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IMPERIAL YEAR 5 SPECIALTIES - PAEDS > Anaemia and B12 deficiency > Flashcards

Anaemia and B12 deficiency Flashcards

1
Q

What is Autoimmune Hemolytic Anemia (AIHA)?

A

A condition where the immune system attacks and destroys the body’s own red blood cells.

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2
Q

What are the two types of AIHA?

A

‘Warm’ and ‘cold’ AIHA, classified based on the temperature at which the antibodies best cause hemolysis.

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3
Q

What is the most common type of AIHA?

A

Warm AIHA.

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4
Q

At what temperature does haemolysis occur best in Warm AIHA?

A

At body temperature.

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5
Q

What type of antibody is typically involved in Warm AIHA?

A

IgG.

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6
Q

Where does haemolysis typically occur in Warm AIHA?

A

Extravascular sites, such as the spleen.

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7
Q

What are some general features of haemolytic anaemia?

A

Anaemia, reticulocytosis, low haptoglobin, raised lactate dehydrogenase (LDH), and indirect bilirubin.

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8
Q

What are specific diagnostic features of AIHA?

A

Positive direct antiglobulin test (Coombs’ test).

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9
Q

What type of antibody is typically involved in Cold AIHA?

A

IgM.

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10
Q

At what temperature does haemolysis occur best in Cold AIHA?

A

At 4 degrees Celsius.

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11
Q

How is hemolysis mediated in Cold AIHA?

A

By complement and is more commonly intravascular.

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12
Q

What are some symptoms associated with Cold AIHA?

A

Symptoms of Raynaud’s and acrocyanosis.

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13
Q

What are common first-line treatments for Warm AIHA?

A

Steroids, potentially combined with rituximab.

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14
Q

Why do patients with Cold AIHA respond less well to steroids?

A

Because the hemolysis is complement-mediated and primarily intravascular.

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15
Q

What is a common autoimmune disease associated with Warm AIHA?

A

Systemic lupus erythematosus.

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16
Q

What is the significance of the direct antiglobulin test in diagnosing AIHA?

A

It detects antibodies attached to red blood cells, confirming immune-mediated hemolysis.

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17
Q

What are the main categories of hereditary haemolytic anaemias?

A

Hereditary haemolytic anaemias can be subdivided into membrane, metabolism, or haemoglobin defects.

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18
Q

What are the types of membrane defects causing hereditary haemolytic anaemia?

A

Hereditary spherocytosis and elliptocytosis.

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19
Q

What is a common metabolic defect causing hereditary haemolytic anaemia?

A

G6PD deficiency.

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20
Q

What are haemoglobinopathies?

A

Disorders like sickle cell disease and thalassaemia that affect the structure or production of haemoglobin.

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21
Q

How can acquired haemolytic anaemias be classified?

A

Into immune and non-immune causes.

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22
Q

What are the immune causes of acquired haemolytic anaemia?

A

Autoimmune (warm/cold antibody type), alloimmune (transfusion reaction, haemolytic disease of the newborn), and drug-induced.

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23
Q

What is autoimmune haemolytic anaemia?

A

An autoimmune disorder where antibodies target own red blood cells, can be warm or cold type.

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24
Q

What are examples of alloimmune haemolytic anaemia?

A

Transfusion reactions and haemolytic disease of the newborn.

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25
Q

Which drugs can cause immune-mediated haemolytic anaemia?

A

Methyldopa and penicillin.

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26
Q

What characterizes non-immune causes of acquired haemolytic anaemia?

A

Characterized as Coombs-negative and includes mechanical, chemical, and infection-related causes.

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27
Q

What are examples of conditions that cause microangiopathic haemolytic anaemia (MAHA)?

A

Thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (HUS), disseminated intravascular coagulation (DIC), malignancy, and pre-eclampsia.

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28
Q

What role do prosthetic heart valves play in haemolytic anaemia?

A

Can cause mechanical destruction of red blood cells leading to haemolysis.

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29
Q

What is paroxysmal nocturnal haemoglobinuria?

A

A rare disorder where red blood cells break down at night.

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30
Q

How can infections lead to haemolytic anaemia?

A

Examples include malaria.

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31
Q

What drug-related cause is associated with non-immune haemolytic anaemia?

A

Dapsone is associated with causing non-immune haemolytic anaemia.

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32
Q

What is Zieve syndrome?

A

A rare clinical syndrome of Coombs-negative haemolysis, cholestatic jaundice, and transient hyperlipidaemia associated with heavy alcohol use.

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33
Q

How is Zieve syndrome typically resolved?

A

Typically resolves with abstinence from alcohol.

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34
Q

What happens in intravascular haemolysis?

A

Free haemoglobin is released, binds to haptoglobin, and when saturated, binds to albumin forming methaemalbumin.

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35
Q

What does haptoglobin bind to in intravascular haemolysis?

A

To free haemoglobin. Once saturated, haemoglobin binds to albumin.

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36
Q

What is methaemalbumin and how is it detected?

A

Methaemalbumin is a complex of haemoglobin and albumin formed when haptoglobin is saturated. It is detected by Schumm’s test.

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37
Q

What are the clinical manifestations of intravascular haemolysis?

A

Presence of free haemoglobin in the urine (haemoglobinuria) and haemosiderinuria.

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38
Q

What are some causes of intravascular haemolysis?

A

Mismatched blood transfusion, G6PD deficiency, red cell fragmentation (heart valves, TTP, DIC, HUS), paroxysmal nocturnal haemoglobinuria, cold autoimmune haemolytic anaemia.

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39
Q

How does G6PD deficiency typically cause haemolysis?

A

While it typically leads to intravascular haemolysis, there is also an element of extravascular haemolysis.

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40
Q

What is extravascular haemolysis?

A

Occurs when red cells are destroyed primarily in the spleen or liver rather than in the bloodstream.

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41
Q

What are some causes of extravascular haemolysis?

A

Haemoglobinopathies (sickle cell, thalassaemia), hereditary spherocytosis, haemolytic disease of the newborn, warm autoimmune haemolytic anaemia.

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42
Q

What is iron deficiency anaemia?

A

A condition characterized by a deficiency of iron, leading to a reduction in red blood cells or haemoglobin.

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43
Q

Who has the highest incidence of iron deficiency anaemia?

A

Preschool-age children.

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44
Q

What are the main causes of iron deficiency anaemia?

A

Excessive blood loss, inadequate dietary intake, poor intestinal absorption, increased iron requirements.

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45
Q

What is the most common cause of iron deficiency anaemia in pre-menopausal women?

A

Blood loss due to menorrhagia.

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46
Q

What dietary choices can lead to iron deficiency anaemia?

A

Vegans and vegetarians might develop it due to a lack of meat, although it can be offset by consuming dark green leafy vegetables.

47
Q

What condition affects intestinal absorption leading to iron deficiency?

A

Coeliac disease.

48
Q

Why do pregnant women have increased iron demands?

A

Due to the baby receiving iron from the mother and an increase in plasma volume which dilutes the blood.

49
Q

What are common symptoms of iron deficiency anaemia?

A

Fatigue, shortness of breath on exertion, palpitations, pallor, koilonychia, hair loss, atrophic glossitis, post-cricoid webs, angular stomatitis.

50
Q

Why is taking a patient history important in diagnosing iron deficiency anaemia?

A

To identify potential causes such as diet changes, medication, menstrual history, and signs of gastrointestinal issues.

51
Q

What does a Full Blood Count (FBC) show in iron deficiency anaemia?

A

Demonstrates hypochromic microcytic anaemia.

52
Q

How is serum ferritin used to assess iron deficiency?

A

It correlates with iron stores but can be elevated in inflammatory states, potentially masking iron deficiency.

53
Q

What does a high Total Iron-Binding Capacity (TIBC) indicate?

A

Reflects low iron stores.

54
Q

Why might endoscopy be recommended in cases of unexplained iron deficiency anaemia?

A

To rule out malignancy, especially in males and post-menopausal females with unexplained iron deficiency.

55
Q

What is the typical treatment for iron deficiency anaemia?

A

Identifying and managing the underlying cause, and administering oral ferrous sulfate.

56
Q

What are common side effects of oral ferrous sulfate?

A

Nausea, abdominal pain, constipation, diarrhoea.

57
Q

Why should iron supplementation continue for 3 months after correcting the deficiency?

A

To replenish iron stores.

58
Q

What are some iron-rich foods recommended for patients with iron deficiency anaemia?

A

Dark-green leafy vegetables, meat, iron-fortified bread.

59
Q

What is the typical serum iron level in Iron Deficiency Anaemia?

A

Low, typically less than 8 µmol/L.

60
Q

What is the typical serum iron level in Anaemia of Chronic Disease?

A

Low, typically less than 15 µmol/L.

61
Q

How does the Total Iron-Binding Capacity (TIBC) differ in Iron Deficiency Anaemia compared to AOCD?

A

In Iron Deficiency Anaemia, TIBC is high; in AOCD, it is low.

62
Q

What is the typical TIBC level in Iron Deficiency Anaemia?

A

High.

63
Q

What is the typical TIBC level in Anaemia of Chronic Disease?

A

Low.

64
Q

How does transferrin saturation compare between Iron Deficiency Anaemia and AOCD?

A

Both conditions have low transferrin saturation.

65
Q

What is the typical ferritin level in Iron Deficiency Anaemia?

A

Low.

66
Q

What is the typical ferritin level in Anaemia of Chronic Disease?

A

High.

67
Q

What is macrocytic anaemia?

A

A type of anaemia where red blood cells are larger than normal.

68
Q

What are the two main types of macrocytic anaemia based on bone marrow characteristics?

A

Megaloblastic and normoblastic, based on the appearance of the bone marrow.

69
Q

What are megaloblastic causes of macrocytic anaemia?

A

Vitamin B12 deficiency, folate deficiency, secondary to drugs like methotrexate.

70
Q

What vitamin deficiencies are megaloblastic causes of macrocytic anaemia?

A

Vitamin B12 and folate.

71
Q

What is a common drug that can lead to megaloblastic macrocytic anaemia?

A

Methotrexate, which affects DNA synthesis.

72
Q

What are normoblastic causes of macrocytic anaemia?

A

Alcohol, liver disease, hypothyroidism, pregnancy, reticulocytosis, myelodysplasia, cytotoxic drugs.

73
Q

How does alcohol affect red blood cells to cause macrocytic anaemia?

A

Alcohol leads to direct toxic effects on bone marrow, impairing red blood cell production and causing larger red blood cells.

74
Q

What systemic condition can lead to normoblastic macrocytic anaemia?

A

Hypothyroidism, which can affect metabolic processes and red blood cell production.

75
Q

What is myelodysplasia and how is it related to macrocytic anaemia?

A

A disorder of bone marrow characterized by the abnormal development of blood cells, often leading to larger red blood cells.

76
Q

What type of drugs are associated with normoblastic macrocytic anaemia?

A

Cytotoxic drugs used in chemotherapy that interfere with cell growth and division.

77
Q

What is microcytic anaemia?

A

A type of anaemia where red blood cells are smaller than normal.

78
Q

List some common causes of microcytic anaemia.

A

Iron-deficiency anaemia, thalassaemia, congenital sideroblastic anaemia, anaemia of chronic disease, lead poisoning.

79
Q

Why is iron-deficiency anaemia classified as microcytic?

A

Due to a lack of iron, which is necessary for hemoglobin production; lower hemoglobin in each cell leads to smaller cells.

80
Q

How does thalassaemia cause microcytic anaemia?

A

Results from a genetic defect in hemoglobin synthesis, leading to less hemoglobin and smaller red blood cells.

81
Q

What is congenital sideroblastic anaemia?

A

A genetic disorder where red blood cells cannot properly incorporate iron into hemoglobin, resulting in ineffective iron usage and smaller red blood cells.

82
Q

In what way can anaemia of chronic disease present as microcytic?

A

Although more commonly normocytic, it can appear as microcytic in certain phases or conditions.

83
Q

What role does lead poisoning play in causing microcytic anaemia?

A

Lead inhibits several enzymes of the heme synthesis pathway, leading to decreased hemoglobin synthesis and smaller red blood cells.

84
Q

What condition could a normal haemoglobin level with microcytosis indicate, aside from thalassaemia?

A

Polycythaemia rubra vera, which may cause secondary iron deficiency due to bleeding.

85
Q

Why should new onset microcytic anaemia in elderly patients be urgently investigated?

A

To exclude underlying malignancy, as cancer can be a hidden cause of anaemia in the elderly.

86
Q

What is the characteristic feature of beta-thalassaemia minor in terms of blood indices?

A

The microcytosis is often disproportionate to the mild anaemia.

87
Q

What is normocytic anaemia?

A

A type of anaemia where red blood cells are normal in size but reduced in number.

88
Q

What are common causes of normocytic anaemia?

A

Anaemia of chronic disease, chronic kidney disease, aplastic anaemia, haemolytic anaemia, acute blood loss.

89
Q

How does anaemia of chronic disease cause normocytic anaemia?

A

Often related to low-grade inflammation which affects the body’s ability to use iron effectively, without altering red blood cell size.

90
Q

What role does chronic kidney disease play in causing normocytic anaemia?

A

Due to reduced erythropoietin production, which is essential for red blood cell formation.

91
Q

What is aplastic anaemia and how does it lead to normocytic anaemia?

A

A bone marrow failure syndrome resulting in reduced production of all types of blood cells, including normally-sized red blood cells.

92
Q

Why does haemolytic anaemia often result in normocytic anaemia?

A

Due to the rapid destruction of red blood cells, the bone marrow responds by releasing new, typically normally-sized red blood cells.

93
Q

What impact does acute blood loss have on red blood cell size?

A

Initially, red blood cells remain normal in size as the bone marrow responds to replace blood volume without specific changes to cell size.

94
Q

What is pernicious anaemia?

A

An autoimmune disorder affecting the gastric mucosa that results in vitamin B12 deficiency, leading to megaloblastic anaemia and neuropathy.

95
Q

What does ‘pernicious’ mean in the context of pernicious anaemia?

A

Causing harm, especially in a gradual or subtle way. Symptoms and signs are often subtle and diagnosis is often delayed.

96
Q

What are some other causes of vitamin B12 deficiency besides pernicious anaemia?

A

Atrophic gastritis (often secondary to H. pylori infection), gastrectomy, malnutrition (e.g. alcoholism).

97
Q

What is the pathophysiology of pernicious anaemia?

A

Autoantibodies target intrinsic factor and gastric parietal cells, blocking B12 absorption and reducing acid production, respectively.

98
Q

Why is vitamin B12 important?

A

Essential for blood cell production and nerve myelination.

99
Q

What are common risk factors for pernicious anaemia?

A

More common in females, middle to old age, those with blood group A, and associated with other autoimmune disorders like thyroid disease and type 1 diabetes.

100
Q

What are typical features of anaemia seen in pernicious anaemia?

A

Lethargy, pallor, dyspnoea.

101
Q

What neurological features are associated with pernicious anaemia?

A

Peripheral neuropathy, subacute combined degeneration of the spinal cord, and neuropsychiatric features like memory loss and confusion.

102
Q

What are the key investigations used to diagnose pernicious anaemia?

A

Full blood count showing macrocytic anaemia, low vitamin B12 levels, antibodies to intrinsic factor and gastric parietal cells.

103
Q

What are the treatment options for pernicious anaemia?

A

Vitamin B12 injections intramuscularly; frequency depends on presence of neurological symptoms. Oral vitamin B12 for maintenance is emerging.

104
Q

What complication is associated with pernicious anaemia beyond haematological and neurological issues?

A

Increased risk of gastric cancer.

105
Q

What is the primary function of Vitamin B12 in the body?

A

Vitamin B12 is essential for red blood cell development and maintenance of the nervous system.

106
Q

How is Vitamin B12 absorbed in the body?

A

Vitamin B12 binds to intrinsic factor secreted by stomach parietal cells, then is absorbed in the terminal ileum; a small amount is absorbed passively without intrinsic factor.

107
Q

What is the most common cause of Vitamin B12 deficiency?

A

Pernicious anaemia.

108
Q

How can a vegan diet lead to Vitamin B12 deficiency?

A

Vegans avoid animal products, which are primary sources of Vitamin B12.

109
Q

What role does metformin play in Vitamin B12 deficiency?

A

Metformin can occasionally reduce Vitamin B12 absorption.

110
Q

What are the symptoms of Vitamin B12 deficiency?

A

Macrocytic anaemia, sore tongue and mouth, neurological and neuropsychiatric symptoms.

111
Q

How does Vitamin B12 deficiency affect the nervous system?

A

Initial symptoms usually include problems with the dorsal column, like joint position and vibration sense, followed by distal paraesthesia.

112
Q

What is the recommended management for Vitamin B12 deficiency without neurological symptoms?

A

Administer 1 mg of IM hydroxocobalamin 3 times each week for 2 weeks, then once every 3 months.

113
Q

Why should B12 deficiency be treated before folic acid deficiency?

A

Treating B12 deficiency first prevents the potential worsening of neurological symptoms that can be precipitated by folic acid treatment.

IMPERIAL YEAR 5 SPECIALTIES - PAEDS (422 decks)

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