Pancytopenia

Question 1

What is pancytopenia?

Answer 1

A deficiency of blood cells of all lineages (excluding lymphocytes)

Question 2

Does pancytopenia always indicate bone marrow failure or malignancy?

Answer 2

No

Question 3

What are the two categories of bone marrow failure causing pancytopenia?

Answer 3

Inherited syndromes (rare) and acquired causes (more common)

Question 4

What are inherited syndromes characterised by?

Answer 4

(1) Impaired haematopoiesis (process of producing new blood cell)

(2) Congenital abnormalities

(3) Cancer predisposition

Question 5

What genetic defect is seen in Fanconi’s anaemia?

Answer 5

Inability to correct inter-strand cross-links (DNA damage) due to autosomal recessive defects

Question 6

What is idiopathic aplastic anaemia caused by?

Answer 6

Autoreactive T-cells targeting haematopoiesis (autoimmune)
= makes it stop producing blood cells

Question 7

What is the hallmark of myelodysplastic syndromes (MDS)?

Answer 7

Increased apoptosis of progenitor and mature cells with a risk of progression to acute myeloid leukemia

Question 8

Name a primary acquired cause of bone marrow failure with a propensity for malignancy

Answer 8

Acute leukaemia

Question 9

What are common secondary causes of acquired bone marrow failure?

Answer 9

Drug-induced (e.g., chemotherapy, methotrexate, chloramphenicol)

B12/folate deficiency

Infiltrative diseases (e.g., lymphoma)

Viral infections (e.g., HIV)

Question 10

How can hypersplenism lead to pancytopenia?

Answer 10

By increasing splenic pooling or destruction of blood cells faster than bone marrow production

Question 11

Name three causes of hypersplenism

Answer 11

(1) Splenic congestion (e.g., portal hypertension)

(2) Systemic diseases (e.g., rheumatoid arthritis, Felty’s syndrome)

(3) Haematological diseases (e.g., splenic lymphoma)

Question 12

What triad of blood cell deficiencies defines pancytopenia?

Answer 12

Anaemia, neutropenia, and thrombocytopenia

Question 13

What bone marrow finding is seen in aplastic anaemia?

Answer 13

Hypocellular marrow

Question 14

What bone marrow finding is seen in B12/folate deficiency or hypersplenism?

Answer 14

Hypercellular marrow

Question 15

What are the common symptoms of anaemia in pancytopenia?

Answer 15

Fatigue, shortness of breath, and cardiovascular compromise

Question 16

How does neutropenia present?

Answer 16

Severe and prolonged infections, with opportunistic infections being common

Question 17

What are the symptoms of thrombocytopenia?

Answer 17

Bleeding (purpura, petechiae, ‘wet’ bleeds)

Question 18

What does pancytopenia show on a full blood count (FBC)?

Answer 18

Low Hb, WCC, and platelets

Question 19

What specialised test can confirm Fanconi’s syndrome?

Answer 19

Chromosome fragility testing

Question 20

What transfusions are given in pancytopenia?

Answer 20

Red cell and platelet transfusions

Question 21

What is the treatment for idiopathic aplastic anaemia?

Answer 21

Immunosuppression

Question 22

How is B12/folate deficiency treated?

Answer 22

Replace the deficient vitamins

Question 23

What are the diagnostic criteria for aplastic anaemia?

Answer 23

Diagnosis requires at least 2 of the following:

(1) Haemoglobin <10 g/dL (anaemia)
(2) Platelets <50 x 10^9/L (thrombocytopenia)

(3) Absolute neutrophil count <1.5 x 10^8/L (neutropenia)

Question 24

What symptoms are commonly associated with pancytopenia in aplastic anaemia?

Answer 24

Anaemia: Fatigue and pallor.
Leukopenia: Infection.
Thrombocytopenia: Easy bruising/bleeding

Question 25

What additional features may be present in patients with Fanconi’s anaemia?

Answer 25

(1) Pigmentation abnormalities (2) Hearing defects (3) Renal and genital abnormalities (4) Solid tumours (5) Short stature

Question 26

What unique features are associated with dyskeratosis congenita in aplastic anaemia?

Answer 26

Nail malformations Oral leukoplakia = White patches in the mouth that can be precancerous Reticulated skin rash = A lacy, net-like pattern of skin discoloration

Question 27

What does a Full Blood Count (FBC) typically show in aplastic anaemia?

Answer 27

Pancytopenia

Question 28

What does the bone marrow typically look like in aplastic anaemia?

Answer 28

Hypocellular, often replaced by fat

Question 29

What is the Gold Standard diagnostic test for aplastic anaemia?

Answer 29

Bone Marrow Aspiration and Biopsy

Question 30

What is the preferred treatment for severe aplastic anaemia?

Answer 30

Hematopoietic Stem Cell Transplant (HSCT)

Question 31

Parvovirus B19

Answer 31

Aplastic Anaemia

Question 32

How do aplastic anemia and myelodysplastic syndromes (MDS) differ?

Answer 32

Aplastic anaemia is marked by hypocellular bone marrow and pancytopenia without abnormal cells. MDS features hypercellular bone marrow with dysfunctional, abnormal cells and ineffective hematopoiesis, often leading to cytopenias and acute leukaemia

Question 33

MDS has the potential to transform into acute myeloid leukaemia. What would need to be the number of blast cells on the blood film for this to happen?

Answer 33

>20%

Question 34

What does cytopenia mean?

Answer 34

Red blood cells = anaemia White blood cells = Leukopenia Platelets = thrombocytopenia

Question 35

What condition is commonly associated with the presence of ring sideroblasts, and are they exclusive to this condition?

Answer 35

Myelodysplastic Syndrome (MDS) but can also be seen in other conditions such as (1) sideroblastic anaemia (2) Chronic alcoholism (3) Lead poisoning

Question 36

A 5-year-old with short stature, hyperpigmentation of the skin, recurrent infections, and pancytopenia on blood tests is suspected of having a genetic disorder. What condition do these features most likely indicate?

Answer 36

Fanconi Anemia, = short stature, hyperpigmentation, pancytopenia, and is inherited in an autosomal recessive pattern

Question 37

A 6-year-old boy presents with fatigue, pallor, and recurrent infections. On examination, he has short stature, hyperpigmentation of the palms, and a full blood count shows pancytopenia. Bone marrow biopsy reveals normal cell morphology. What is the most likely diagnosis? A) Fanconi anemia B) Idiopathic aplastic anemia C) Myelodysplastic syndrome (MDS)

Answer 37

Fanconi anemia

Question 38

What are the key differences between 1. Fanconi anaemia 2. Idiopathic aplastic anaemia 3. MDS

Answer 38

Fanconi anaemia = Congenital defects, pancytopenia, hyperpigmentation, genetic (autosomal recessive). Idiopathic aplastic anaemia = No congenital features, pancytopenia, or bone marrow failure with hypocellular marrow MDS = Older age, dysplastic changes in bone marrow, hypercellular marrow and abnormal cell morphology.

Question 39

An outbreak of slapped cheek syndrome at school suggests what?

Answer 39

An aplastic crisis is usually triggered by parvovirus B19 infection, which causes slapped cheek syndrome

Question 40

A 15-year-old boy has been diagnosed with aplastic anaemia. He comes from a family of farmers and as a young child was often found playing hide and seek in the barns used to store pesticides and other chemicals. He presented to his GP with fatigue, dyspnoea, and headaches. Subsequent blood tests showed a significant leucopenia. Aplastic anaemia is a failure of haematopoietic stem cells that give rise to progenitors of immune cells. These cells are located primarily in which area of the body?

Answer 40

Bone marrow

Question 41

'Pancytopaenia 5 years post-chemotherapy/radiotherapy' suggests what?

Answer 41

Myelodysplastic syndrome