Haematology Flashcards
1
Q
What is leukaemia?
A
Cancer of a particular line of stem cells in the bone marrow, causing unregulated production of certain types of blood cells.
2
Q
What does leukaemia lead to?
A
Pancytopenia (decreased production of other hematopoietic cells):
-Anaemia, leukopenia, thrombocytopenia.
3
Q
How is leukaemia classified?
A
By the speed of progression (acute/chronic) and the stem cell line that is affected (myeloid or lymphoid).
4
Q
What are the main four types of leukaemia?
A
Acute myeloid leukaemia.
Chronic myeloid leukaemia.
Acute lymphoid leukaemia.
Chronic lymphoid leukaemia.
5
Q
How does leukaemia present?
A
Non-specific - fatigue, fever, failing to thrive, infections.
6
Q
What are four signs of leukaemia?
A
Pallor, abnormal bleeding/bruising, lymphadenopathy and hepatosplenomegaly.
7
Q
Which investigations are used for leukaemia?
A
FBC and blood film.
Lactose dehydrogenase.
Bone marrow biopsy, lymph node biopsy.
Imaging - chest XR, CT, MRI, PET.
8
Q
How is leukaemia treated?
A
Primarily with chemotherapy and steroids.
Radiotherapy and bone marrow transplant.
9
Q
What is acute myeloid leukaemia?
A
Fast neoplastic proliferation of myeloid stem cells.
10
Q
What is the prognosis for acute myeloid leukaemia?
A
Severe, 20% survive in 5y.
11
Q
Which acute leukaemia is the most common?
A
Acute myeloid leukaemia.
12
Q
Who is affected by acute myeloid leukaemia?
A
In adults, mostly the elderly.
13
Q
What is a distinguishing feature of acute myeloid leukaemia?
A
On blood film, a high proportion of blast cells have Auer rods.
Gum hypertrophy.
14
Q
What is chronic myeloid leukaemia?
A
Slow neoplastic proliferation of myeloid cells (eosinophils, basophils, neutrophils).
15
Q
What happens to chronic myeloid leukaemia if not treated fast enough or diagnosed late?
A
May progress to acute myeloid leukaemia.
16
Q
What is characteristic of chronic myeloid leukaemia?
A
Philadelphia chromosome (translocation of genes between chromosome 9 and 22).
17
Q
What are the stages of chronic myeloid leukaemia?
A
Three stages based on blast cell percentage:
<10 = Chronic.
10-20 = Accelerated.
>30 = Blast crisis.
18
Q
What is acute lymphoid leukaemia?
A
Acute neoplastic proliferation of a type of lymphoblast stem cell.
19
Q
Which leukaemia is the most common in childhood?
A
Acute lymphoid leukaemia.
20
Q
What is acute lymphoid leukaemia associated with?
A
Down’s syndrome.
21
Q
Who does acute lymphoid leukaemia affect?
A
Children under 5 and adults over 45.
22
Q
What genetic abnormality is associated with acute lymphoid and chronic myeloid leukaemia?
A
Philadelphia chromosome (translocation of gene from chromosome 9 to 22).
23
Q
What does a blood film of acute lymphoid leukaemia show?
A
Blast cells.
24
Q
What is chronic lymphoid leukaemia?
A
Chronic proliferation of lymphocytes (usually B).
25
Which is the most common leukaemia?
Chronic lymphoid leukaemia.
26
What is chronic lymphoid leukaemia associated with?
Warm haemolytic anaemia.
27
What is a complication of chronic lymphoid leukaemia?
Richter transformation - CLL to aggressive lymphoma.
28
What is seen on blood film for chronic lymphoid leukaemia?
Smudge cells.
29
What is a rare and dangerous complication of chemotherapy?
Tumour lysis syndrome.
30
What is tumour lysis syndrome? What can it cause?
When chemotherapy destroys cells and they release uric acid. Can sit in tissue and cause AKI.
31
How is tumour lysis syndrome treated/prevented?
Allopurinol.
32
What is lymphoma?
Cancers that affect the lymphocytes of the lymphatic system.
33
How does lymphoma cause lymphadenopathy?
Cancerous cells proliferate within the lymph nodes that makes them abnormally large.
34
What is the difference between Hodgkin's and non-Hodgkin's lymphoma?
Hodgkin's - Reed Steinberg cells.
Non-Hodgkin's - Non Reed Steinberg cells.
35
What is a Reed Steinberg cell?
Cell of Hodgkin's lymphoma.
Abnormally large B cells with multiple nuclei with nucleoli in them (OWL).
36
What are the four most common types of Non-Hodgkin's lymphoma?
Diffuse large B cell (mc), Burkitt, follicular, MALT.
37
How many lymphomas are Hodgkin's?
1 in 5 lymphomas.
38
How do lymphomas usually present?
With a painless rubbery lymphadenopathy.
B symptoms - Fever, night sweats, weight loss.
39
What are other five symptoms of lymphoma?
Fatigue, cough, SOB, abdominal pain and recurrent infections.
40
What is the difference between lymphadenopathy in lymphomas?
Hodgkin's - May be painful after drinking alcohol.
Non-Hodgkin's - Not painful after drinking alcohol.
41
Describe the epidemiology of Hodgkin's lymphoma.
Bimodal - Affects teens and the elderly.
42
What are four risk factors for Hodgkin's lymphoma?
HIV, EBV, autoimmune conditions and family history.
43
How is lymphoma diagnosed?
Lymph node biopsy.
Hodgkin's - Reed Steinberg cells.
Non-Hodgkin's - Confirms subtype.
44
What investigations are used to diagnose lymphoma?
Lymph node biopsy.
Lactose dehydrogenase.
Imaging for staging (CT, MRI, PET).
45
Describe Ann Arbor staging for lymphoma.
1. Single lymph node.
2. More than two lymph nodes on same side of diaphragm.
3. Affects lymph nodes on both sides of diaphragm.
4. Spreads outside of the lymph nodes.
46
How is lymphoma treated?
Chemotherapy and radiotherapy.
Monoclonal antibodies such as rituximab.
Stem cell transplantation.
47
What are the four main side effects of chemotherapy?
Tumour lysis syndrome, infertility, infections, other malignancy.
48
What are the six risk factors for Non-Hodgkin's lymphoma?
HIV, EBV, H. pylori, Hep B/C, family history and pesticides.
49
What is myeloma? What does it result in?
Cancer of the plasma cells which results in the production of one type of Ig.
50
Which Ig's are most commonly produced in myeloma?
IgG (55% - mc) and IgA (25%).
51
Who is myeloma most common in? What is the average age?
Mostly in those over 40 and most common in those over 60. Average age is 70.
52
What is multiple myeloma?
Where myeloma affects multiple areas of the body.
53
What are the five risk factors for myeloma?
Old, male, obesity, family history and Black African ethnicity.
54
What are the signs and symptoms of myeloma?
OLD CRAB:
-Old (70+).
-HyperCalcaemia.
-Renal failure.
-Anaemia.
-Bone lesions.
55
Why does anaemia occur in myeloma?
Plasma cells invade the bone marrow and suppress the other blood lines.
56
Why does bone disease occur in myeloma?
The malignant plasma cells release cytokines which increase osteoclast cells and suppress osteoblasts.
-Causes thin bones and osteolytic lesions.
57
How does hypercalcaemia occur in myeloma?
The increased osteoclast activity releases more calcium.
58
Why does renal disease occur in myeloma?
High number of antibodies block the tubules.
59
Why does blood become more viscous in myeloma?
More antibodies in the blood means higher protein in the blood which makes it thicker.
60
What investigations are first used in myeloma? What is found?
FBC - Low WCC, anaemia.
ESR, calcium and plasma viscosity - Raised.
61
What are the second stage of investigations used for myeloma?
BLIP:
-Bence-Jones protein (urine dipstick).
-Serum-free Light chain assay.
-Serum Immunoglobulins.
-Serum Protein electrophoresis.
62
What are the third stage investigations used for myleoma?
Bone marrow biopsy.
Imaging - whole body MRI, CT and skeletal survey.
63
What is found on XRAY/skeletal survey for myeloma?
1. Punched out lesions.
2. Osteolytic lesions.
3. Raindrop skull.
64
What is a differential diagnosis of myeloma?
MGUS - Monoclonal gammopathy of undetermined significance.
65
What is MGUS and what is it's significance?
An excess single type of antibody with myeloma or cancer.
May progress to myeloma (1%).
66
What are the treatment options for myeloma?
Chemotherapy (extend quantity of life).
Bisphosphonates (suppress osteoclasts).
Radiotherapy.
Consider stem cell transplant.
67
Describe the prognosis of myeloma.
Median survival is 5y.
1/3rd of patients die within 3 months.
68
What are three life threatening complications of myeloma?
Renal failure, hypercalcaemia, spinal cord compression.
69
What is glandular fever?
An infection caused by Epstein-Barr virus (EBV).
70
How is glandular fever spread?
Via saliva (kissing, sharing cups).
71
Who does glandular fever affect?
Mostly 15-24y/o and also children.
72
How do people with glandular fever present?
With varied mild symptoms for a few weeks.
-Sore throat, fever, fatigue, lymphadenopathy and hepatosplenomegaly.
73
What is malaria?
An infectious disease caused by members of the Plasmodium family of protozoan parasites and is spread via female anopheles mosquitos.
74
What are the types of malaria?
Most common and most severe - P. falciparum.
Others - P. ovale, P. vivax, P. malariae.
75
Who and where is malaria most common?
In Africa.
In the very young, very old and pregnant.
76
Describe the pathophysiology of malaria.
-Sporozoites in the mosquito saliva go into host human.
-They multiply inside hepatocytes as merozoites.
-They infect RBCs and multiply until rupture and releasing more merozoites into the blood.
77
What can malaria lead to?
Haemolytic anaemia.
78
Why do people infected with malaria have fever spikes every 48 hours?
Merozoites in the RBCs multiply for 48 hours then rupture.
79
How do patients with malaria present?
With a history of recent exotic travel, fever and non-specific symptoms.
80
What six symptoms does malaria causes?
Fever, sweats, malaise, myalgia, headache and vomiting.
81
What three signs does malaria cause?
Pallor due to anaemia, hepatosplenomegaly and jaundice.
82
How is malaria diagnosed?
Malaria blood film.
3 separate readings are taken over 3 days to exclude malaria.
-This confirms subtype.
83
How is malaria prevented?
To be aware of high risk locations.
To use mosquito spray, nets and take medications.
84
Which medications are used for malaria?
Antimalarials - Malarone, mefloquine, doxycycline and quinine.
85
What are the complications of falciparum in malaria?
Seizures, reduced consciousness, AKI, DIC, multi-organ failure and death.
86
What is polycythaemia?
A high concentration of RBCs in the blood.
Erythrocytosis of any cause.
87
What is polycythaemia vera?
High RBC concentration caused by a mutation that proliferates the erythroid stem cell line.
88
What are the primary and secondary causes of polycythaemia?
Primary - Polycythaemia vera.
Secondary - Hypoxia, dehydration, alcohol, high EPO.
89
What mutation is involved in polycythaemia vera?
JAK2.
90
What are the first symptoms of polycythaemia vera?
Initially asymptomatic.
91
What are 4 systemic symptoms of polycythaemia?
Fatigue, weight loss, night sweats, fever.
92
Give four symptoms of polycythaemia.
Itchy after a bath, erythromelalgia (burning pain and redness on skin), blurred vision and headache.
93
Give two signs of polycythaemia.
Reddish plethoric complexion, hepatosplenomegaly.
94
What investigations are used in polycythaemia vera?
FBC, bone marrow biopsy and genetic testing (JAK2).
95
What is found on FBC of polycythaemia vera?
Increased haemoglobin (RBCs).
96
What is the aim of polycythaemia treatment?
To maintain normal blood count as it's non-curative.
97
How is polycythaemia vera treated and why?
Venesection to maintain normal haemoglobin level.
Aspirin to prevent thrombus formation.
Consider chemotherapy (hydroxycarbamide) - can control the disease.
98
What is thrombocytopenia?
Deficiency of platelets in the blood.
99
What two ways can thrombocytopenia arise?
With production or destruction problems.
100
What are the five production problems that lead to thrombocytopenia?
Sepsis. B12/folate deficiency, liver failure and leukaemia.
101
What are the four destruction problems that lead to thrombocytopenia?
Medication, alcohol, ITP and TTP.
102
How does thrombocytopenia usually present?
Bleeding:
1. Nosebleeds (epistaxis).
2. Bleeding gums.
3. Heavy periods (menorrhagia).
4. Easy bruising.
5. Blood in urine and stools.
103
Which five differential diagnoses should be considered with abnormal or prolonged bleeding?
Thrombocytopenia, haemophilia A/B, Von Willebrand disease, DIC.
104
What is immune thrombocytopenic purpura?
An autoimmune condition against platelets which leads to thrombocytopenia.
105
How is immune thrombocytopenic purpura treated?
Prednisolone (steroids), IV Ig's, rituximab and splenectomy.
106
What is thrombotic thrombocytopenic purpura?
A deficiency of the protein called ADAMTS13 which leads to thrombocytpenia.
107
Explain the pathophysiology of thrombotic thrombocytopenic purpura.
ADAMTS13 usually inactivates VWF, but as it's deficient it doesn't and tiny clots form throughout the body, taking up platelets and leading to thrombocytopenia.
108
What is a sign of ITP and TTP?
Purpuric rash.
109
What can thrombotic thrombocytopenic purpura lead to?
Haemolytic anaemia - due to the small clots breaking apart RBCs.
110
How does a deficiency of ADAMTS13 in TTP occur?
Genetic mutation or autoimmune.
111
How is thrombotic thrombocytopenic purpura treated?
Plasma exchange, steroids and rituximab.
112
Which drugs can cause abnormal bleeding?
Over anticoagulation:
-Heparin, aspirin, clopidogrel, thrombolytics.
113
Which inherited conditions can cause abnormal/prolonged bleeding?
Haemophilia A/B, Von Willebrand disease.
114
What is Haemophilia?
Inherited severe bleeding disorders.
115
What are the types of Haemophilia?
A - Factor VIII deficiency.
B - Factor IX deficiency.
116
What is the inheritance pattern of haemophilia?
X-linked recessive.
117
Explain why almost all patients affected by haemophilia A and B are men?
X-linked recessive inheritance.
-Men only have one X chromosome whereas women have two.
-Women require two abnormal copies and if they have only one they're carriers.
-For a woman to be affected she must have an affected father and a mother who is affected/carrier.
118
What are the symptoms of haemophilia?
Spontaneous bleeds and abnormal bleeds.
119
In haemophilia, where are some locations of abnormal bleeding?
Into gums, GI tract, urinary tract, retroperitoneum, in the brain.
120
What are two features of severe haemophilia?
Spontaneous bleeding into joints and muscles.
121
When and how does haemophilia usually present?
In neonates with intercranial bleeding, haematomas and cord bleeding.
122
How is haemophilia diagnosed?
Based on bleeding scores, coagulation factor assays and genetic testing.
123
How is haemophilia treated?
The affected clotting factor should be replaced (A8B9).
-Desmopressin to stimulate VWF release.
-Antifibrinolytics (tranexamic acid).
124
What is Von Willebrand disease?
Mostly autosomal dominant mutations that involves the deficiency, malfunctioning or absence of VWF. This leads to abnormal/prolonged bleeding.
125
What is the most common cause of inherited bleeding?
Von Willebrand disease.
126
What are the types of Von Willebrand disease?
Type 1 to type 3.
-Type 3 is the most severe.
127
What are the symptoms of Von Willebrand disease?
History of unusually easy, prolonged or heavy bleeding.
-Bleeding gums when brushing teeth.
-Epistaxis and menorrhagia.
128
How is Von Willebrand disease diagnosed?
Family history of bleeding or VW disease is relevant.
-Bleeding assessment.
-Clotting factor assays to rule out haemophilia.
-Decreased/absent VWF.
129
How is Von Willebrand disease treated? How is it treated in women?
Desmopressin (stimulates release of VWF).
VWF infusion.
-Women with menorrhagia:
Coil, combined pill, tranexamic acid, hysterectomy.
130
What is DIC?
Disseminated intravascular coagulopathy.
-Massive activation of the coagulation cascade which leads to bleeding.
131
What causes DIC?
Trauma, sepsis, malignancy.
132
Explain the pathophysiology of DIC.
Platelets unnecessarily consumed and thrombose in capillaries leading to a lack of systemic platelets and an increased risk of bleeding.
133
How is DIC diagnosed?
Bloods - decreased fibrinogen, platelets and increased D-dimer.
Blood smear - schistocytes.
134
How is DIC treated?
-Treat underlying cause.
-Cryoprecipitate (low fibrinogen).
-Platelets transfusion.
135
What is HIV?
A retrovirus that enters and destroys CD4 T helper cells, which causes immunosuppression and AIDS.
136
What are the types of HIV?
HIV-1 - most common and more virulent.
HIV-2 - less common, less virulent and rare outside West Africa.
137
What is AIDS?
Acquired immunodeficiency syndrome (late stage HIV).
-Less than 200 CD4/ml.
138
How is HIV transmitted?
Not through day-to-day activities.
-Unprotected sex (anal, vaginal, oral).
-Vertical transmission (any stage of pregnancy, birth and breastfeeding).
-Mucous membrane, blood or open wound exposure to infected blood (needles).
139
What are the 4 main risk factors for HIV?
Sharing needles, needlestick injury, unprotected anal sex, gay sex.
140
Explain the pathophysiology of HIV.
1. HIV binds to CD4 on T helpers and enters.
2. Reverse transcriptase enzyme turns RNA into DNA.
3. Integrase enzyme integrates viral DNA into host cell DNA.
4. Protein synthesis makes more HIV copies.
5. HIV copies leave the cell.
6. Increased viral load and lower CD4 count.
141
What are AIDS-defining illnesses?
When the CD4 count is so low that opportunistic infections and malignancy arises.
142
Give 4 examples of AIDS-defining illnesses.
Kaposi's sarcoma, PCP, lymphomas and TB.
143
How is HIV monitored?
CD4 count and viral load.
144
Describe the stages of HIV infection.
1. Primary infection, there is a CD4 dip and set point. Initial flu-like illness.
2. Clinical latency (asymptomatic for years).
3. Symptoms start (fever, night swears, minor opportunistic infections, shingles).
4. AIDS (CD4 is <200) - AIDS defining conditions.
145
How is HIV diagnosed/investigated?
-p24 antigen (specific for HIV).
-PCR testing for viral load of HIV RNA.
-Blood test for CD4 count.
-Test for anti HIV antibody.
146
What is the main treatment for HIV?
Antiretroviral therapy:
-Reverse transcriptase inhibitors.
-Entry inhibitors.
-Protease inhibitors.
-Integrase inhibitors.
147
What is the aim of ART in HIV?
To maintain CD4 count and decrease HIV RNA copies.
148
Which antibiotic is given to AIDS patients and why?
Prophylactic co-trimoxazole to protect against PCP.
149
Why are statins given to patients with HIV?
To prevent CVD as they're at higher risk.
150
Why are women with HIV given yearly cervical smear tests?
To catch cervical cancer early as they are more susceptible to HPV.
151
What reproductive management options are there for HIV?
Use protection, do regular HIV tests, babies born by C section, no breastfeeding, newborn baby should have one month of ART.
152
What is anaemia?
A low level of haemoglobin in the blood.
153
What is a low level of haemoglobin in men and women?
Men is <130.
Women is <120.
154
If a patient is anaemic what should be checked?
Mean cell volume (MCV).
155
What is the mean cell volume (MCV)?
The size of the RBCs.
156
What are the three types of anaemia?
Microcytic - Low MCV (small RBCs).
Normocytic - Normal MCV (normal sized RBCs).
Macrocytic - High MCV (large RBCs).
157
What are the MCVs for the three types of anaemia?
Microcytic - <80.
Normocytic - 80-95.
Macrocytic - >95.
158
In reference to anaemia, what does haemolytic mean?
Increased breakdown of RBCs.
159
What are the five general symptoms of anaemia?
Fatigue, headache, dizziness, SOB, palpitations.
160
What are the four general signs of anaemia?
Tachycardia, increased respiratory rate, pale skin and conjunctival pallor.
161
What are the four main causes of microcytic anaemia?
Iron deficiency, thalassemia, sideroblastic anaemia and anaemia of chronic disease.
162
What is iron deficiency?
Non-inherited iron deficiency which impairs haemoglobin synthesis and causes microcytic anaemia.
163
What causes iron deficiency?
Insufficient in diet, iron requirements increase (pregnancy), iron is being lost (blood loss), malabsorption (IBD).
164
What is the most common cause of iron deficiency in adults?
Blood loss due to:
Menorrhagia.
IBD or colon cancer.
165
What is the most common cause of iron deficiency in children?
Insufficient iron in diet.
166
What are the signs specific to iron deficiency anaemia?
Koilonychia (spoon shaped nails), angular stomatitis (ulceration at mouth corners), atrophic glossitis (enlarged tongue), brittle hair and nails.
167
How is iron deficiency anaemia diagnosed? How is it investigated in adults?
Measure haemoglobin and MCV first then:
-Iron studies:
Low serum iron.
Low ferritin.
Low transferrin saturation.
Investigate underlying cause in adults with endoscopy.
168
How is iron deficiency anaemia treated?
Treat underlying cause.
-Oral iron (ferrous sulfate).
-Iron infusion.
-Blood transfusion (severe).
169
What is thalassaemia?
Autosomal recessive genetic defect in the protein chains that make up haemoglobin. This produces little to no haemoglobin and causes microcytic anaemia.
170
What are the types of thalassaemia?
Alpha - affect alpha globin chains.
Beta - affect beta globin chains.
171
Describe the pathophysiology of alpha thalassaemia.
Less common - Autosomal recessive defect of alpha globin chains on chromosome 16.
172
Describe the pathophysiology of beta thalassaemia.
More common - Autosomal recessive defect of beta globin chains on chromosome 11.
173
What are the different types of beta thalassaemia?
Minor - One abnormal and one normal gene.
Intermedia - Two defective or one defective and one deletion.
Major - Homozygous for deletion.
174
What are three signs of thalassaemia?
Enlarged forehead, enlarged cheekbones, hepatosplenomegaly.
175
How is thalassaemia diagnosed?
FBC - microcytic anaemia.
Haemoglobin electrophoresis and DNA testing.
176
What occurs in major beta thalassaemia?
Bone deformities.
177
How is thalassaemia treated?
Iron chelation to prevent iron overload.
Splenectomy.
Stem cell transplant.
178
Why does iron overload occur in thalassaemia?
Occurs as a result of faulty creation of RBCs.
179
What is sideroblastic anaemia?
When the body produces enough iron but the iron gets stuck in mitochondria and can't be used in the synthesis of haemoglobin.
180
What is normocytic anaemia?
A deficiency of haemoglobin when the MCV is normal.
181
What are the types of normocytic anaemia?
Haemolytic and non-haemolytic.
182
What are haemolytic anaemias?
Anaemia caused by the destruction of red blood cells.
183
What are the three main inherited normocytic haemolytic anaemias?
Sickle cell anaemia, hereditary spherocytosis and G6PD deficiency.
184
What is the main normocytic haemolytic anaemia that isn't inherited?
Autoimmune haemolytic anaemia.
185
What are the five causes of normocytic anaemia?
3 A's and 2 H's:
-Aplastic anaemia
-Acute blood loss
-Anaemia of chronic disease.
-Haemolytic anaemia.
-Hypothyroid.
186
What is hereditary spherocytosis anaemia? What are the complications and treatment?
An autosomal dominant membranopathy that causes RBCs to be fragile and break easily.
This can lead to splenomegaly and gallstones.
Treated with folate, splenectomy and cholecystectomy.
187
What is G6DP deficiency anaemia? What are the symptoms? What is characteristic?
X-linked recessive mutation that leads to defective G6PD enzyme which affects the RBCs.
-Asymptomatic until precipitated (antimalarials, broad beans, drugs).
-Heinz bodies on blood film.
188
What is autoimmune haemolytic anaemia? What are the types?
Autoantibodies attack RBCs.
Types - warm and cold.
189
What is sickle cell anaemia?
An autosomal recessive genetic mutation that leads to sickle shaped RBCs, making them destroyed more easily and leading to haemolytic anaemia.
190
What is the difference between sickle cell trait and sickle cell disease?
Trait - One copy.
Disease - Two copies.
191
What is the link between sickle cell disease and malaria?
Sickle cell trait (one copy) reduces the severity of malaria. As more people in Africa survive malaria with this trait, the genes are passed on and sickle cell disease is more likely to occur. This is why sickle cell disease is more common in Black African ethnicities.
192
Explain the pathophysiology of sickle cell anaemia.
Autosomal recessive gene on chromosome 11.
GAG turns to GTG of beta-globin and causes irreversible sickling of RBCs.
193
What is the haemoglobin variant in sickle cell disease?
HbS.
194
How is sickle cell disease diagnosed?
Pregnant women at risk are offered screening.
Tested for on newborn heel prick test.
195
What are five complications of sickle cell disease?
Anaemia.
Increased infection risk.
Priapism.
Chronic kidney disease.
Sickle cell crises.
196
What are sickle cell crises?
Umbrella term for acute crises related to sickle cell disease.
197
What are four risk factors for having a sickle cell crisis?
Low oxygen, cold weather, exertion, parvovirus B19.
198
What are four complications of sickle cell crises?
Splenic sequestration.
Vaso-occlusive crises.
Aplastic crisis.
Acute chest syndrome.
199
What is splenic sequestration? How is it treated?
Sickle cell crisis.
-Sickle cells block blood flow in spleen which causes splenomegaly and pain.
-Treated with splenectomy.
200
What is a vaso-occlusive crisis? What is it associated with? What can it cause in men?
Sickle cell crisis.
-Sickle cells block capillaries causing distal ischaemia.
-Associated with high hematocrit and dehydration.
-Causes priapism in men.
201
What is an aplastic crisis? How is it tirggered?
Sickle cell crisis.
-The temporary loss of new RBC creation.
-Usually triggered by Parvovirus B19.
202
What is acute chest syndrome? How is it diagnosed?
A complication of sickle cell disease.
-Fever/resp symptoms with infiltrates on XRAY.
-Associated with infection and non-infection (vaso-occlusion).
203
How is sickle cell disease managed long-term?
Avoid precipitants, blood transfusion and drugs (hydroxycarbamide, antibiotic prophylaxis).
204
What can cure sickle cell disease?
Stem cell transplant.
205
How are acute sickle cell crises managed?
IV fluid, NSAIDs, oxygen, transfusion.
206
What are two causes of non-haemolytic normocytic anaemia?
CKD, aplastic anaemia.
207
What is macrocytic anaemia?
Anaemia with a high MCV.
208
What are the types of macrocytic anaemia?
Megaloblastic and normoblastic anaemia.
209
What is megaloblastic macrocytic anaemia?
Impaired DNA synthesis in the cell which leads to them not dividing normally and leading to larger RBCs.
210
What are the causes megaloblastic macrocytic anaemia?
B12 deficiency.
Folate deficiency.
211
What are the four causes of normoblastic macrocytic anaemia?
Alcohol, reticulocytosis, hypothyroid, liver disease.
212
What is B12 deficiency caused by?
Insufficient dietary intake or pernicious anaemia.
213
What is pernicious anaemia?
An autoimmune condition where antibodies are formed against the parietal cells or intrinsic factor. A lack of intrinsic factor prevents the absorption of vitamin B12 and it leads to vitamin B12 deficiency.
214
What are two symptoms specific to iron deficiency anaemia?
Pica - Dietary cravings for abnormal things.
Hair loss.
215
What six investigations are done if you suspect anaemia?
Haemoglobin, MCV, B12, folate, ferritin, blood film.
216
What are the symptoms of B12 deficiency/pernicious anaemia?
Neurological symptoms:
-Peripheral neuropathy with numbness or paresthesia.
-Loss of vibration or proprioception.
-Visual and mood changes.
217
What investigations are done in B12 deficiency anaemia? What are the results?
FBC, blood film - macrocytic megaloblastic anaemia.
Decreased serum B12.
-Pernicious - autoantibodies.
218
Which autoantibodies are present in pernicious anaemia?
-Intrinsic factor antibody.
-Gastric parietal cell antibody.
219
How is B12 deficiency anaemia managed?
Dietary insufficiency - Cyanocobalamin and diet advice (salmon, eggs).
Pernicious - IM hydroxycobalamin.
220
How is B12 and folate deficiency managed when present together?
B12 deficiency is treated first before correcting the folate deficinecy.
221
Why is B12 deficiency treated before folate deficiency?
Treating patients with folic acid when they have a B12 deficiency can lead to subacute degeneration of the cord.
222
What is folate deficiency?
A macrocytic megaloblastic anaemia caused by insufficient folate in the body.
223
What are the five common causes of folate deficiency?
Malnutrition, malabsorption, pregnancy, alcohol and drugs.
224
What are the symptoms of folate deficiency?
General anaemia without neurological symptoms (this is B12 deficiency).
225
What are the investigations for folate deficiency?
FBC and blood film - macrocytic megaloblastic.
Serum folate - Low.
226
How is folate deficiency treated?
Dietary advice (leafy greens and brown rice).
Oral folate supplements.
227
What is the most common cause of vitamin B12 deficiency?
Pernicious anaemia.
228
What is a risk factor for pernicious anaemia?
Family or personal history of autoimmune disease.
229
What is a sign of B12 deficiency anaemia?
Yellow skin.
230
What is a sign of haemolytic anaemia?
Dark urine/jaundice.
231
Which cells are most responsible for Non-Hodgkin lymphoma?
80% - B lymphocyte.
20% - T lymphocyte.
232
When do the symptoms of sickle cell disease start and why?
Not until a few months old as the primary haemoglobin is fetal haemoglobin (HbF).
233
What can cause chronic hypoxia and subsequently secondary polycythaemia?
Obstructive sleep apnoea, living at altitude, lung disease, smoking.
234
What are the blood film findings in iron deficiency anaemia?
Microcytic hypochromic RBCs, anisocytosis (variation in size), poikilocytosis (irregularly shaped RBCs).
235
What is the difference between relative and absolute polycythaemia?
Absolute - Increased number of RBCs.
Relative - Plasma reduction and normal number of RBCs.
236
How does DIC present?
Bleeding (nose), bruising, rash, GI, brain.
-Respiratory ditress.
