Anaemia Flashcards

1
Q

What is anaemia?

A

a deficiency in the number of red blood cells (RBCs) or a decrease in the concentration of haemoglobin (Hb) in the blood below what is normal for a healthy person of the same age and gender as the individual.

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2
Q

What is considered low haemoglobin for males vs females?

A

 Low Hb in males: <135g/L
 Low Hb in females: <115g/L

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3
Q

What are the general symptoms of anaemia?

A

 Fatigue
 Dyspnoea
 Faintness
 Palpitations
 Headache
 Tinnitus
 Anorexia
 Angina if pre-existing CAD

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4
Q

What are the general signs of anaemia that can be found on physical examination?

A

 May be absent
 Pallor i.e. conjunctival
 If severe (<80g/L): signs of hyperdynamic circulation (tachycardia, flow murmurs such as ejection systolic loudest over apex) and cardiac enlargement, or retinal haemorrhages
 Later, heart failure may occur
The first thing to check is MCV
 Normal: 76-96fL

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5
Q

What is microcytic anaemia?

A
  • insufficient haemoglobin production
  • Anaemia (reduced Hb) associated with a low MCV(< 80 fl) 
  • Anaemia itself is reduced Hb levels 

<13.5g/dL in males 
<12.0g/dL in females 

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6
Q

What causes microcytic anaemia?

A

“Reduced haemoglobin synthesis”
1. Iron Deficiency- MOST COMMON (absorbed in duodenum) 

Iron deficiency can be caused by: 
- Chronic blood loss (e.g. GI malignancy, haemorrhoids, menorrhagia) - most common cause of IDA 
- Reduced absorption (e.g. small bowel disease) 
- Increased demands (e.g. growth, pregnancy) 
- Reduced intake (e.g. vegans/vegetarianism, coeliac) 

  1. Plummer-Vinson Syndrome: Triad - glossitis, iron-deficiency anaemia & dysphagia due to oesophageal webs 
  2. Thalassemia 
  3. Sideroblastic Anaemia: abnormality of haem synthesis (inherited or it can be secondary (e.g. to alcohol, drugs) 
  4. Lead poisoning 
  5. Anaemia of chronic disease (the chronic disease= inflammation; the iron cannot travel to cells)
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7
Q

What are the risk factors for microcytic anaemia?

A
  • Hookworm infection
  • CKD
  • Coeliac disease
  • Gastrectomy
  • NSAID use
  • CHF (congestive heart failure)
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8
Q

What are the presenting symptoms of microcytic anaemia?

A
  • Tiredness 
  • Lethargy 
  • Dyspnoea 
  • Pallor 
  • Malaise 
  • Exacerbation of ischaemic conditions (e.g. angina, intermittent claudication) 
  • Palpitations
  • Cold intolerance
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9
Q

What are the presenting symptoms of lead poisoning?

A

Anorexia 

Nausea/Vomiting 

Abdominal pain 

Constipation 

Peripheral nerve lesions

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10
Q

What signs of microcytic anaemia can be found on physical examination?

A
  1. Pallor, pale conjunctiva 
  2. Brittle nails and hair 
  3. Koilonychia (if severe) 
  4. Lead poisoning signs: 
    - Blue gumline 
    - Peripheral nerve lesions (causing wrist or foot drop) 
    - Encephalopathy 
    - Convulsions 
    - Reduced consciousness 
    - Glossitis 
    - Cheilitis (lip inflammation)
    - Angular stomatitis (red, swollen patches in the corners of your mouth)
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11
Q

What investigations are used to diagnose/ monitor microcytic anaemia?

A
  1. Iron studies:
    - Iron Deficiency Anaemia → low ferritin (confirms iron deficiency), raised transferrin, increased TIBC
    - Anaemia of Chronic Disease → high ferritin, low transferrin, raised ESR, reduced TIBC, increased hepcidin
    (Transferrin and TIBC go together, transferrin saturation will be opposite)
  2. Haemoglobin electrophoresis= - diagnosis of thalasaemia and sickle cell disease
    - Increased HbA2 → beta-thalassemia trait (significant finding in relation to planned pregnancies)
  3. Blood film:
    - IDA → pencil poikilocytes, hypochromic and microcytic red cells, target cells, anisopoikilocytosis (RBC’s of different shapes and sizes)
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12
Q

How is microcytic anaemia managed?

A
  1. Iron Deficiency 
    - Oral iron supplements (oral ferrous sulphate for 3 months after correction) 
    Side e: nausea, abdominal pain, constipation, diarrhoea 
    - Iron-rich diet: meat, dark green leafy vegetables & iron-fortified bread 
    - Packed RBC transfusion if Hb <70 g/L or symptomatic at rest 
  2. Sideroblastic Anaemia 
    - Pyridoxine (vitamin B6) used in inherited causes 
    - Blood transfusion and iron chelation can be considered if there is no response to other treatments 
  3. Lead Poisoning 
    - Remove the source 
    - Dimercaprol 
    - D-penicillamine 
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13
Q

What complications may arise from microcytic anaemia?

A
  • High-output cardiac failure 
  • Complications related to the CAUSE
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14
Q

What is normacytic anaemia?

A

Anaemia with a normal MCV (80-100).
“normal-sized red blood cells, but you have a low number of them.”

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15
Q

What are the causes of normocytic anaemia?

A

“RBC pooling in spleen, insufficient haemopoesis, acute blood loss”
1. Decreased production of normal-sized blood cells (e.g. anaemic of chronic disease, aplastic anaemia) 
2. Increased production of HbS (blood cells are destroyed much more rapidly because of the sickling process+ pooling) 
3. Increased destruction of red blood cells (e.g. haemolysis, post-haemorrhagic anaemia) 
4. Uncompensated increase in plasma volume (e.g. pregnancy, fluid overload) 
5. Vitamin B2 or B6 deficiency 
6. Mixed deficiency: patients may be both B12 deficient and iron-deficient –> mixed picture 
7. Bone marrow failure (causes: post-infectious, chemotherapy, malignancy, congenital conditions) 
8. Renal failure - leading to erythropoietin deficiency 
9. Acute blood loss

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16
Q

What are some risk factors for normocytic anaemia?

A
  • Autoimmune disorders
  • Malignancy
  • Acute/chronic infection
  • Trauma
17
Q

What are the presenting symptoms/ signs of normocytic anaemia?

A

Typical symptoms and signs of anaemia (depends on severity) 

E.g. breathlessness, fatigue, conjunctival pallor 

18
Q

What investigations are used to diagnose/ monitor normocytic anaemia?

A
  1. FBC - check Hb and MCV 
    - Check history for haemorrhage 
  2. ACD: IRON STUDIES
    - MCV: normal
    - MCHC: low
    - Ferritin: normal/high
    - Transferrin/transferrin saturation/TIBC: low
  3. BONE MARROW FAILURE: IRON STUDIES
    - MCV: normal
    - MCHC: normal
    - Ferritin: normal
    - Transferrin/transferrin saturation/TIBC: normal
    - Hct: low
19
Q

How is normocytic anaemia managed?

A
  • ACD: Treat underlying disease
  • Red blood cell transfusion
  • Supplemental iron
20
Q

What is macrocytic anaemia?

A

Anaemia (low Hb) associated with a high MCV of erythrocytes (> 100 fl in adults) 

21
Q

What causes macrocytic anaemia?

A
  1. Megaloblastic macrocytic anaemia- nucleocytoplasmic dissociation where there is a delay in nucleus maturation but the cytoplasm continues to grow leading to unusually large, structurally abnormal, immature red cells produced by the bone marrow 
    - Caused by deficiency of B12 or folate required for the conversion of deoxyuridate to thymidylate, DNA synthesis and nuclear maturation 
  2. Non-Megaloblastic macrocytic anaemia 
    a. Systemic disease: 
    - Liver failure/cirrhosis (alcohol excess) 
    - Hypothyroidism 
    b. Haematogenous: 
    - Myelodysplasia 
    - Multiple myeloma 
    - Haemolysis/haemolytic anaemia (shift to immature red cell form - reticulocytosis) 
    - Acute blood loss -> high reticulocyte count 
    - Cytotoxic Drugs (e.g. tyrosine kinase inhibitor) 
22
Q

What are some causes of B12 def?

A
  • Reduced absorption 
  • Pernicious anaemia - autoimmune: loss of intrinsic factor (made by parietal cells) 
  • Post gastrectomy/atrophic gastritis 
  • Terminal ileal resection or disease (e.g. Crohn’s) 
  • Reduced intake (vegans) 
  • Abnormal metabolism (congenital transcobalamin II deficiency) 
  • Drugs (colchicine, metformin, methotrexate, hydroxyurea)
23
Q

What are some causes of folate deficiency?

A
  • Reduced intake (alcoholics, elderly, anorexia) 
  • Increased demand (pregnancy, lactation, malignancy, chronic inflammation) 
  • Reduced absorption 
  • Jejunal disease (e.g. coeliac disease) 
  • Drugs - antifolates 
    *Methotrexate (dihydrofolate reductase inhibitor) 
    *Trimethoprim 
    *Hydroxyurea 
    *Phenytoin (anti-convulsant) 
    *Azathioprine 
    *Zidovudine 
24
Q

What are the presenting symptoms/ signs of macrocytic anaemia?

A

Non-specific symptoms/signs of anaemia: 

  • Tiredness 
  • Lethargy 
  • Dyspnoea 
  • Pallor
  • Tachycardia 
  • Family history of autoimmune disease 
  • Previous GI surgery 
  • Symptoms of the CAUSE (e.g. weight loss, diarrhoea) 
  • breathlessness
25
Q

What signs of B12 def can be found on physical examination?

A
  • Peripheral neuropathy 
  • Ataxia 
  • Subacute combined degeneration of the spinal cord 
  • Optic atrophy 
  • Dementia 
26
Q

What investigations are used to diagnose/ monitor macrocytic anaemia?

A

Vit B12/ folate def:
1. Vitamin B12 & Folate Levels (low if deficient)
2. Homocysteine and Methylmalonic Acid Levels raised in VB12 or folate def
3. Blood Film → hypersegmented neutrophils suggests megaloblastic anaemia (ie. B12/Folate deficiency)
Haemolytic Anaemia → DAT Test (aka Coombs Test) for Auto immune haemolytic anaemia (AIHA):
1. Raised Unconjugated Bilirubin
2. Raised LDH (raised when intracellular contents is released)
3. Raised Reticulocytes
4. Low Haptoglobin
5. Blood Film:
⇒ spherocytes
- May be warm (IgG antibodies, SLE, CLL) or cold (IgM antibodies, mycoplasma, mononucleosis, lymphoma)

27
Q

How is macrocytic anaemia managed?

A
  1. Pernicious Anaemia  (autoimmune condition= less B12)
    - IM hydroxycobalamin 6 monthly for life 
  2. Folate Deficiency 
    - Oral folic acid daily 
    - If B12 deficiency is present, it must be treated before the folic acid deficiency 
28
Q

What complications may arise from macrocytic anaemia?

A
  • Pernicious anaemia –> increased risk of gastric cancer 
  • Pregnancy - folate deficiency increases the risk of neural tube defects (e.g. Spina bifida and anencephaly) 
29
Q

Describe the prognosis for macrocytic anaemia

A

Majority are treatable if there are no complications 

30
Q

Describe the epidemiology for macrocytic anaemia

A
  • More common in ELDERLY FEMALES 
  • Pernicious anaemia is the MOST COMMON cause of B12 deficiency in the West 
31
Q

What is pernicious anaemia?

A

Pernicious anaemia is a deficiency in RBCs caused by lack of vitamin B12 in the blood

In the strictest sense, it is caused by autoimmune impairment of intrinsic factor production (IF is used to absorb the vitB12)

The term is also widely used to describe B12 deficiency-related anaemia secondary to other causes as well.

32
Q

Describe the epidemiology behind pernicious anaemia

A

Pernicious anaemia is more common in individuals of Northern European, Scandinavian, and African descent, typically affecting adults aged 60 or older. It is often associated with other autoimmune conditions, such as autoimmune thyroid diseases and type 1 diabetes. The prevalence of pernicious anaemia may be underestimated due to underdiagnosis.

33
Q

What causes pernicious anaemia?

A

Pernicious anaemia is primarily autoimmune in nature, with the destruction of gastric parietal cells leading to a lack of intrinsic factor. Contributing factors may include genetics, as pernicious anaemia can run in families. Other autoimmune conditions are often comorbid with this disorder.

34
Q

What are the signs/ symtpoms of pernicious anaemia?

A

Fatigue
Pallor
Glossitis - inflammation of the tongue, leading to a smooth, beefy-red appearance.
Neurological Symptoms and subacute combined degeneration of the cord: Pernicious anaemia may cause neuropathy, affecting balance, sensation, and coordination.
Jaundice - due to haemolysis
Cognitive Impairment - memory problems, confusion, and mood changes may occur

35
Q

What investigations are used to diagnose/ monitor pernicious anaemia?

A
  1. FBC: Reveals macrocytic anaemia and may show hypersegmented neutrophils.
    - Low haemoglobin level
    - High MCV
    - High mean corpuscular
    - haemoglobin (MCH)
    - Normal mean corpuscular
    - haemoglobin concentration (MCHC)
    - Low reticulocyte count
  2. Blood smear - abnormally large and oval-shaped RBCs
  3. Vitamin B12 Assays: Measure serum vitamin B12 levels, which are typically low in pernicious anaemia.
  4. Intrinsic Factor Antibodies: These antibodies help confirm the autoimmune nature of the condition. This test is highly specific.
  5. Parietal cell Antibodies: This test is highly sensitive.
  6. Bone Marrow Aspiration and Biopsy: May show megaloblastic changes in erythropoiesis.
  7. Pernicious anaemia is associated with atrophic body gastritis – diagnostic criteria are based on histologic evidence of gastric body atrophy associated with hypochlorhydria.
36
Q

How is pernicious anaemia managed?

A

Management of patients with pernicious anaemia is lifelong replacement by quarterly treatment with hydroxycobalamin and close monitoring to ensure early diagnosis of any subsequently unmasked iron deficiency. Folate replacement is also often necessary.

37
Q

What complications may arise following pernicious anaemia?

A
  1. Patients should be advised about possible long-term gastrointestinal consequences, such as gastric cancer and carcinoid.
  2. Vitamin B12 is required for the nervous system so, in vitamin B12 deficiency, always consider:
    - Peripheral neuropathy
    - Subacute combined degeneration of the cord
    - Optic atrophy
    - Dementia
  3. Vitamin B12 deficiency can be associated with other autoimmune disorders such as hypothyroidism and vitiligo.