeloid cells
| myeloproliferative disorder
76
CML and Philadelphia
present in 80% of all CML
hybrid reciprocal translocation of long arm of chromosome 9 and chromosome 22
worse prognosis without philadelphia
77
Symptoms of CML
```
chronic and insidious
weight loss
tiredness
fever
sweats
may be features of gout (purine breakdown)
Bleeding
Abdominal discomfort
```
78
Signs of CML
Splenomegaly
Hepatomegaly
Anaemia
Bruising
79
Tests for CML
Very high WCC - whole myeloid spectrum (neutrophils, myelocytes, basophils, eosinophils)
Low or normal Hb
Platelets variable
High urate and B12
80
natural history of CML
- variable
- median survival 5-6 years
chronic phase - lasts months or years. Few symptoms
accelerated phase - increasing symptoms, spleen size, difficulty controlling counts
- -> blast transformation - features of acute leukaemia ± death
81
Treatment of CML
imatinib - BCR-ABL tyrosine kinase inhibitor
(dasatinib, nilotinib, bosutinib)
stem cell transplantation
if lymphoblastic transformation --> treat as ALL
82
CLL
Accumulation of mature B cells that have escaped programmed cell death & undergone cell-cycle arrest
commonest leukaemia
Mutations, trisomies and deletions influence risk
pneumonia may be a triggering event
83
Rai stage
CLL
0 - lymphocytosis alone. Survival >13 yrs
I - lymphocytosis + lymphadenopathy. Survival 8yrs
II - lymphocytosis + spleno/hepatomegaly. Survival 5 yrs
III - lymphocytosis + anaemia. Survival 2 yrs
IV - lymphocytosis + platelets. Survival 1 yr
84
Symptoms of CLL
none
- often presents as a surprise finding on routine FBC
Anaemia or infection prone
if severe - weight loss, sweats, anorexia
85
Signs of CLL
enlarged rubbery non-tender nodes
splenomegaly
hepatomegaly
86
Tests for CLL
Raised lymphocytes- may be marked
Autoimmune haemolysis
Marrow infiltration - low Hb, neutrophils, platelets
87
Complications of CLL
1. Autoimmune haemolysis
2. Infection due to hypogammaglobulinaemia - bacterial, viral esp. h. zoster
3. Marrow failure
88
Natural history of CLL
status quo for years of even disease regression
usually slow node enlargement
death due to infection or transformation to aggressive lymphoma (Richter's syndrome)
89
Treatment of CLL
- consider drugs if: symptomatic, immunoglobulin denes are unmutated, 17p deletions
- radiotherapy - treats lymphadenopathy
- supportive care - transfusion, IV human immunoglobulin
Relapsed disease - rituximab + dexamethasone (R-dex) before stem cell transplant
90
Hodgkin's Lymphoma
Malignant proliferation of lymphocytes
Accumulate in lymph nodes
Divided into Hodgkin's & Non-Hodgkin's
Hodgkin's --> mirror image nuclei - Reed-Sternberg cells
91
Incidence of Hodgkin's Lymphoma
```
2 peaks of incidence
- young adults and elderly
men to women 2:1
- increased risk if affected sibling
- EBV
- SLE
- post transplantation
- westernisation
- obesity
```
92
Symptoms of Hodgkin's Lymphoma
- enlarged, painless, non-tender, rubbery superficial nodes
- typically cervical, also axillary or inguinal
- constitutional upset
- weight loss, fever, night sweats, pruritus and lethargy
- alcohol induced node pain
- mediastinal node involvement causes features due to mass effect - SVCO, bronchial obstruction, pleural effusion
Pel-Ebstein fever implies a cyclical fever with long periods of normal/ low temp
93
Signs of Hodgkin's Lymphoma
Lymph node enlargement
Cachexia
Anaemia
Spleno-hepatomegaly
94
Tests for Hodgkin's Lymphoma
Tissue Diagnosis - lymph node excision biopsy if possible
Bloods- FBC, blood film, ESR, LFT, LDH, urate, Ca2+, raised ESR or low Hb indicate worse prognosis, LDH raised as released in cell turnover
95
Staging of Hodgkin's Lymphoma
Ann Arbor
I - single lymph node lesion
II - involvement of 2 + nodal areas on the same side of the diaphragm
III - involvement of nodes on both sides of the diaphragm
IV - spread beyond lymph nodes - liver or bone marrow
96
Ann Arbor
| A or B
A- no systemic symptoms other than pruritus
B - weight loss, unexplained fever or night sweats
97
Chemoradiotherapy in Hodgkin's Lymphoma
Radiotherapy + short course chemo
| ABVD - Adriamycin, Bleomycin, Vinblastine, Dacarbazine
98
Complications of Hodgkin's Lymphoma treatment
Radiotherapy --> second malignancy - solid tumours, IHD, hypothyroidism and lung fibrosis
Chemo --> myelosuppression, nausea, alopecia, infection, AML, non-Hodgkins lymphoma, infertility
99
Emergency presentations of Hodgkin's Lymphoma
Infection
| SVC Obstruction - raised JVP, sensation of fullness in head, dyspnoea, blackouts, facial oedema
100
Non-Hodgkin's Lymphoma
all lymphomas without Reed-Sternberg cells
most derived from B-cell lines
Diffuse Large B-Cell Lymphoma = most common
Dont all focus on nodes e.g. MALT
101
Causes of non-Hodgkin's Lymphoma
Immunodeficiency - drugs, HIV, H. pylori, toxins, congenital
102
Non-Hodgkin's Lymphoma extra nodal disease
Skin
Oropharynx
Gut - gastric MALT (h. pylori), non - malt gastic
Small bowel lymphoas (immunoproliferatie small intestine disease), MALT or enteropathy associated intra-epithelial T-cell lymphoma
Bone, CNS & lung also possible sites
103
Symptoms of Non-Hodgkin's Lymphoma
fever
night sweats
weight loss (less common than in Hodgkins - indicates disseminated disease)
Pancytopenia - from marrow involvement - anaemia, infection, bleeding
104
Tests for Non-Hodgkin's Lymphoma
FBC, U&E, LFTs, (raised LDH = worse prognosis)
Marrow and node biopsy for classification
Ann Arbor Staging
105
Mangement of Non-Hodgkin's Lymphoma
Low-grade - indolent, incurable, widely disseminated
High-grade- more aggressive but often curable- rapidly enlarging lymphadenopathy with systemic symptoms
106
Treatment of Non-Hodgkin's Lymphoma
Low grade- depends on symptoms. May need nothing, radiotherapy may be curative
High grade - R-CHOP. Granulocyte colony stimulating factors help neutropenia.
107
Pancytopenia
reduction in all major cell lines
- reduced marrow production
- increased peripheral destruction (hypersplenism)
108
Agranulocytosis
granulocytes- wbcs with neutrophil/ basophil/ eosinophil granules have stopped being made
Neutropenia
109
Aplaastic anamia
rare stem cell disorder --> pancytopenia and hypoplastic marrow
presents with anaemia, infection or bleeding.
110
Myeloproliferative disorders
Polycythaemia
Polycythaemia rubra vera
Essential thromocythaemia
Myelofibrosis
111
Polycythaemia
- relative (reduced plasma volume, normal RBC mass)
- -> due to dehydration, or chronic due to obesity, HTN, high alcohol or tobacco intake
- absolute (increased RBC mass)
- -> primary (Polycythaemia rubra vera) or secondary due to hypoxia - altitude, chronic lung disease, cyanotic congenital heart disease, heavy smoking, or inapporpriately high EPO secretion
112
Polycythaemia Rubra Vera
Malignant proliferation of a clone derived from one pluripotent marrow stem cell- mutation in JAK 2 present in >90%
Excess proliferation of RBCs, WBCs and platelets --> hyperviscosity and thrombosis
113
Signs of Polycythaemia Rubra Vera
```
asymptomatic & detected on FBC
signs due to hyperviscosity - headaches, dizziness, tinnitus, visual disturbance, itch after a hot bath & erythromelagia
- facial plethora and splenomegaly
- gout due to increased RBC turnover
- arterial or venous thrombosis
```
114
Treatment of Polycythaemia Rubra Vera
Venesection in younger patients
| Hydroxycarbamide (alpha interferon in women of childbearing age)
115
Prognosis of Polycythaemia Rubra Vera
Variable
thrombosis and haemorrhage are the main complications
transition to myelofibrosis in 30% or acute leukaemia in 5%
Monitor FBC every 3 months
116
Essential thrombocytopenia
clonal proliferation of megakaryocytes leading to persistently high platelets with abnormal function
causes bleeding, arterial/venous thromosis & microvascular occlusion
- headache, atypical chest pain, hight headedness, erythromelagia. Exclude other causes of thrombocytosis
Low dose aspirin ± hydroxycarbamide
117
Myelofibrosis
hyperplasia of megakaryocytes - produce platelet derived growth factors --> intesne marrow fibrosis and myeloid metaplasia (haemopoiesis in the spleen and liver)--> massive hepatosplenomegaly
118
Presentation of myelofibrosis
hypermetabolic sumptoms: night sweats, fever, weight loss, abdominal discomfort due to splenomegaly, bone marrow failure
119
Treatment and prognosis of myelofibrosis
marrow support
allogenic stem cell transplant
Prognosis 4-5 years
120
Myeloma
abnormal proliferation of a single clone of plasma or lymphoplasmacytic cells --> secretion of Ig or Ig fragment causes dysfunction of many organs
monoclonal band or paraprotein on electrophoresis
121
Myeloma classification
based on the Ig product
2/3 = IgG
1/3 = IgA
2/3 pts have Bence-Jones proteins in their urine
122
Symptoms of myeloma
- back pain
- osteolytic bone lesions --> back ache, pathological fractures and vertebral collapse
- hypercalcaemia
- anaemia, neutropenia or thrombocytopenia from marrow infiltration
- recurrent bacterial infection (from chemo)
- renal impairment from light chain deposition
123
Diagnosis of myeloma
high index of suspicion - back/new pain not improving
Do ESR, film and electrophoresis
1. Monoclonal protein band in serum or urine electrophoresis
2. Plasma cells raised on marrow biopsy
3. Evidence of end organ damage from myeloma - hypercalcaemia, renal insufficiency or anaemia
4. Bone lesions - a skeletal survey detects bone disease§
124
Complications of myeloma
Hypercalcaemia
Spinal cord compression
Hyperviscosity
Acute kidney injury
125
Treatment of myeloma
Supportive- bone pain- analgesia, bisphosphonate, anaemia- transfuse & EPO, rehydrate
Chemotherapy
126
Paraproteinaemia
prescence in the circulation of immunoglobulins produced by a single clone of plasma cells
1. Multiple myeloma
2. Waldenstrom's macroglobulinaemia
3. Primary amyloidosis
4. Monoclonal gammaoapthy of uncertain significance (MGUS )
5. Paraproteinaemia in lymphoma or leukaemia
6. Heavy chain disease- neoplastic cells produce free Ig heave chains - may progress to lymphoma
127
Amyloidoisis
group of disorders characterised by extracellular deposits of protein in an abnormal fibrillar form resistant to degradation
proliferation of plasma cell clones --> amyloidogenic monoclonal immunoglobulins --> fibrillar light chain protein deposition --> organ failure --> death
128
Organ involvement in amyloidosis
Kidneys- glomerular lesions - proteinuria and nephrotic syndrome
Heart- restrictive cardiomyopathy, arrhythmias, angina
Nerves- peripheral & autonomic neuropathy, carpal tunnel
Gut - macroglossia, malabsorption/ weight loss, perforation, haemorrhage, obstruction and hepatomegaly
Vascular - purpura esp. peri-orbital
129
What is thrombophilia
inherited or acquired coagulopathy predisposing people to thrombosis
130
Inherited causes of thrombophilia
- activated protein c resistance/ Factor V Leiden
- Prothrombin gene mutation
- Protein C & S deficiency
- Antithrombin deficiency
131
Acquired causes of thrombophilia
- 3rd generation progesterones in COCP
| - antiphospholipid syndrome
