Aplastic Anaemia

Question 1

What is Aplastic Anaemia?

Answer 1

Diminished haematopoietic precursors in the bone marrow + deficiency of all blood cell elements (pancytopaenia)
Leads to pancytopenia (NO abnormal cells just less) + hypoplastic marrow (marrow stops making cells)

Question 2

How does Aplastic crisis differ to aplastic anaemia?

Answer 2

Crisis: only reduction in RBCs

Question 3

Describe the aetiology of aplastic anaemia

Answer 3

Most cases are AI triggered by drugs, viral infection or irradiation
Idiopathic (> 40%)
May be due to destruction or suppression of stem cells via AI mechanisms

Question 4

Describe the epidemiology of aplastic anaemia

Answer 4

Annual incidence: 2-4/1,000,000 (rare)

M > F slightly

Question 5

Describe the nature of symptoms of aplastic anaemia

Answer 5

Can be both slow-onset (months) or rapid-onset (days)

Question 6

List 3 symptoms of anaemia in aplastic anaemia

Answer 6

Tiredness
Lethargy
Dyspnoea

Question 7

List 3 symptoms of thrombocytopenia in aplastic anaemia

Answer 7

Easy bruising
Bleeding gums
Epistaxis

Question 8

Give a symptom of leukopenia in aplastic anaemia

Answer 8

Increased frequency + severity of infections

Question 9

Give a sign of anaemia in aplastic anaemia

Answer 9

Pallor

Question 10

Give 2 signs of thrombocytopenia in aplastic anaemia

Answer 10

Petechiae

Bruises

Question 11

Give 2 signs of leukaemia in aplastic anaemia

Answer 11

Multiple bacterial + fungal infections

No hepatomegaly, splenomegaly or lymphadenopathy

Question 12

Describe blood results in aplastic anaemia

Answer 12

Low Hb 
Low platelets  
Low WCC 
Normal MCV  
Low or absent reticulocytes: hypoproductive (as opposed to hyperproductive anaemias like HA)

Question 13

What investigation provides a definitive diagnosis of aplastic anaemia? What is seen?

Answer 13

Bone Marrow Trephine Biopsy

Hypocellular marrow with no abnormal cell population (such as blasts) + no fibrosis

Question 14

List 6 other investigations that may be considered in aplastic anaemia to exclude alternative diagnoses

Answer 14

Blood Film
Serum B12/ folate: normal
HIV testing
LFTs: excluding inherited syndrome/ hepatitis
Autoantibody screen
Chromosomal breakage test: Fanconi’s Anaemia

Question 15

List 5 acquired causes aplastic anaemia

Answer 15

Drugs (e.g. chloramphenicol, sulphonamides, methotrexate)
Chemicals (e.g. benzene, DDT)
Radiation
Viral infection (e.g. parvovirus B19, hepatitis, EBV)
Paroxysmal nocturnal haemoglobinuria

Question 16

List 3 inherited causes of aplastic anaemia

Answer 16

Fanconi's anaemia (X-linked) 
Dyskeratosis congenita (progressive BM failure syndrome): X-linked  
Schwachman-Diamond syndrome: autosomal recessive